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  • Life and Medical Sciences  (48,545)
  • Genetics
  • 1
    ISSN: 1432-198X
    Keywords: Key words Glomerulocystic kidney disease ; Oligohydramnion ; Renal failure-neonate ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants’ parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants’ siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Intensive care medicine 26 (2000), S. S057 
    ISSN: 1432-1238
    Keywords: Key words Critical illness ; Intensive care ; Severity of illness ; Scoring systems ; Genetics ; Susceptibility ; Education
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Risk of critical illness is determined both by genetic and environmental influences, particularly those relating to infectious and cardiovascular diseases. Physiologically-based scoring systems cannot measure prior risk because they do not quantify physiological reserve independently of the acute illness. Genetic profiling could be useful for risk assessment. Early detection of critical illness involves identifying physiological ’triggers' for referral; this requires the education of nursing and medical staff in their significance. Analysis of the relationship between risk factors and interventions may need complex modelling techniques. Therapeutic strategies depend on the nature of the underlying problem: the most useful are likely to be those which enhance tissue oxygen delivery and resistance to infection.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 159 (2000), S. S35 
    ISSN: 1432-1076
    Keywords: Key words Obesity ; Genetics ; Child ; Nutrient balance ; Energy balance ; Environment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The epidemic diffusion of obesity in industrialised countries has promoted research on the aetiopathogenesis of this disorder. The purpose of this review is to focus mainly on the contribution that European research has made to this field. Available evidence suggests that obesity results from multiple interactions between genes and environment. Parents obesity is the most important risk factor for childhood obesity. Twin, adoption, and family studies indicated that inheritance is able to account for 25% to 40% of inter-individual difference in adiposity. Single gene defects leading to obesity have been discovered in animals and, in some cases, confirmed in humans as congenital leptin deficiency or congenital leptin receptor deficiency. However, in most cases, genes involved in weight gain do not directly cause obesity but they increase the susceptibility to fat gain in subjects exposed to a specific environment. Both genetic and environmental factors promote a positive energy balance which cause obesity. The relative inefficiency of self-adapting energy intake to energy requirements is responsible for fat gain in predisposed individuals. The role of the environment in the development of obesity is suggested by the rapid increase of the prevalence of obesity accompanying the rapid changes in the lifestyle of the population in the second half of this century. Early experiences with food, feeding practices and family food choices affect children's nutritional habits. In particular, the parents are responsible for food availability and accessibility in the home and they affect food preferences of their children. Diet composition, in particular fat intake, influences the development of obesity. The high energy density and palatability of fatty foods as well as their less satiating properties promotes food consumption. TV viewing, an inactivity and food intake promoter, was identified as a relevant risk factor for obesity in children. Sedentarity, i.e. a low physical activity level, is accompanied by a low fat oxidation rate in muscle and a low fat oxidation rate is a risk factor of fat gain or fat re-gain after weight loss. Conclusion Further research is needed to identify new risk factors of childhood obesity, both in the genetic and environmental areas, which may help to develop more effective strategies for the prevention and treatment of obesity.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 159 (2000), S. S183 
    ISSN: 1432-1076
    Keywords: Key words Database ; Genetics ; Information services ; Internet ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Thanks to the World Wide Web, most results of research in genetics are made available in public databases. At the present time there are resources on genetic diseases, genes and their location, mutations of already cloned genes and on laboratories performing the mutation analysis. The main resources on phenotypes are On-line Mendelian Inheritance in Man (OMIM), Pedbase, GeneClinics, London Dysmorphology Database (LDDB) and Orphanet. The main resources on human genes are, in addition to OMIM, the Genome Database, Genatlas and Genecard. There are also two major sequence databases. All of them can be queried using the OMIM number of the disease. Central databases of mutations, as well as locus specific databases have been created. Their list is maintained at the Human Genome Organisation mutation database initiative website. Several initiative have been taken to integrate all these data and help the clinician to find out quickly what he/she needs. The website of the National Center for Biotechnology Information is the best example of such an effort with sections on diseases, a genome guide, and locus links. Several databases of genetic testing resources have been established. GeneTests is an on-line genetics resource that contains a directory of North American laboratories providing testing for heritable disorders. Orphanet is a similar database on French services which is in the process of becoming a European database. Conclusion Even if clinicians do not have as many services at their disposal as the molecular geneticists, various useful databases already exist and should no longer be ignored in practice.
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 159 (2000), S. S208 
    ISSN: 1432-1076
    Keywords: Key words Cardiovascular disease ; Cystathionine β-synthase ; Genetics ; Methylenetetrahydrofolate reductase ; Mild hyperhomocysteinaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over the last decade mild hyperhomocysteinaemia has widely been recognised as a new risk factor for arteriosclerosis and thrombosis. Main regulating enzymes of homocysteine (Hcy) metabolism are cystathionine β-synthase (CBS), methionine synthase and methylenetetrahydrofolate reductase (MTHFR). Early studies on patients with vascular disease described elevated Hcy concentrations after methionine loading and decreased CBS activity, resembling heterozygotes for CBS deficiency. Therefore, heterozygosity for CBS deficiency was proposed as the main cause of mild hyperhomocysteinaemia. However, more recent enzymatic and molecular genetic studies have demonstrated that heterozygosity for CBS deficiency is not or only a very minor cause of mild hyperhomocysteinaemia in vascular disease. We discovered two common genetic causes of mild hyperhomocysteinaemia, the 677C 〉 T and the 1298A 〉 C mutations in the coding region of MTHFR. The 677C 〉 T mutation causes reduced enzyme activity with thermolabile protein properties, elevated Hcy and low-normal or decreased plasma folate levels. The 1298A 〉 C mutation relates also to decreased enzyme activity, but not to thermolabile protein, and Hcy and folate levels are not influenced. However, compound heterozygosity for these two mutations, i.e. individuals with the 677CT/1298AC genotype, have elevated Hcy and decreased plasma folate levels. Gene-enviroment interactions between 677C 〉 T and folate is demonstrated in individuals with the 677TT genotype. Those with low-normal folate have elevated Hcy, whereas those with high-normal folate have normal Hcy concentrations. The elevated Hcy levels due to these mutations can be normalised by administration of folate, but whether folate reduces the risk of cardiovascular disease remains to be established. Conclusion Heterozygosity for cystathionine β-synthase deficiency is a minor cause of hyperhomocysteinaemia. The current data on mutations in the methylenetetrahydrofolate reductase gene do not tell us whether elevated plasma homocysteine plays a causal role in vascular disease. Low cellular vitamin status may be a possible cause and homocysteine may just be a marker for this situation.
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  • 6
    ISSN: 1364-6753
    Keywords: Key words Parkinson's disease ; Familial Parkinson's disease ; Synuclein ; Parkin ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT¶Parkinson's disease (PD) is a neurodegenerative disease with clinical features resulting from deficiency of dopamine in the nigrostriatal system. Most PD cases are sporadic and the primary cause of the disease is still unknown. Recently, familial PD and parkinsonism have received much attention because these forms of the disease might provide clues to the genetic risk factors involved in the pathogenesis of idiopathic PD. To date, two causative genes, α-synuclein and the parkin gene, have been identified. α-Synuclein is involved in the pathogenesis of an autosomal dominant form of PD and constitutes a major component of the Lewy body, which is a pathological hallmark of idiopathic PD. In addition, mutations in the parkin gene have been identified as the cause of autosomal recessive juvenile parkinsonism (AR-JP). AR-JP manifests itself as a highly selective degeneration of the substantia nigra and the locus coeruleus, but without Lewy body formation. In addition to these two genes, four chromosomal loci have been linked to other forms of familial PD. Furthermore, there are a number of other pedigrees of familial PD in which linkage to known genetic loci has been excluded. Molecular cloning of these disease genes and elucidation of the function of their gene products will greatly contribute to our understanding of the pathogenesis of idiopathic PD.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    The journal of headache and pain 1 (2000), S. S147 
    ISSN: 1129-2377
    Keywords: Key words Dopamine ; Migraine ; Genetics ; DRD2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Molecular genetics offers a novel approach to the understanding and management of migraine since the disorder is known to have a strong genetic component. In recent studies, polymorphisms in the genes for dopamine receptors have been evaluated. Both positive and negative association studies have been reported. In particular, these data suggest that activation of the DRD2 receptor plays a modifying role in the pathophysiology of migraine. As a result, existing data provide a molecular rationale for the documented efficacy of dopamine D2 receptor antagonists in the treatment of migraine. Therefore, at the present time, molecular genetic data provide support for the hypothesis that susceptibility to migraine may be modified, in part, by variations in dopamine DRD2 receptor function.
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    The journal of headache and pain 1 (2000), S. S157 
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Chronic tension type headache ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pathophysiological studies have dominated migraine research for several years. However, these studies are difficult to interpret because it is difficult to decide whether the observed phenomena are primary or secondary to the migraine attack. For that reason it is important that future migraine research focus on studies that concern migrain etiology. Migraine is a paroxysmal disorder. It is most likely and ion-channel disorder like familial hemiplegic migraine. The present paper focuses on genetic factors in migraine and chronic tension-type headache.
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  • 9
    ISSN: 1129-2377
    Keywords: Key words Cluster headache ; Familial occurrence ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A Danish genetic study showed increased risk of cluster headache (CH) among relatives of CH patients. We studied the families of 191 CH patients (118 males, 73 females; mean age 45.9 years) attending the Milan Headache Center. Information on 3589 relatives was collected by direct interview of the probands (n = 118) or by mailed questionnaire (n = 73). The diagnostic criteria of the IHS were used. A positive family history was found in 19% (37 of 191) of the families. A total of 32 first-degree (32 of 1036, 3.1%) and 15 second-degree (15 of 2553, 0.6%) relatives were affected. The relative risk of CH was 26.89 (95% CI, 17.57–36.21) in the first-degree relatives and 4.35 (95% CI, 2.13–5.21) in second-degree relatives. This study shows increased familial risk of cluster headache in an Italian population and confirms that cluster headache is, in some families, and inherited disorder.
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    The journal of headache and pain 1 (2000), S. S135 
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Headache ; Genetics ; Serotonin ; Dopamine ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Migraine carries a significant hereditary determination. Familial hemiplegic migraine (FHM) has been recently linked to mutations in the CACNA1A gene on chromosome 19. CACNA1A codes for a subunit of a neural calcium channel. Other linkage loci on chromosome 1q21-23 and 1q31 have been reported. Several linkage and association studies have been performed to determine the role of the CACNA1A gene, and of other candidate genes implicated in the metabolism of serotonin and dopamine, in the more common types of migraine. Co-morbidity of migraine with vascular events has been analysed versus genetic prothrombotic factors and mitochondrial DNA, and genes involved in the inflammatory cascade have been explored. Though no definite conclusions have emerged from these studies as yet, molecular genetics of migraine can be expected to unravel the complex aetiologies of these fascinating diseases.
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  • 11
    Electronic Resource
    Electronic Resource
    Springer
    The journal of headache and pain 1 (2000), S. S153 
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Genetics ; Dopamine ; Hypersensitivity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Migraine is a common chronic disorder with an etiology still mostly unknown. Several neurotransmitters such as dopamine and serotonin are considered to be involved in the pathogenesis of the disease and the study of their systems is crucial in the understanding of migraine. Dopaminergic receptors are variously represented in human CNS and periphery. The hypothesis that a hypersensitivity of the dopaminergic system may have a role in migraine is based on clinical and genetic data. Genetic data are represented by association studies using dopaminergic genes as candidate genes which show that the D2 receptor gene appears to be involved in the pathogenesis of migraine.
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    The journal of headache and pain 1 (2000), S. S141 
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Genetics ; Human leukocyte antigens ; Heredity ; Susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Human leukocyte Antigens (HLA) are encoded by genes located on chromosome 6p21. Genes important in migraine are being recognized in two basic ways: association studies and linkage analysis. One of the strongest associations is with the HLA region. Actually, genome scan studies suggest that multiple genes are involved in both migraine without aura (MWoA) and migraine with aura (MWA). However, both MWoA and MWA are disorders in which multiple factors, including environmental and genetic factors, confer disease susceptibility. Linkage analysis is identifying new candidate genes that will help to explain the etiology of migraine. In this review previous studies regarding genetic susceptibility to migraine are analyzed, particularly those related to the HLA region. I discuss evidence that HLA shared-hyplotypes in MWoA-affected pairs in different than that expected, that HLA-DR2 antigen provides additional basis for the proposed genetic heterogeneity between MWoA and MWA, and lastly that TNFB gene studies seem to play an important role in the susceptibility to MWoA. In the past years, major advances hae been made in understanding the genetic foundation of MWoA and MWA. Our reported genome-scan studies support the concept that MWoA/MWA are coinherited with a particular HLA region. However, the examination of candidate genes (Ca2+ channel, vascular, CNS, etc.) in a large migraine population seems to be the correct direction in which we have to move. More MWoA/MWa gene studies are needed to test this developing hypothesis and to further establish the complete genetic scenario of migraine.
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  • 13
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 100 (2000), S. 401-408 
    ISSN: 1432-2242
    Keywords: Key words Complementary genes ; Extreme virus resistance ; Genetics ; Necrotic tubers ; Restricted virus distribution ; Solanum tuberosum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The potato cultivar ’Shepody’ is susceptible to a number of potato viruses including potato virus Y (PVY, potyvirus) but was found to possess extreme resistance to another potyvirus, potato virus A (PVA). ’Shepody’ plants were resistant to PVA infection in manual and graft inoculations. PVA replication was not detected in any of the inoculated plants by ELISA, an infectivity assay and RT-PCR. However, ’Shepody’ plants grafted with shoots containing PVA developed a novel symptomology which resembled a virus infection in appearance and in rate of translocation to the entire plant. Efforts to transmit the symptom-inducing agent manually failed. Graft-inoculation to potato virus indicator plants and PVA-susceptible potato plants showed that the symptom inducer was PVA at an extremely low concentration, detected using RT-PCR followed by Southern blot assay. Tubers from grafted but resistant ’Shepody’ plants had necrotic surfaces and internal spots. PVA was detected from necrotic areas but not from the non-necrotic ones. However, plants resulting from necrotic tubers were free from aerial leaf symptoms observed in grafted plants and produced non-necrotic normal tubers. A trace-back of the parental lineage of ’Shepody’ indicated that the resistance had been introgressed from the cultivar ’Bake King’. Analysis of progeny of a cross of resistant ’Shepody’ to the susceptible ’Goldrus’ indicated that this resistance is controlled by two independent dominant complementary genes in contrast to monogenic resistance reported for other potato viruses.
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  • 14
    ISSN: 1432-2242
    Keywords: Key words Avicennia marina ; Microsatellite ; Mangrove ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  An enriched microsatellite library of the mangrove species Avicennia marina was constructed, in which 85.8% of the clones contained microsatellite sequences. Of the microsatellite repeat sequences isolated, 55.0% were di-nucleotides, 34.2% were tri-nucleotides, 50.0% were perfect, 24.2% were imperfect, and 15.0% were compound. Four different di-nucleotide repeats were isolated with repeat lengths ranging from 5 to 33; ten different tri-nucleotide repeats were isolated with repeat lengths ranging from 3 to 25. The most common di-nucleotide was the AC/TG repeat; the most common tri-nucleotide was the CCG/GGC repeat. Sixteen microsatellite sequences were selected for primer design, and 6 primers were selected to investigate the polymorphism detected among 15 individuals of A. marina from three natural populations in Australia. A total of 40 alleles were detected at 6 microsatellite loci. The number of alleles per microsatellite locus ranged from 5 to 13. On average, 7 alleles were detected per locus. All microsatellite loci showed high levels of gene diversity (heterozygosity), with values ranging from 0.53 to 0.88; the mean value of gene diversity was 0.70. Microsatellite loci were also tested for conservation across Avicennia species. There was a decline in amplification success with increasing divergence between Avicennia species. The results indicate that microsatellites are abundant in the Avicennia genome and can be valuable genetic markers for assessing the effects of deforestation and forest fragmentation in mangrove communities, which is an important issue for mangrove conservation and afforestation schemes.
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 101 (2000), S. 234-240 
    ISSN: 1432-2242
    Keywords: Key words Cherry ; Genetics ; Compatibility ; Incompatibility ; Isoelectric focusing ; Prunus avium ; Ribonuclease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The (in)compatibility genotypes of two self-compatible sweet cherry selections, JI 2420 and JI 2434, originating from the John Innes Institute were re-examined. The selections and seedlings derived from them were analysed for stylar ribonucleases, which are known to correlate with S alleles, and the outcome of test crosses was recorded. JI 2420, which had been reported previously as S 3 S 4 ", where " indicates loss of pollen activity, was deduced to have the genotype S 4 S 4 ’. For JI 2434, which had been reported previously as S 3 S 4 0 , S 3 S 3 0 or S 3 S 3 ", where 0 indicates loss of pollen and stylar activity, two different clones were identified. One, at East Malling, was deduced to be S 3 "S 4 ; the other, at Ahrensburg, appeared to be S 3 S 3 " or S 3 S 3 0 .
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  • 16
    ISSN: 1432-1211
    Keywords: Key words Skin ; Genetics ; TNFA ; ¶Inflammation ; PCR-RFLP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  Mechanisms underlying susceptibility to skin irritants are not clearly understood. Cytokines play a key role in inflammation, and functional polymorphisms in cytokine genes may affect responses to irritants. We investigated the relationship between polymorphism in the tumor necrosis factor (TNF) α-chain gene and responses to irritants. Volunteers (n=221) tested with sodium dodecyl sulfate (SDS) and benzalkonium chloride (BKC) were divided into responders and nonresponders and high and low irritant-threshold groups. DNA was assayed for the TNF-308 polymorphism by a polymerase chain reaction-restriction fragment length polymorphism method. There was a significant increase in the A allele (P=0.030) and AA genotype (P=0.023) in both the SDS low irritant-threshold group and in SDS responders (A allele P=0.022, AA genotype P=0.048). In the BKC low irritant-threshold group, we found a significant increase in the A allele (P=0.002) and AA genotype (P=0.016). Individuals with a low threshold to both irritants demonstrated a significant increase (P=0.002) in the A allele. This is the first description of a nonatopic genetic marker for irritant susceptibility in normal individuals. Genotyping for theTNF-308 polymorphism may thus contribute to screening of individuals deemed at risk of developing irritant contact dermatitis.
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  • 17
    ISSN: 1432-1459
    Keywords: Key words Progressive ¶supranuclear palsy ; Genetics ; Clinical characteristics ; Parkinsonism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Genetic studies have detected an association between the presence of the τ gene A0 allele and patients with progressive supranuclear palsy (PSP). This study examined whether patients with this polymorphism exhibit distinct demographic or clinical characteristics. We studied 26 patients who fulfilled clinical criteria for the diagnosis of PSP, 20 who had the A0/A0 genotype and 6 who had other genotypes. A questionnaire on demographic data, past medical history, familial history, and initial symptoms was completed as part of the consultation. A complete neurological examination was performed and PSP symptoms were quantified following Golbe’s PSP disability scale. We found a significant difference in the age at onset of PSP symptoms, which was 65.9 ± 5.3 years in the A0/A0 group and 71.2 ± 5.6 in the non-A0/A0 group (P = 0.016). There were no significant differences in the years from disease onset between the two groups. Symptom severity did not differ significantly in patients with the different A0/A0 genotypes. The detection of significantly lower age at onset with the A0/A0 alleles is consistent with the known association of this genotype as a risk factor for PSP. No significant differences were detected in symptom severity between the two groups of patients.
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  • 18
    ISSN: 1432-1459
    Keywords: Key words Amyotrophic lateral sclerosis ; Genetics ; Presenilin-1 intron 8 polymorphism ; Apoptosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n=72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P 〈 0.04) and allele (P 〈 0.03) distribution between patients and controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.
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  • 19
    ISSN: 1432-1459
    Keywords: Key words Parkinson’s disease ; Monoamine oxidase B ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Monoamine oxidase B (MAOB) metabolises dopamine and activates neurotoxins known to induce parkinsonism in humans and primates. Therefore the MAOB gene (MAOB; Xp15.21–4) is a candidate gene for Parkinson’s disease (PD). Longer length dinucleotide repeat sequences in a highly polymorphic GT repeat region of intron 2 of this gene showed an association with PD in an Australian cohort. We repeated this allele-association study in a population of 176 Chinese PD patients ¶(90 men, 86 women) and 203 age-matched controls (99 men, 104 women). Genomic DNA was extracted from venous blood and the polymerase chain reaction was used to amplify the appropriate regions of the MAOB gene. The length of each (GT) repeat sequence was determined by 5% polyacrylamide denaturing gel electrophoresis. There was no significant difference in allele frequencies of the (GT) repeat allelic variation between patients and controls (χ2 = 2.48; df = 5, P 〈 0.75). Therefore the longer length GT repeat alleles are not associated with PD in this Chinese population. Possible reasons for the discrepancy between Chinese and Australian populations include a different interaction between this genetic factor and environmental factors in the two populations and the possibility that the long length GT repeat alleles may represent a marker mutation, genetically linked to another susceptibility allele in whites but not in Chinese. Methodological differences in the ascertainment of cases and controls in this cohort could also explain the observed differences. Further study is required to determine whether the longer length GT repeat alleles are true susceptibility alleles in PD.
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  • 20
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Genetics ; ICAM-1 gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An increased amount of the intercellular adhesion molecule (ICAM) 1 molecule has been found in the blood of actively relapsing multiple sclerosis (MS) patients, but is unclear whether this enhanced expression is partially causative of the MS process, or whether it is merely an epiphenomenon of the inflammatory-immunological reaction. Using the transmission disequilibrium test (TDT), we studied exon 4 and exon 6 polymorphism of the ICAM-1 gene from 157 families with both parents, one affected and one healthy sib coming from Sardinia, an Italian island having a high incidence and prevalence of MS. TDT did not show variation in the expected 50:50 frequency in transmission in either healthy or affected sibs, using phenotypic or genotypic analysis. Moreover, independence from the predisposing HLA-DRB1-DQA1-DQB1 haplotype was confirmed by TDT analysis performed on the patients stratified according to the presence or absence of the HLA-DRB1, DQA1, DQB1 Sardinian predisposing haplotypes. Our data suggest that the increased expression of the ICAM-1 molecule observed in both blood and periplaque microvessels may be considered a consequence of the inflammatory process rather than the result of a genetic variation.
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  • 21
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    Springer
    Journal of neurology 247 (2000), S. 81-87 
    ISSN: 1432-1459
    Keywords: Key words Dementia ; Vascular ¶dementia ; Alzheimer’s disease ; Risk factors, stroke ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This review describes differing profiles of vascular risk factors in different types of dementia. Although vascular risk factors are related to various types of strokes, their independent effect on the occurrence of poststroke dementia appears to be small. Various risk factors have been identified for microangiopathy-related cerebral abnormalities, such as white matter changes and lacunae, which are the core lesions for the development of a vascular dementia syndrome without stroke symptoms. Most consistently, arterial hypertension and diabetes mellitus have been found to be associated with such brain abnormalities. Diastolic blood pressure seems to be of particular importance as recent investigations demonstrate that this factor is related to the course of multiple lacunar strokes and the progression of white matter disease. Epidemiological studies report that various vascular risk factors including arterial hypertension, diabetes mellitus, and atrial fibrillation may also be associated with Alzheimer’s disease. There is also evidence of a direct relationship between Alzheimer’s disease and general atherosclerosis. Further investigations are needed to determine whether these associations are due to the weakness of diagnostic criteria, or whether vascular risk factors indeed modulate the clinical expression of primary degenerative dementia. Common susceptibility genes leading to shared risk factors may be one of the reasons for a higher coincidence of Alzheimer’s disease and vascular dementia than can be expected by chance. A modulatory effect of vascular risk factors in the development of primary degenerative dementia may extend treatment options.
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  • 22
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Siblings ; Genetics ; Oligoclonal bands ; Measles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We found that 19% (9/47) of healthy siblings of patients with clinically definite multiple sclerosis had an intrathecal immunological reaction with two or more 2 CSF-enriched oligoclonal bands (OCBs), in contrast to (4%) (2/50) unrelated healthy controls. Furthermore, in this group of nine healthy sibs the measles CSF IgG antibody titers were higher than that of the other sibs and that of controls. There were also differences in the serum titers for measles IgG antibody, which were higher in the group of all healthy sibs than in healthy volunteers, and (as with CSF titers) higher in the subgroup of healthy sibs with two or more 2 CSF-enriched OCBs than the other sibs. Thus a significant proportion of healthy siblings to MS patients have a partially hyperimmune condition similar to that occurring in MS, which in 19% manifested itself as an OCB reaction, in 9% as increased CSF measles IgG antibody titers, and in 21% as increased serum measles IgG antibody titers, these phenomena tending to occur in the same individuals. This condition is characterized by CSF-enriched OCBs with undefined specificity, although some increased antiviral reactivity is found both in the serum and CSF. While it needs further characterization, a genetic trait interacting with common infections is suggested. The recurrence risk of this condition is approximately five times higher than the 3–4% recurrence risk for manifest MS reported for sibs.
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  • 23
    ISSN: 1433-8491
    Keywords: Key words Dopamine receptor D4 ; Genetics ; Personality inventory ; Polymorphism ; Excitement-Seeking
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An association between long alleles of a variable number tandem repeat (VNTR) polymorphism in the dopamine receptor D4 gene and the extraversion related personality traits Excitement and Novelty Seeking has been reported in healthy subjects. In an attempt to replicate the previous findings, 256 healthy Caucasian volunteers were analysed for a potential relationship between the dopamine receptor D4 exon III VNTR polymorphism and Extraversion as assessed by the Revised Neo Personality Inventory (NEO PI-R). The present study did not yield evidence for an association between Extraversion and the dopamine receptor D4 polymorphism.
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  • 24
    ISSN: 1433-8491
    Keywords: Key words Pharmacogenetics ; Genetics ; Risk factor ; Choreoathetotic movements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the search for genetic factors contributing to tardive dyskinesia, dopamine receptor genes are considered major candidates. The dopamine D3 receptor is of primary interest as dopamine D3 receptor knock-out mice show locomotor hyperactivation resembling extrapyramidal side-effects of neuroleptic treatment. Furthermore, Steen and colleagues (1997) recently reported an association between tardive dyskinesia and a dopamine D3 receptor gene variant. In the present study we tried to replicate this finding. We investigated 157 patients with schizophrenia or schizoaffective disorder receiving long-term neuroleptic medication who never or persistently displayed tardive dyskinesia. As advanced age is a main risk factor for tardive dyskinesia, we also compared older patients with a long duration of schizophrenia not displaying tardive dyskinesia to younger patients with a shorter duration of the illness displaying tardive dyskinesia. However, we found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia.
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  • 25
    ISSN: 1590-3478
    Keywords: Key words Nervous system ; Cavernous angiomas ; Genetics ; Onset symptoms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a clinical and genetic study of patients affected by cavernous angiomas (CA) of the nervous system. We examined initial signs and symptoms in sporadic and familial cases. We obtained clinical, neuroimaging and genetic data on 15 Italian patients with CA of the nervous system with positive, doubtful or apparently negative family history. Genetic markers surrounding three different gene regions (7q, 3q and 7p) were analysed. In one small family, genetic linkage was consistent with all chromosome loci. In another family with the unusual association of cerebral and spinal CA, linkage with chromosome 7q and, likely, 7p was excluded, while linkage with locus 3q was possible. Our results indicate that Italian families with CA may show genetic heterogeneity. Non-specific and subtle onset symptoms hide the presence of CA within families. Patients with multiple CA may have silent cerebral lesions confirming the low penetrance of clinical signs in spite of radiological ones.
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  • 26
    ISSN: 1590-3478
    Keywords: Key words Evoked potentials ; Ceroid lipofuscinoses ; Mutation ; Classification ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The importance of visual evoked potential (VEPs) and electroencephalography for diagnosing and distinghishing the infantile (INCL), late-infantile (LINCL) and juvenile (JNCL) forms of neuronal ceroid lipofuscinoses (NCL) is well established. Variant forms with protracted clinical courses and atypical symptoms have been described recently, whose neurophysiological characteristics sometimes overlap those of LINCL and JNCL. It is unclear whether these variant forms are due to phenotypic variability of known genetic defects, or represent new mutations. Twenty-eight NCL patients have been diagnosed at our institute; a proportion of them were investigated genetically. In 17 we performed neurophysiological investigations including VEPs, brainstem auditory (BAEP) and upper limb somatosensory (SEP) evoked potentials. We found typical and diagnostic electrophysiological involvement of the visual system in 8 patients with classic forms of NCL. Furthermore, the distinctive features of the multimodal evoked potentials in most of the six patients with variant NCL suggest that these are distinct genetic entities.
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  • 27
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    Neurological sciences 21 (2000), S. 373-377 
    ISSN: 1590-3478
    Keywords: Key words Myoclonus-dystonia ; Essential myoclonus ; Dystonia ; Alcohol ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present the clinical profile of a group of patients with myoclonus and dystonia sensitive to alcohol and address these cases in the context of essential myoclonus. Six patients from 4 families were selected: 4 men and 2 women with myoclonus affecting predominantly the arms. Active movements of these segments elicited the dystonic and myoclonic movements. A marked improvement with alcohol intake was seen. Laboratory findings including EEG, SSEP, and cranial CT and MRI were normal. Surface EMG recording showed bursts with duration of 30–112 ms in 3 patients. One patient showed a triphasic recording pattern (agonist-antagonist-agonist) of ballistic type. Our findings suggest that the myoclonus-dystonia disorder is present in Brazilian patients.
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  • 28
    ISSN: 1437-2320
    Keywords: Key words Von Hippel-Lindau disease ; Hemangioblastoma ; Endolymphatic sac tumor ; Angiogenesis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome caused by germline mutations of the VHL tumor suppressor gene. Major progress has been made in the last decade in both clinical and fundamental aspects of VHL. The VHL gene product, pVHL, has major and multiple functions: pVHL regulates not only first angiogenesis but also extracellular matrix formation and the cell cycle. A molecular diagnosis of VHL is now available, leading to a transformation in clinical management of patients and their families. Diagnosis of VHL has to be suspected in patients with a VHL-related tumor without familial history and especially in case of hemangioblastoma or endolymphatic sac tumors. Such patients should be systematically investigated for clinical and molecular evidence of VHL disease. Treatment of symptomatic hemangioblastomas remains mainly neurosurgical, often in emergency, but stereotactic radiosurgery is emerging as an alternative therapeutic procedure. In the future, antiangiogenic drugs could represent a potential medical treatment of CNS hemangioblastomas in view of their highly vascular structure. Lastly, visceral manifestations of VHL disease are also of critical importance and require early detection for effective treatment.
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  • 29
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    Child's nervous system 16 (2000), S. 809-820 
    ISSN: 1433-0350
    Keywords: Keywords Pediatric neurosurgery ; Molecular biology ; Genetics ; Novel therapeutics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The new millennium beckons for novel advances in the diagnosis and treatment of pediatric neurosurgical conditions. Almost every aspect of pediatric neurosurgery has changed over the last decade. Undoubtedly with the application of knowledge in molecular biology to human disease many aspects of neurosurgery, especially neuro-oncology and the field of neuro-developmental anomalies, will change appreciably over the next decade. Overall, the trend in surgery in general and neurosurgery in particular is toward less invasive procedures and possibly non-surgical interventions. This review will briefly cover many of the important areas of pediatric neurosurgery. We will describe the state-of-the-art of our subspecialty and discuss possible future directions.
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  • 30
    ISSN: 1432-5233
    Keywords: Key words Mitochondrial DNA ; Genetics ; Maternally inherited diabetes mellitus ; Deafness ; np 3243 mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). A family from Southern Italy who showed maternal transmission of type 2 diabetes mellitus with three individuals affected is described. A 10.4 kb deletion and mutations at nucleotide positions (np) 3243, 7445 and 11778 in the mtDNA of six relatives were sought. The mitochondrial np 3243 mutation of the tRNA Leu (UUR) gene was identified in a boy affected by optic atrophy and mental retardation, as well as in his diabetic mother. No other mutations or deletions were found. Our study points out the variable phenotypic expression of the np 3243 mtDNA mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype. A clinical and metabolic follow-up of all family members was necessary to understand the role of the np 3243 mutation, especially in one child affected by optic atrophy and mental retardation. Further studies will be aimed at investigating the prevalence of mutations and deletions of mtDNA in type 2 diabetes mellitus.
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  • 31
    ISSN: 1432-2242
    Keywords: Key words Simple sequence repeat (SSR) ; Microsatellites ; Molecular markers ; Genetics ; Fingerprinting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  We report the sequences of 17 primer pairs of microsatellite loci, which we have cloned and sequenced from two genomic libraries of peach [Prunus persica (L) Batsch] ‘Redhaven’, enriched for AC/GT and AG/CT repeats respectively. For ten of these microsatellite loci we were able to demonstrate Mendelian inheritance in a segregating back-cross population; the remainder did not segregate. The polymorphism of the microsatellites was evaluated in a panel of ten peach genotypes, including true-to-type peaches, nectarines and one canning-peach. Fifteen microsatellites (88%) were polymorphic showing 2–4 alleles each. The mean heterozygosity, averaged over all loci, was 0.32 and significantly higher than that reported in the literature for isozymes and molecular markers, such as RFLPs and RAPDs. We have also assayed the cross-species transportability and found that ten microsatellite (59%) gave apparently correct amplification in all Prunus species surveyed, namely P. domestica (European plum), P. salicina (Japanese plum), P. armeniaca (apricot), P. dulcis (almond), P. persica var. vulgaris (peach), P. persica var. laevis (nectarine), P. avium (sweet cherry) and P. cerasus (sour cherry), with three of them also being amplified in Malus (apple). The remaining microsatellites gave less-extensive amplification. Because of their appreciable polymorphism and wide cross-species transportability, most of these new markers can be integrated into the linkage maps which are currently being constructed in peach, as well as in other stone fruit crops, such as almond, apricot, cherry and plum.
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  • 32
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Rhadomyosarkom ; Klassifizierung ; Immunhistochemie ; Genetik ; Prognose ; Key words Rhabdomyosarcoma ; Classification ; Immunohistochemistry ; Genetics ; Prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Rhabdomyosarcoma (RMS) is the most important and a very heterogeneous group of malignant soft tissue tumors of childhood and adolescence.The two major subtypes (embryonal and alveolar) share a common myogenic differentiation, but seem to be histogenetically not related. The so-called ’International Classification of Rhabdomyosarcoma’ includes, besides the two major subtypes, the botryoid and leiomyomatous subtypes of embryonal RMS which are associated with a better prognosis and are treated less aggressively according to current protocols. In addition, the solid variant of alveolar RMS is included in the alveolar group of RMS. The identification of the various subtypes is necessary and important because the treatment with the current protocols is also related to histology. Using conventional stains and immunohistochemistry, these subtypes are distinguishable. Genetic analysis can be helpful in the demonstration of t(2;13) or t(1;13) translocations in alveolar RMS. The identification of alveolar RMS with t(1;13) translocation might become important in the future, because this type of translocation seems to be related to a better prognosis as compared to tumors with a t(2;13) translocation.
    Notes: Zusammenfassung Rhabdomyosarkome stellen eine heterogene Gruppe von ganz verschiedenartigen, histogenetisch wohl nicht zusammengehörenden Tumoren dar. Nach der heute verwendeten „Internationalen Klassifikation” der Rhabdomyosarkome werden neben der Unterteilung in embryonalen und alveoläre Rhabdomyossarkome auch Subtypen des embryonalen RMS identifiziert (botryoider und leiomyomatöser Subtyp), die durch eine günstigere Prognose und durch die Notwendigkeit einer weniger aggressive Therapie gekennzeichnet sind. Durch Einsatz von verschiedenen histologischen und immunhistochemischen Färbungen ist die Identifizierung der verschiedenen Typen der RMS heute möglich und auch zwingend notwendig, da die einzelnen Entitäten nach ganz unterschiedlichen Therapieprotokollen behandelt werden. Der Nachweis typischer molekulargenetischer Veränderungen kann in der Unterscheidung insbesondere von embryonalen und alveolären RMS hilfreich sein. In der Regel ist die Abgrenzung zwischen diesen beiden Entitäten auch an konventionell gefärbten Schnittpräparaten möglich. Die Identifizierung von alveolären RMS mit einer t(1;13)-Translokation könnte in Zukunft eine große Bedeutung haben, da diese genetische Veränderung möglicherweise mit einer günstigeren Prognose assoziert sein könnte als die t(2;13)-Translokation.
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  • 33
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    International journal of colorectal disease 14 (1999), S. 2-9 
    ISSN: 1432-1262
    Keywords: Key words Inflammatory bowel disease ; Crohn's disease ; Ulcerative colitis ; Epidemiology ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Inflammatory bowel diseases (IBD) are complex disorders. While the exact etiology of these diseases remains unknown, recent progress in the epidemiology and genetics of IBD has clearly demonstrated both environmental and genetic factors to play a role in the development of the disease, and it is expected that some risk factors are common for both Crohn's disease (CD) and ulcerative colitis (UC). The environmental factor(s) are associated with the Western way of life in the second half of the twentieth century. Cigarette smoking is presently the best known environmental factor. However, the effect of tobacco is opposite in CD and UC. A familial history of IBD is the most important risk factor for developing the disease, suggesting a genetic predisposition to IBD. This hypothesis has recently been confirmed by the localization of at least two susceptibility loci on chromosomes 12 and 16. These genes seem to play a role in both CD and UC. They must now to be identified.
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  • 34
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Schizophrenie ; Genetik ; Schizophrenes Spektrum ; Kopplungsuntersuchungen ; Assoziationsuntersuchungen ; Key words Schizophrenia ; Genetics ; Schizophrenia spectrum ; Linkage studies ; Association studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Schizophrenia is a genetic complex disease as it does not follow monogenic transmission while non-familial environmental factors have a strong additional impact. A heterogenous, continuous phenotype is transmitted in families which can now be more precisely characterized. Genes coding for proteins with presumed pathophysiological relevance are apparently not playing a major causal role. However, in the last three years several (currently seven) candidate regions have been identified in a replicable manner by linkage studies. These regions are likely to host susceptibility genes for schizophrenia, but none of them has been identified up to now. Given these findings, polygenic transmission has now become very likely. The candidate regions are currently being narrowed down by various promising techniques.
    Notes: Zusammenfassung Die Schizophrenie gehört zu den genetisch komplexen Erkrankungen, die keinem monogenen Erbgang folgen und bei denen auch nichtfamiliäre Umgebungsfaktoren eine wichtige Rolle spielen. Dabei wird intrafamiliär ein heterogener, quantitativ variierender Phänotyp übertragen, der zunehmend genauer charakterisiert werden kann. Keines der bekannten Gene mit vermuteter pathophysiologischer Relevanz spielt nach den bisherigen Erkenntnissen eine substantielle Rolle. In den vergangenen drei Jahren ist es aber erstmals durch Kopplungsuntersuchungen gelungen, mehrere replizierbare Kandidatenregionen (derzeit sieben) auf dem Genom zu identifizieren, in denen vermutlich Suszeptibilitätsgene für Schizophrenie liegen. Keines dieser Gene wurde jedoch bislang identifiziert. Mit diesen Befunden ist eine polygene Übertragung der Schizophrenie sehr wahrscheinlich geworden. Verschiedene Techniken zur Eingrenzung der Kandidatenregionen werden derzeit erfolgreich angewandt.
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  • 35
    ISSN: 1432-0533
    Keywords: Key words Frontotemporal dementia ; Genetics ; Progressive supranuclear palsy ; Tauopathy ; Exon ; amplifcation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recently intronic and exonic mutations in the Tau gene have been found to be associated with familial neurodegenerative syndromes characterized not only by a predominantly frontotemporal dementia but also by the presence of neurological signs consistent with the dysfunction of multiple subcortical neuronal circuitries. Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia. We carried out molecular genetic and neuropathological studies on two patients from a French family presenting, early in their fifth decade, a cognitive impairment and supranuclear palsy followed by an akinetic rigid syndrome and dementia. The proband died severely demented 7 years after the onset of the symptoms; currently, his brother is still alive although his disease is progressing. In both patients, we found a Tau gene mutation in exon 10 at codon 279, resulting in an asparagine to lysine substitution (N279K). Neuropathologically, widespread neuronal and glial tau accumulation in the cortex, basal ganglia, brain stem nuclei as well as in the white matter were the hallmark of the disease. These deposits were shown by immunohistochemistry and immunoelectron microscopy, using a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes present in multiple tau regions. In the neocortex, tau-immunopositive glial cells were more numerous than immunopositive neurons; the deeper cortical layers as well as the white matter adjacent to the cortex contained the largest amount of immunolabeled glial cells. In contrast, some brain stem nuclei contained more neurons with tau deposits than immunolabeled glial cells. The correlation of clinical, neuropathological and molecular genetic findings emphasize the phenotypic heterogeneitiy of diseases caused by Tau gene mutations. Furthermore, to test the effect of the N279K mutation and compare it with the effect of the P301L exon 10 mutation on alternative splicing of Tau exon 10, we used an exon amplification assay. Our results suggest that the N279K mutation affects splicing similar to the intronic mutations, allowing exon 10 to be incorporated more frequently in the Tau transcript.
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  • 36
    ISSN: 1423-0127
    Keywords: Tax ; HTLV-1 ; Trans-activation ; Phosphorylation ; Mutagenesis ; Transcription ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human T cell leukemia virus type 1 (HTLV-1) Tax is a phosphoprotein, however, the contribution of phosphorylation to Tax activity is unknown. Previous studies have shown that phosphorylation of Tax occurs on serine residue(s), within one tryptic fragment, in response to 4β-phorbol-12β-myristate-13α-acetate, in both mouse and human cells. Studies were conducted in multiple cell lines to identify the specific phosphorylated serines as a prelude to functional analysis. The phosphorylation pattern of Tax was found to be different in 293T and COS-7 cells in comparison with MT-4 and Px-1 cells. However, one tryptic fragment remained consistent in comigration analyses among all cell lines. Using selected Tax serine mutants a tryptic fragment containing a serine at residue 113 believed to be the site of phosphorylation of Tax did not comigrate with the common phosphorylated tryptic fragment. Analysis of selected Tax mutants for ability totrans-activate the cytomegalovirus promoter demonstrated mutation of serine 77 to alanine reducedtrans-activation by 90% compared to wild-type Tax. However, examination of the phosphorylation pattern of the serine 77 mutant demonstrated that it is not the site of phosphorylation. These studies demonstrate the importance of using relevant cell lines to characterize the role of phosphorylation in protein function.
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  • 37
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    Current genetics 35 (1999), S. 571-584 
    ISSN: 1432-0983
    Keywords: Key words Cytokinesis ; Kinase ; Mitosis ; Schizosaccharomyces pombe ; Cell division ; Phosphatase ; Mutant ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The fission yeast Schizosaccharomyces pombe provides a simple eukaryotic model for the study of cytokinesis. S. pombe cells are rod-shaped, grow mainly by elongation at their tips, and divide by binary fission after forming a centrally placed division septum. Analysis of mutants has begun to shed light upon how septum formation and cytokinesis are regulated both spatially and temporally. Some of the proteins involved in these events have been functionally conserved throughout eukaryotic evolution, suggesting that aspects of this control will be common to all eukaryotic cells.
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  • 38
    ISSN: 1432-1076
    Keywords: Key words Congenital heart disease ; Pulmonary atresia and ventricular septal defect ; Genetics ; Monosomy 22q11.2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The purpose of our study was to describe the prevalence and the clinical spectrum of monosomy 22q11.2 in a population of patients with pulmonary atresia and ventricular septal defect. We examined all 44 patients with this conotruncal cardiac malformation who presented to our institution from January 1994 until December 1997. The type of collateral lung perfusion was recorded including anomalies of the pulmonary arteries as well as facial and immunological abnormalities. Molecular-cytogenetic testing for a 22q11.2 microdeletion was performed using the probes D22S75 and cHKAD26. Statistical differences were evaluated with the Fisher's Exact Test. Monosomy 22q11.2 was present in ten children (23%) with major aortopulmonary collateral arteries (group 1). The remaining 13 children (29%) with major aortopulmonary collateral arteries (group 2) and all 21 children (48%) with ductus arteriosus (group 3) were negative for this microdeletion. All children in group 1 had facial anomalies, six had mild immunological abnormalities including decreased CD 4+ or CD 8+ cells. Anomalies of the pulmonary vascular bed were significantly more frequent in children of group 1 (9/10) than in children of group 2 (4/13) or group 3 (0/21). Due to these pulmonary vascular anomalies, corrective surgery had been accomplished in fewer children with monosomy 22q11.2 (none in group 1) as compared to 7/13 children in group 2 and 14/21 children in group 3. Conclusion In children with pulmonary atresia and ventricular septal defect, monosomy 22q11.2 is preferentially associated with major aortopulmonary collateral arteries. Due to the higher incidence of pulmonary arterial abnormalities, successful surgical repair will require a different therapeutic approach in most patients with this microdeletion.
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  • 39
    ISSN: 1364-6753
    Keywords: Key words Multiple sclerosis ; Genetics ; Myelin basic protein ; Myelin oligodendrocyte glycoprotein ; Proteolipid protein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. A complex genetic etiology is thought to underlie susceptibility to this disease. The present study was designed to analyze whether differences in genes that encode myelin proteins influence susceptibility to MS. We performed linkage analysis of MS to markers in chromosomal regions that include the genes encoding myelin basic protein (MBP), proteolipid protein (PLP), myelin-associated glycoprotein (MAG), oligodendrocyte myelin glycoprotein (OMGP), and myelin oligodendrocyte glycoprotein (MOG) in a well-characterized population of 65 multiplex MS families consisting of 399 total individuals, 169 affected with MS and 102 affected sibpairs. Physical mapping data permitted placement of MAG and PLP genes on the Genethon genetic map; all other genes were mapped on the Genethon genetic map by linkage analysis. For each gene, at least one marker within the gene and/or two tightly linked flanking markers were analyzed. Marker data analysis employed a combination of genetic trait model-dependent (parametric) and model-independent linkage methods. Results indicate that MAG, MBP, OMGP, and PLP genes do not have a significant genetic effect on susceptibility to MS in this population. As MOG resides within the MHC, a potential role of the MOG gene could not be excluded.
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  • 40
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    Annals of hematology 78 (1999), S. 485-494 
    ISSN: 1432-0584
    Keywords: Key words Mantle cell lymphoma ; Classification ; Pathology ; Prognosis ; Immunology ; Genetics ; Antineoplastic agents ; Combined ; Therapeutic use ; Radiotherapy ; Hematopoietic stem cell transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 41
    ISSN: 1432-0584
    Keywords: Key words Acute leukemia ; Genetics ; Sex ; ABO Blood group
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Acute leukemia is more common in males at almost every age, and this fact remains unexplained. A study was carried out in northeast peninsular Malaysia, where the population is predominantly Malay, to examine whether there was a difference in ABO blood group distribution between males and females with acute leukemia (AL). The ABO blood groups of 109 male and 79 female patients with AL (98 ALL, 90 AML) were compared with those of 1019 controls. In the control population, 39.7% were group O. Among males with AL, 39.4% were group O, whereas among females with AL, the proportion was 24.1% (p=0.03). The same trend to a lower proportion of group O among females was seen if the group was divided into adult/pediatric or lymphoblastic/myeloblastic groups, though these differences were not statistically significant. If these findings can be confirmed, they suggest the presence of a "sex-responsive" gene near to the ABO gene locus on chromosome 9, which relatively protects group O women against AL, at least in our population. The existence of such a gene might also partly explain why acute leukemia, and possibly other childhood cancers, are more common in males.
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  • 42
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    Italian journal of neurological sciences 20 (1999), S. 89-108 
    ISSN: 1126-5442
    Keywords: Key words Neurofibromatosis ; Nf1 ; Nf2 ; Mosaic/segmental neurofibromatosis ; Variants ; Classification ; Neurological manifestations ; Genetics ; Childhood ; Adulthood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2) are now well delineated clinically and have been shown to be distinct at the molecular level. For both forms of neurofibromatosis, patients with clinical generalised disease have been demonstrated to be mosaic at the molecular level, and features of segmental or mosaic Nf1 and Nf2 have been delineated. Other reported forms of neurofibromatosis are rarer; they include Watson syndrome, hereditary spinal neurofibromatosis, familial intestinal neurofibromatosis, autosomal dominant café-au-lait spots alone, autosomal dominant neurofibromas alone, and schwannomatosis, the latter believed to be a variant of Nf2. Further delineation is neeeded for individuals having overlapping features of Noonan's syndrome and neurofibromatosis (the so-called Noonan/neurofibromatosis syndrome) and the syndrome of “multiple naevi, multiple schwannomas and multiple vaginal leiomyomas”. In this article we review the forms of neurofibromatosis which we believe are true clinical entities. Particular attention is given to the neurological manifestations of neurofibromatosis.
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  • 43
    ISSN: 1432-1440
    Keywords: Key words Diabetes ; Genetics ; Phosphofructokinase ; Glycogenosis ; NIDDM ; PFK
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The etiology of non-insulin-dependent diabetes mellitus (NIDDM) is usually explained as a combination of peripheral insulin resistance and impaired beta-cell function. Phosphofructo-1-kinase (PFK1) is a rate limiting enzyme in glycolysis, and its muscle subtype (PFK1-M) deficiency leads to an autosomal recessively inherited disorder known as glycogenosis type VII or Tarui’s disease. It was evaluated whether PFK1-M deficiency leads to NIDDM in humans. A core family of four was evaluated for PFK1-M deficiency by DNA- and enzyme-activity-analyses. All members underwent oral and intravenous glucose tolerance test (oGTT/ivgtt), as well as an insulin sensitivity test (IST) using octreotide. Results: Father (46 years, BMI 22.4 kg/m2) and older son (19 years, BMI 17.8 kg/m5) showed homozygous PFK1-M deficiency, while mother (47 years, BMI 28.4 kg/m5) and younger son (13 years, BMI 16.5 kg/m5) were shown to be heterozygously PFK1-M-deficient on enzyme activity levels. DNA analysis revealed an exon 5-missense-mutation at one allele of all four members, and an exon 22-frameshift-mutation at the other allele of the two homozygously affected individuals. By oGTT the father showed impaired glucose tolerance, and the mother clinical diabetes. By ivGTT both parents and the older son had a decreased first phase insulin secretion, and a diminished glucose disappearance rate. The IST showed marked insulin resistance in both parents and the older son, and moderate resistance in the younger son, previously not described. Conclusion: PFK1-M-deficiency leads to a metabolic state typical for early NIDDM in homozygously affected humans, especially concerning insulin resistance and loss of first phase beta-cell insulin secretion, and may contribute to the manifestation of NIDDM in a subgroup of patients.
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  • 44
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    Journal of neurology 246 (1999), S. 1140-1144 
    ISSN: 1432-1459
    Keywords: Key words Amyotrophic lateral sclerosis ; Genetics ; Glutamate transporter gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder characterised by degeneration of upper and lower motor neurons. Whilst the primary pathogenic trigger is unknown in most cases, evidence is mounting to implicate a role for glutamate-mediated neurotoxicity in the disorder. Recent studies have shown reduced levels of the mainly astroglial glutamate transporter EAAT2 in ALS motor cortex and spinal cord and multiple abnormal EAAT2 mRNA species in ALS brain tissue. One cause of the low EAAT2 levels may be that point mutations in the EAAT2 gene, EAAT2, result in an abnormal unstable protein. To test this hypothesis we analysed EAAT2 in 128 sporadic and 23 familial European ALS cases. No variants within the coding sequence of EAAT2 to affect the protein sequence nor in the consensus splice sites of the flanking intronic sequences were found in any cases, similar to findings in other reports. Frequent polymorphisms within the flanking intronic sequences of both exons 2 and 4 were seen but at similar frequencies in controls. Mechanisms other than mutations within the coding region of EAAT2 must therefore be responsible for the low levels of EAAT2 seen in most cases of ALS.
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    Journal of neurology 246 (1999), S. 69-72 
    ISSN: 1432-1459
    Keywords: Key words Alzheimer’s disease ; Genetics ; Genetic counseling ; Predictive testing ; Diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Alzheimer’s disease (AD) has a significant genetic background manifested as autosomal dominant inheritance in some early-onset families and as familial risk in late-onset cases. Three genes responsible for early-onset autosomal dominant AD have been identified, and one gene, apolipoprotein E, has been confirmed as a susceptibility gene for late-onset forms of the disorder. These findings raise the possibility of genetic testing, either for early diagnosis or prediction. For early-onset autosomal dominant AD genetic testing will have a limited but useful role in confirming diagnosis in established cases and in predictive counselling for relatives; a situation analogous to that for Huntington’s disease. For late-onset AD significant problems remain to be overcome before the advances in molecular genetics have a direct clinical application
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  • 46
    ISSN: 1432-2242
    Keywords: Key words Passiflora ; Self-incompatibility ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The self-incompatibility in yellow passion fruit was previously described as homomorphic sporophytic with monofactorial inheritance. Five progenies were obtained by bud-selfing. The plants of these progenies were selfed, reciprocally crossed within each progeny and crossed with known incompatible phenotypes to identify their phenotypic group. Fruit set was evaluated at the 7th day after pollination. Two progenies consisted of two self-incompatible groups, the other three formed three suck groups. The groups were identified as S1, S2, S3, S4, S5 and S6. The results provide evidence that the self-incompatibility of passion fruit is controlled by two loci, the S-gene and another, whose expression needs to be investigated.
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    Theoretical and applied genetics 99 (1999), S. 800-810 
    ISSN: 1432-2242
    Keywords: Key words Almond ; Compatibility ; Genetics ; Prunus dulcis ; Ribonucleases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Six almond progenies, each the product of a cross between a self-compatible and a self-incompatible parent, were analysed for stylar ribonucleases. Proteins were extracted and separated using non-equilibrium pH gradient electrofocusing (NEPHGE), and the gels were stained for ribonuclease activity. Most seedlings showed either two principal bands, interpreted as corresponding to two incompatibility alleles, or a single band. The seedlings were also bagged in the field at flowering time to determine fruit set after selfing, and some were also examined for the growth of pollen-tubes in selfed styles using UV fluorescence microscopy. With very few exceptions, those seedlings showing single-banded zymograms were found to be self-compatible according to field and microscope studies, and those with two bands were found to be self-incompatible. We conclude that the allele for self-compatibility in almond does not code for ribonuclease activity and that the ribonuclease isoenzyme assay is a convenient technique for predicting self-compatibility in segregating progenies. A novel band in two derivatives of ’Ferrastar’ was ascribed to a new incompatibility allele, S 10 .
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    Child's nervous system 15 (1999), S. 676-680 
    ISSN: 1433-0350
    Keywords: Key words Craniosynostosis ; Genetics ; FGFR ; Msx2 ; Development ; Skull
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The genetic studies of syndromic craniosynostoses lead to the characterisation of genes that regulate the correct development of the bones of the skull. From these studies, it appears that FGF/FGFR signalling has a crucial role in this problem. Numerous mutations affecting the genes coding for FGFR1, 2 or 3 are responsible for these syndromes. It is interesting to note that some identical mutations produced various different phenotypes, suggesting that other genes modulate the phenotypic expressivity. The other involved genes in these syndromes code for such proteins as Msx2 or Twist that interact in the cellular pathways responsible for FGF action. From these genetic studies, it is now important to establish the role of these proteins during the development of the skull. Msx2 plays a repressive role in osteogenesis, whereas FGFRs act as promoting proteins. In the near future, it will be very important to improve our understanding of these phenomena in order to test specific treatments to prevent the development of such syndromes.
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  • 49
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    Behavioral ecology and sociobiology 46 (1999), S. 171-179 
    ISSN: 1432-0762
    Keywords: Key words Honeybee ; Apis mellifera ; Division of labor ; Genetics ; Pollen foraging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  A fundamental requirement of task regulation in social groups is that it must allow colony flexibility. We tested assumptions of three task regulation models for how honeybee colonies respond to graded changes in need for a specific task, pollen foraging. We gradually changed colony pollen stores and measured behavioral and genotypic changes in the foraging population. Colonies did not respond in a graded manner, but in six of seven cases showed a stepwise change in foraging activity as pollen storage levels moved beyond a set point. Changes in colony performance resulted from changes in recruitment of new foragers to pollen collection, rather than from changes in individual foraging effort. Where we were able to track genotypic variation, increases in pollen foraging were accompanied by a corresponding increase in the genotypic diversity of pollen foragers. Our data support previous findings that genotypic variation plays an important role in task regulation. However, the stepwise change in colony behavior suggests that colony foraging flexibility is best explained by an integrated model incorporating genotypic variation in task choice, but in which colony response is amplified by social interactions.
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    Der Nervenarzt 70 (1999), S. 195-205 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Alzheimer-Krankheit ; Genetik ; Risikofaktoren ; Genetische Beratung ; Key words Alzheimer’s disease ; Genetics ; Risk factors ; Genetic counseling
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A multifactorial etiology underlies the majority of cases of Alzheimer’s disease (AD). Both ill-defined environmental and genetic factors contribute to the development of the disease. Allele ɛ4 of ApoE is a genetic risk factor. Its presence increases the risk of developing AD. However, presence of e4 is neither necessary nor sufficient for the disease to arise. Apart from the common multifactorial forms of the disease, there are rare variants which are inherited as Mendelian traits. To date three genes are known that can be mutated in these rare forms of AD. Of these, mutations in the gene presenilin 1 on chromosome 14 are most frequent. In addition, mutations in the gene presenilin 2 on chromosome 1 and in the amyloid precursor protein gene (APP on chromosome 21) occur in autosomal dominant AD. This article reviews our present knowledge of the genetics of AD and discusses its relevance for patients with AD and their relatives.
    Notes: Zusammenfassung Der Großteil der Fälle von Alzheimer-Krankheit (AK) hat eine multifaktorielle Ätiologie. Das bedeutet, bisher nicht genauer bekannte Umwelteinflüsse und genetische Faktoren spielen bei der Entwicklung der Krankheit eine wesentliche Rolle. Von seiten der Genetik unterscheidet man bei der AK gegenwärtig genetische Risikofaktroren und Mutationen. Der einzige bisher gesicherte genetische Risikofaktor ist das Allel ɛ4 des Gens für Apolipoprotein E auf Chromosom 19. Dieses Allel erhöht die Wahrscheinlichkeit, an der AK zu erkranken, ist jedoch weder eine notwendige noch eine hinreichende Bedingung. Neben den häufigen Formen mit multifaktorieller Ätiologie kommen seltene Varianten der Krankheit vor, die nach Mendelschen Regeln vererbt werden. Bisher sind 3 Gene bekannt, die bei diesen seltenen, in der Regel früh auftretenden und autosomal dominant vererbten Formen mutiert sein können. Am häufigsten findet sich bei den autosomal-dominanten Fällen eine Mutation im Gen präsenilin 1 auf Chromosom 14, seltener liegen Mutationen im Gen präsenilin 2 auf Chromosom 1 und im Gen des Amyloid- Vorläuferproteins auf Chromosom 21 vor. In diesem Beitrag geben wir eine Übersicht über gegenwärtige Befunde zur Genetik der AK und diskutieren die Bedeutung dieses Wissens für Patienten und deren Verwandte.
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    Biologie in unserer Zeit 29 (1999), S. 60-60 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
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    Biologie in unserer Zeit 29 (1999), S. 98-109 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Seen mit Wasser, so sauer wie verdünnte Essigsäure, so sauer wie manche Kraterseen, gibt es solche Seen in Deutschland? Ja, sie gibt es, und zwar sogar recht zahlreich in den alten und vor allem in den neuen Bundesländern. Alle diese Seen sind künstlicher Natur und treten im Zusammenhang mit dem Abbau von Bodenschätzen auf. Durch diesen Vorgang werden tiefere Schichten des Deckgebirges belüftet und mit Wasser versorgt, so daß eine chemische und vor allem mikrobiologische Oxidation von reduzierten Schwefelkver bindungen (Sulfiden) einsetzen kann. Dieselben Vorgänge laufe auch auf und in den Abraumhalden ab. Sulfide sind sehr häufige Begleiter von Braun- oder Steinkohlevorkommen. Ein wesentlicher Teil der Wasserkontaminationen im mitteldeutschen und Lausitzer Raum ist in der Tat mit der Braunkohleförderung verbunden. Ferner sind die meisten, abbauwürdigen Metallvorkommen ebenfalls in sulfidischen Erzen zu finden, so daß deren Abbau zu denselben Oxidation führt, die international als Als Mine Drainage bezeichnet werden.
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    Biologie in unserer Zeit 29 (1999), S. 117-117 
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    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Additional Material: 2 Ill.
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    Biologie in unserer Zeit 29 (1999), S. 118-120 
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    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Die Vielfalt des Lebens zu beschreiben, zu verstehen und zu bewahren gehört zu den wichtigsten Herausforderungen des 21. Jahrhunderts. Dies ist mittlerweile auch auf allen Ebenen, regional, national wie international, erkannt und wird prioritär behandelt. Senckenberg ist in Deutschland eines der größten Institute, das diese Aufgabe mit neuem Schwung angeht. Die dabei entwickelte Infrastruktur steht getreu den Grundsätzen der “Blaue-Liste-Finanzierung” dem ganzen Land zur Verfügung.
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    Biologie in unserer Zeit 29 (1999), S. 110-116 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Als Fertilitätsrate bezeichnet man die Zahl der Geburten pro Frau in ihrer Lebensspanne. Wenn Zu- Oder Abwanderung in einer Population gering sind, läßt eine Fertilitätsrate von 2,0 eine konstante Bevölkerungszahl erwarten. Bei der Entwicklung der Erdbevölkerung beobachtet man in den industrialisierten Ländern derzeit keinen Anstieg. Die Fertilitätsrate liegt in den USA bei 2,1 und in Europa durchschnittlich bei 1,4. Mit 1,2 und 1,15 haben Italien und Spanien dabei die weltweit niedrigsten Fertilitätsraten. Somit ist örtlich sogar ein Bevölkerungsrücksgang zu erwarten. Auch in ostasiatischen Ländern wie China und Korea hat sich der Bevölkerungszuwachs verlangsamt. In Südasien und in afrikanischen Ländern wie China und Korea hat sich der Bevölkerungszuwachs verlangsamt. In Südlich der Sahara finden wir jedoch nach wie vor relativ hohe Gebeurtenraten. Im westafrikanischen Nigeria liegt die Fertilitätsrate bei 6,3. Für Indien und Pakistan werden Werte von 3,5 und 5,6 angegeben. Es gibt also noch viele Regionen mit einer hohen Fertilitätsrate. Manche Wissenschaftler gehen sogar davon aus, daß sich die Zahl entsprechender Staaten eher noch erhöhen wird ‘7’. Deshalb weichen auch die Schätzungen voneinander ab, bei welcher Bevölkerungszahl Wachstumsstillstand eintreten wird. Viele Demographen gehen davon aus, daß sich die Erdbevölkerung bis zum Jahr 2050 bei 10 Milliarden stabilisieren wird ‘9’. Andere schätzen, daß danach ein weiterer Ansteig auf etwa 12 Milliarden menschen zu erwarten ist ‘7’. Der Rückgang der Geburtenzahlen in den industrialisierten Ländern wurde mit kontrazeptiven Maßnahmen erzielt, die uns schon lange zur Verfügung stehen und die gut eingeführt sind. Auf den ersten Blick Sch eint es somit aus bevölkerungspolitischer Sicht auf dem Gebiet der Kontrazeption keinen zwingenden Bedarf für Neuentwicklungen zu geben. Dennoch sind Forschungsaktivitäten im Gang, die auf eine pharmakologische Kontrazeption beim Mann gerichtet sind. Im vorliegenden Artikel werden neben den traditionellen Möglichkeiten, die dem Mann zur Kontrazeption offenstehen, der wissenschaftliche Hintergrund und der Entwicklungsstand einer “Pille für den Mann” vorgestellt.
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    Biologie in unserer Zeit 29 (1999), S. V 
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    Biologie in unserer Zeit 29 (1999), S. X 
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    Biologie in unserer Zeit 29 (1999), S. XIII 
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    Biologie in unserer Zeit 29 (1999), S. 130-130 
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    Biologie in unserer Zeit 29 (1999), S. 151-157 
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    Source: Wiley InterScience Backfile Collection 1832-2000
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    Notes: Generell ist der Markt für gentechnisch veränderte Pflanzen und daraus hergestellte Produkte in den letzten Jahren gewachsen. In Deutschland zeigen sich indessen eher verhaltene Auswirkungen dieser Entwicklung ‘3’. Die wirtschaftliche Entfaltung der Gentechnik und Biotechnologie ist in Deutschland noch gering. Als ein Maß für den Entwicklungsstand der Gentechnik in der Pflanzenzüchtung ‘2’ und damit unter anderem auch deren Auswirkung auf die Futter- und Lebensmittelproduktion kann die Anzahl von Freisetzungsvorhaben mit gentechnisch veränderten Organismen (GVO) gelten. Von den rund 1300 Freisetzungsvorhaben im Bereich der EU entfallen 90 auf Deutschland. Im Vergleich zu den anderen EU-Mitgliedsstaaten rangiert Deutschland damit auf dem siebenten Platz.
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    Biologie in unserer Zeit 29 (1999), S. 247-249 
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    Source: Wiley InterScience Backfile Collection 1832-2000
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    Notes: Goethes eigenständige Untersuchungen zur Pflanzenchemie verknüspfen seine botanischen Studien mit seinen Arbeiten zur Farbenlehre. Bereits im Sommer 1796 begann er unter dem Einfluß von Alexander von Humboldt, die Wirkung des Lichts auf Pflan zen zu untersuchen. Zwanzig Jahre später protokollierte er die Experimente mit Pflanzenextrakten in seinem Notizbuch. Ergebnisse dieser Untersuchungen wurden erst als nachgelassene Schriften 1906 veröffentlicht.
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    Biologie in unserer Zeit 29 (1999), S. 255-255 
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    Biologie in unserer Zeit 29 (1999), S. 256-256 
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    Notes: No Asbstract.
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    Biologie in unserer Zeit 29 (1999) 
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    Biologie in unserer Zeit 29 (1999), S. 12-17 
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    Source: Wiley InterScience Backfile Collection 1832-2000
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    Notes: Die heutigen Wälder, die man in Europa vorfindet, waren nicht immer dort. VOr 22000 Jahren - im Hochglazial - gab es nur im Mittelmeergebiet die klimatischen Voraussetzungen für das Wachstum von Bäumen. Allerdings waren dies meist keine dichten Wälder, sondern Steppen mit einzelnen Baumgruppen. Das bedeutet jedoch, daß die heute in Europa wachasenden Bäume während der letzten 12000 Jahre - also seit dem Ende der letzten Eiszeit - nach Mittel- und Nordeuropa eingewandert sein müssen. Am Beispiel der Waldbäume Eiche (Quercus), Hainbuche (Carpinus), Fichtet (Picea) und Tanne (Abies) soll diese Einwanderung aufgezeigt werden.
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    Biologie in unserer Zeit 29 (1999), S. 55-55 
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    Biologie in unserer Zeit 29 (1999), S. 44-53 
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    Notes: Quecksilber und seine Verbindungen haben trotz ihrer Giftigkeit vielfältige medizinische und industrielle Anwendungen. Die Nutzung des Quecksilbers durch den Menschen hat jedoch erhebliche Umweltbelastungen, insbesondere quecksilberbelastete Abwässer und Böden, zur Folge, die auch mit physikalisch-chemischen Sanierungsverfahren nicht befriedigend beseitigt werden können, da die Verfahren häufig teuer oder nicht spezifisch genug sind. Mikroorganismen haben im Laufe ihrer Evolution einen Mechanismus entwickelt, um Quecksilberverbindungen zu entgiften. Er beruht auf den Aktivitäten von zwei durch das mikrobielle mer-Operon codierten Enzymen, Quecksilberreduktase und Quecksilberlyase, die in der Lage sind, Organoquecksilberverbindungen und ionuisches Quecksilber in metallisches Quecksilber zu überführen. Die mikrobielle Quecksilberreisistenz kann eingesetzt werden, um quecksilberhaltige Abwasserströme mittels eines einfachen, umweltfreundlichen Verfahrens zu reinigen.Innenansicht einer Chlor-Alkali-Elektrolyseanlage zur Gewinnung von Chlor und Natronlauge nach dem Amalgamverfahren. Bei diesem Prozeß wird auch heute noch in großem Umfang Quecksilber eingesetzt. In den Elektrolysezellen dieser Halle befinden sich insgesamt etwa 50 Tonnen Quecksilber.
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    Biologie in unserer Zeit 29 (1999), S. 58-58 
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    Biologie in unserer Zeit 29 (1999), S. 59-60 
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    Biologie in unserer Zeit 29 (1999), S. 61-61 
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    Biologie in unserer Zeit 29 (1999), S. 153-153 
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    Biologie in unserer Zeit 29 (1999), S. 90-97 
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    Notes: Die fossile Überlieferung aus den letzten präkambrischen Jahrmillionen deutet darauf hin, daß gelatinös organisierte Formenj, also quallenähnlich gebaute Organismen, die das marine Pelagial (den freien Wasserkörper des Meeres) besiedelten ‘3’. Was sie dort vorfanden war jedoch wenig labensfreundlich. Zwar wimmelte das Meer von bakterien und Protozoen, aber im wesentlichen waren die riesigen Wasserräume leer und unbesiedelt. Crustaceen und andere Organisationsformen waren - wenn die Befunde stimmen - noch in der Entwicklungsphase beziehungsweise noch nicht zu der pelagischen Lebensweise übergegangen. Wie überlebten die quallenförmigen Organismen in dieser Umwelt, und warum leben sie noch heute in allen Bereichen des Meeres, von der Flach- bis in die Tiefsee, von den Polen bis zu den Tropen? Der pelagische Lebensraum beinhaltet Tausende von Arten, die viel “höher” organisierten Gruppen angehören, die schneller und kräftiger sind. Wieso wurden die gelatinösen Plankter nicht in irgendeine skurrile Nische gedrängt oder über die Konkurrenz völlig ausgeschaltet? Mögliche Antworten auf diese Fragen finden wir in der Gegenwart.
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    Biologie in unserer Zeit 29 (1999), S. 79-89 
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    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Nach dem Grundsatz “Vermeiden geht vor Wiederverwertung oder Recycling und letzteres vor Ablagerung auf einer Deponie”, schreibt das Kreislaufwirtschafts- und Abfallgesetz 3 zwingend die Wiederverwertung von Wertstoffen vor. Schlacke aus Müllheizkraftwerken (MHKWs) wird vom Gesetzgeber als ein Wertstoff klassifiziert und unterliegt damit dem Wiederverwertungszwang. Verwendung findet die MHKW-Schlacke im Straßenbau als Ersatz für Sand und als Versatzmaterial in au fgelassenen Bergwerken. Während der letztere Verwendungszweck relativ unumstritten, wenn auch sehr teuer ist, stößt der erstere auf herbe Kritik seitens ökologisch orientierter Gruppen, insbesondere wegen des hohen Schwermetallgehalts der MHKW-Schlacke. Dieses geschieht unbeschadet der Tatsache, daß der Einsatz von Schlacke als Baumaterial starken Einschränkungen unterliegt, die insbesondere einen Kontakt der Schlacke mit Grundwasser und Niederschlägen und damit eine Elution ausschließen ‘6’. In Zukunft dürfte die Schlackeproblematik noch mehr als bisher Gegenstand umweltpolitischer Disku ssion sein, da ab dem Jahre 2005 alle herkömmlichen Hausmülldeponien für unverbrannten Restmüll de facto geschlossen werden. Dieses wird zwangsweise zu einer vermehrten Verbrennung von Restmüll und somit zu einer verstärkten Schlackeproduktion führen. Damit erhebt sich erneut die Frage nach der Wiederverwendung von Schlacke und damit nach ihrer Umweltverträglichkeit. Als sowohl ökonomisch als auch ökologisch vertretbare Alternativen stehen bislang nur neue kostengünstige Formen der Deponierung im Raum. Der folgende Artikel befaßt sich mit dem Pro und Contra der Wiederverwendung von MHKW-Schlacke aus Sicht der Pflanzenphysiologie und gibt eine Übersicht über die Streßfaktoren, denen Pflanzen bei der Kultur auf Schlacke ausgesetzt sind.
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    Biologie in unserer Zeit 29 (1999), S. 121-124 
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    Biologie in unserer Zeit 29 (1999), S. 125-125 
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    Biologie in unserer Zeit 29 (1999), S. 126-126 
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    Biologie in unserer Zeit 29 (1999), S. VIII 
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    Biologie in unserer Zeit 29 (1999), S. XI 
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    Biologie in unserer Zeit 29 (1999) 
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    Biologie in unserer Zeit 29 (1999), S. 132-141 
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    Topics: Biology
    Notes: Für einen landwirtschaftlichen Anbau in Deutschland ist die Entwicklung von traansgenen Sorten beim Winterraps zur Zeit am weitesten gediehen, weshalb das Thema Gentechnik für diese Pflanzenart besondere Aktualität besitzt. Überdies erfolgt die züchterische Sortenentwicklung bei jeder Kulturpflanze prinzipiell in denselben Schritten. Es erscheint hilfreich, sich diese an einem erfolgreichen Beisiel zu vergegenwärtigen, will man die neuen Methoden der Biotechnologie mit den bisher in der Pflanzenzüchtung gebräuchlichen vergleichen und sachgerecht bewerten.
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    Biologie in unserer Zeit 29 (1999), S. 158-166 
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    Topics: Biology
    Notes: Gentechnikspezifische rechtliche Vorgaben sind beim Herstellen von gentechnisch veränderten Pflanzen (GVP), Arbeiten mit GVP und dem Vermarkten von GVP einzuhalten. Diese reichen von der Anmeldung oder Genehmigung der gentechnischen Arbeit in einer gentechnischen Anlage, der Dokumentation der Arbeiten, bis zu den erforderlichen Genehmigungen von Freisetzungen oder des Inverkehrbringens der GVP.Die Einhaltung der gesetzlichen Vorgaben erfordert ebenso wie die praktische Überwachung geeignete Nachweisverfahren. Nach einer kurzen Darstellung der gesetzlichen Etikettierungsvorschriften für gentechnisch veränderte Organismen sollen diese Verfahren hier vorgestellt werden.
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    Biologie in unserer Zeit 29 (1999), S. 184-187 
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    Biologie in unserer Zeit 29 (1999), S. 189-191 
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    Biologie in unserer Zeit 29 (1999), S. 192-192 
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    Biologie in unserer Zeit 29 (1999), S. 177-183 
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    Notes: Vielfalt in allen Erscheinungsformen kennzeichnet schon die unbelebte und in noch stärkerem Maße die belebte Natur. Dagegen drängt die Nutzung von Naturkräften durch den Menschen, insbesondere in ihren weiter entwickelten und technisierten Formen stets auf Vereinfachung. So werden landwirtschaftliche Kulturpflanzen bei ein- bis mehrjähriger Nutzung im Regelfall in Reinkultur angebaut, ganz im Gegensatz zur standorttypischen Artenvielfalt eines natürlichen Pflanzenbestandes. Lediglich die verbliebene Unkrautflora erinnert dann and die ursprüngliche Artenvielfalt einer Pflanzengesellschaft. Es kommt hinzu, daß sich landwirtschaftlicher Pflanzenbau auf nur wenige anbauwürdige Kulturpflanzenarten konzentriert. Weltweit nimmt das Ackerland etwa 10 % der Landoberfläche der Erde ein, die mit nur etwa 30 Kulturpflanzenarten von überregionaler Bedeutung bestellt werden. Allein 37,4% davon sind dem Anbau von nur dreif für die Ernährung der Menschheit besonders bedeutsamen Arten (Weizen, Resi und Mais) gewidmet. In Deutschland werden gegenwärtig sogar 33% der Landoberfläche als Ackerland genutzt. Von den insgesamt etwa 14 bei uns häufiger anzutreffenden Kulturpflanzenarten besetzen die drei dominierenden Arten (Winterweizen, Mais und Wintergerste) dabei 48% der Anbaufläche. Landwirtschaftlicher Pflanzenbau wird also generell artenarm betrieben.Die zweite Ebene bilogischer Vielfalt im landwirtschaftlichen Pflanzenbau stützt sich auf die mehr oder weniger regelmäßige Folge verschiedener in Reinkultur angebauter Kulturpflanzenarten. Bozogen auf die Gesamtfläche eines Betriebes order die Feldflur einer Gemeinde ergibt sich dann noch immer ein abwechslungsreiches Gesamtbild verschiedener Aussaat-, Blühund Erntezeiten. Für artenreiche Fruchtfolgen lassen sich darüber hinaus viele, für die Bodenbewirtschaftung vorteilhafte Argumente anführen. Die hohe Schlagkraft der vollmechanisierten Betriebe und die beliebige Verfügbarkeit von Dünge- und Pflanzenschutzmitteln in Verbindung mit artunterschiedlichen Ertrags- und Preisrelationen haben jedoch auf intensive bewirtschafteten Betrieben in günstigen Lagen zu einer oft drastischen Reduktion der Pflanzenproduktion (auf den Anbau von nur noch drei, manchmal sogar nur zwei Arten) geführt, von denen der jeweils höchste Beitrag zur Deckung der Betriebskosten erwartet werden kann.Inzwischen hat sich jedoch die Erkenntnis durchgesetzt, daß die Aufrechterhaltung “biologischer Diversität” ein wesentliches Element zur Sicherung der “Nachhaltigkeit” der landwirtschaftlichen Pflanzenproduktion darstellt. Dies hat in der Konferenz von Rio (1992) im Rahmen der Agenda 21 zum Abschluß einer “Konvention über Biologische Vielfatl” geführt, der auch die Bundesrepublik Deutschland beigetreten ist.Mit dem Begriff biologische Vielfalt werden in dieser Konvention nicht nur Naturschutzverpflichtungen zur Sicherung des Erhalts bedrohter Tier- und Pflanzenarten übernommen, sondern es geht zu einem wesentlichen Teil auch um die 3. Ebene der biologischen Vielfalt in Form der genetischen Vielfalt innerhalb der für die Welternährung grundlegend bedeutsamen Kulturpflanzenarten. In diesem Zusammenhang soll hier gefragt werden, ob mit der Einführung transgener Nutzpflanzen neben ihrem wirtschaftlichem Nutzen auch Risiken für die biologische Vielfatl verbuden sind.
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    Biologie in unserer Zeit 29 (1999), S. 200-207 
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    Notes: Es ist schon erstaunlich: Man setzt sich eine einfache Brille auf, die als “Gläser” zwei farblose Folien enthält, und schon spielt die räumliche Sehwelt verrückt. Farbige Felder in bunt gemusterten Flächen springen in der Wahrenhmung auf uns zu, und andere weichen zurück. Betrachtet man eine Person vor dunklem Hintergrund, die einen roten Pullover and eine blause Hose anhat, so sieht man die obere Hälfte viel näher als die untere. Und noch verrückter: Ähnlich wei bei Michael Endes “Scheinriese” Tur-Tur ‘1’ nimmt der Tiefeneindruck zu, je weiter man sich von dem betrachteten Objekt entfernt. Wie kommt dieser Effekt zustande?Das Grundprinzip der ChromaDepth-Brille (C3DTM glasses), die von der Firma Chromatek in Georgia/USA hergestellt wird, ist die Farbdispersion: Rotes Licht wird durch das Gitter der brillenfolie stärker seitlich abgelenkt (gebeugt) als blaues Licht (Abbildung 1). Das dies für beide Augen gegensinnig erfolgt, ergeben sich Bildunterschiede zwischen rechtem und linkem Auge; Disparitäten, die das Sehsytem im Gehirn wie gewohnt als Raumtiefe deutet(Farbtiefeneffekt, Abbildung 2) Deshalb seiht man mit der ChromaDepth-Brille bunt gemusterte Flächen räumlich, genauer formuliert: Setzt man die Brille auf, so springen die Bilder, die wir mit unseren beiden Augen sehen, etwas aufeinander zurote Bildteile mehr, blaue weniger, Die Folge ist: Vor dunklem hintergrund erscheinen rote Flachen näher als blaue. Vor hellem Hintergrund ist es genau umge Kehrt: Rot erscheint hinter Blau. Das Ausmaß der wahrogenommenen Tiefe ist beträchtlich. So scheint der rote Fleck eines Laser-Pointers, auf eine vier Meter entfernte weiße Wand fällt, 110 Zentimeter vor dieser Wand in der Luft zu schweben. Im einzelnen kan der Sachverhalt sehr kompliziert sein. Auch wenn wir meinen, eine bestimmte Farbe zu sehen, handelt es sich in Wirklichkeit meist um ein kompliziertes Gemisch verschiedener Wellenlängen, die alle mit der ChromaDepth-Brille auseinan-dersortiert werden und ganz unerwartete Tiefenstaffelungen erzeugen können.
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    Biologie in unserer Zeit 29 (1999), S. 218-222 
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    Topics: Biology
    Notes: Scheinbar hat es Vortelie, Zwitter zu sein. Die Erstbesiedlung neuer oder gestörter lebensräume wird durch die Möglichkeit zur Selbstbefruchtung vereinfaht oder bei Abwesenheit von Sexualpartnern sogar erst möglich. Aus einem einzigen Samen einer selbstbestäubenden Pflanze kann sich bei gleichzetig hoher Reproduktionsrate, schnell eine große Population aufbauen. Viele kleine Brassicaceen (Kreuzblülter), wie etwa die Ackerschmalwand Arabidopsis thaliana, sind dafür gute Beispiele. Doch uneingeschränkte Selbstbefruchtung hat offensichtliche Nachtelie. Ungünstige Mutationen häufen sich im Genom an, und die durch Durchmischung des Erbgutes bewirkten heterosiseffekte entfalten sich nicht. Daher finden sich in etwa der Hälfte aller pflanzenfamilien Arten, bei denen Selbstbefruchtung (Autogamie) ausgeschlossen ist ‘5’. Verbreitete Mechanismen, die eine Allogamie (Frembdefruchtung) begünstigen, sind unterschiedliche Reifezeitpunkte und -orte der weiblichen und mänlichen gameten auf einer Pflanze oder die Diözie (Zweihäusigkeit), bei der weibliche und männliche Gameten auf unterschiedlichen Individuen gebildet werden. Weiterhin gibt es eine Vielzahl morphologischer Barrieren, die das zufällige Bestäuben mit dem eigenen Pollen behindern und Pflanzen häufig an Tiere als Pollenüberträger von Blüte zu Blüte binden. “Echte” selbstinkompatible pflanzen können den eigenen Pollen oder den der “näheren Verwandtschaft” erkennen und abn der Befruchtung hindern, sie sind aber nicht etwa steril, wie der früher gebrächliche Begriff Selbststerilität nahelegte, da sie fertile Gameten bilden. Erkannt wurde das Phänomen schon 1764 von Köreuter für die Königskerze Verbascum phoenichicum, doch die erste eingehende Analyse und Zusammen fassung dieser Daten und eigener Befunde erfolgte später (1867) durch Charles Darwin. Er erkannte als erster, daß die beobachtete Unfruchtbarkeit durchaus als “Begabung” angesehen werden kann.Viele landwirtschaftlich genutzte Arten sind heute selbstkompatibel, weil im Laufe ihrer Kulturgeschichte die Selbstinkompatibilitäts- Mechanismen verlorengegangen sind oder bewuß darauf verzichtet wurde. Dies hat gute Gründe: Einer davon ist vor allem eine Ertragssteigerung durch die ungehinderte (Selbst-) Befruchtung. Allerdings ist mit solchen Pflanzen die Produktion von Hybridsaatgut zur, “Handarbeit” des Züchters geworden. Im Zeitalter teurer menschilcher Arbeitskraft hat daher jede Art von Pollensterilität nicht zu unter schätzende wirtschaftliche Bedeutung gewonnen. Die (Rück-) Übertragung eines funktionierenden Selbstinkomatibilitätssystems auf kulturpflanzen erscheint hier als ein Lösungsweg, insbesondere da solche Pflanzen weiterhin fertilen Pollen produzieren könnten, also nicht steril wären. Allerdings ist man heutzutage noch zu weit von einem umfassenden Verständnis der natürlichen Selbstinkompatibilitäts Systeme entfernt, um deren übertragung auf selbstkompatible Methoden, erreichen zu Können.
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    Biologie in unserer Zeit 29 (1999), S. 250-254 
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    Biologie in unserer Zeit 29 (1999), S. 238-246 
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    Notes: Nur bei wenigen Wachstumsprozessen wird eine so groß Genauigkeit gefordert und erreicht wie bei der Abstimmung der Augenlänge auf die Brennweite von Linse und Hornhaut. Wenn das Auge um nur ein Prozent zu lang ist, besteht bereist eine Kurzsichtigkeit (Myopie) von fast einer Dioptrie (dpt). Dabei fällt die Sehschärfe in der Ferne auf etwa ein Drittel. ab. Ist das Auge daggen zu kurz (Weitsichtigkeit-Hyperopie), so kann man zwar in der Ferne meist noch gut sehen, aber die Arbeit in der Nähe wird schwierig, weil mehr Akkommodation aufgebracht werden muß. Die hat nichts mit der “Alterweitsichtigkeit” (Presbyopie) zu tun, wo zwar der Bau des Auges normal ist, aber der altersbedingte Verlust der Akkommodation scharfes Sehen in der Nähe unmöglich macht.Beim Menschen, einigen Afen und Vögeln erreicht die Abbildungsgüte im Bereich der Stelle des schärfsten Sehens (Fovea) die Grenze der physikalischen Möglichkeiten. Nicht optische Schwächen oder Ungenauigkeiten im Bau des Auges, sondern die Lichtbeugung an der Pupille, die zwangsläufig aus den Welleneigenschaften des Lichtes folgt, begrenzen weitere Auflösung. Es ist schwer vorstellbar, wie diese Genaukeit erreicht werden kann, wenn nicht eine Steuerung des Wachstums durch einen rückgekoppeltn Regelkreis erfolgt, der sein Fehlersignal aus dem Netzhautbild entnimmt. Bis vor wenigen Jahren herrschte dennoch die Meinnung vor, daß das Augenlängenwachstum weitgehend genetisch bestimmt ist. Inszwischen ist aber durch Experimente mit brillentragenden Hühnern und Affen gezigt worden, daß “normale” Seherfahrung tatsächlich Voraussetzung für genaues Wachtsum ist. Die zugrundeliegenden Mechanismen sind noch nicht vollständig aufgeklärt, ber bisherige Ergebnisse lassen Schlüsse über mögliche Ursachen von Kurzsichtigkeit zu.
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    Biologie in unserer Zeit 29 (1999), S. 268-277 
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    Biologie in unserer Zeit 29 (1999), S. 286-291 
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    Notes: Kein Schiff überquert sden Ozean ganz ohne blinde passagiere. Muscheln undAsseln bohren sich in Holzplanken. Algen und Seepocken heften sich mi Unterwasserbereich an die Schiffsrümpfe. Planktische sporen und Larven gelangen in das Ballastwasser, das jedes moderne Schiff zur Stabilisierung mit sich führt ‘1 und 3’. Je größer und schneller ein Schiff ist, desto, besser ist dies für die unbeachteten Tramper der Weltmeere. Wer solch eine lange Seereise überlebt, ist auch widerstands- und anpassungsfähig genug, um sich an neuen Küsten zurechtzufinden (Abbildung 2). Günstige Gelegenheiten zur Mitreise ergeben sich auch, wenn Austern oder andere Meerestiere für die Weiterzucht an ferne Küsten versandt werden. Solch ein Handel hat weltweit zugenommen, ebenso wie der interkontinentale Schffsverkehr. Diese Entwicklung führte dazu, daß mehr und mehr Arten zu Bewohnern weit voneinander entfernter Küsten wurden. Der mensch half die natürlichen Ausbreitungsbarrieren zu überwinden und leitete eine Globalisierung der Lebensgemeinschaften an den Küsten ein. - Welchen Umfang aber hat dies im Bereich der Nordsee angenommen? - Welche ökologischen Konsequenzen ergeben sich? - Kann und soll dieser Trend aufgehalten werden? - Diese brisanten Fragen stellen sich weltweit für die Meeresküsten und ebenso auch für die Süßwasser und das Land ‘11-13’.
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    Biologie in unserer Zeit 29 (1999), S. 292-300 
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    Notes: Zu en vielen Schutz- und Verteidigungsstrategien, die von den Organismen entwickelt wurden, um dem Gefressenwerden zu entgehen, Zählen ein sperrigerwerden der Individuen, die Bildung von Panzern, Stacheln und Dornen, das Produzieren und Speichern von schwerverdaulichen Stoffen und Giften, aber auch die Entwicklung eines komplexen verhaltensrepertoires zur Vermeidung von Freßfeinden ‘8’. Bis zur dieses Jahrhunders glaubte man, daß die der Verteidigung dienenden Maßnahmen dauerhaft seien, also im Laufe der Evolution entstanden sind und im Verlauf ddes Lebens eines Individuums zu einem bestimmten Zeitpunkt zur Ausprägung, gelangen, unabhängig von der gerad herrschenden Bedrohung. Heute wissen wir, daß neben einer solchen kionstitutiven Verteidigung in vielen Organismengruppen auch induzierbare Verteidigungsmechanismen existieren, welche nur dann wirksam werden wenn Freßfeinde im Biotop in größerer Dchte auftreten und somit eine ernstzunehmende Bedrohung darstellen. Das Spektrum induzierbarer Feindabwehrmechanismen ist der Palette der kionstitutiven Abwehrmaßnahmen dabei durchaus sehr ähnlich. Der entscheidende Unterschied ist jedoch der, daß der bedrohte Organismus erst auf ein bestimmtes Signal hin von seinem genetisch festgelegten Schutzmechanismus Gebrauch macht. Dadurch werden die Kostenfür die Feindabwehr minimiert. Neben physikalischen Signalen (wie Licht und Temperatur), welche dem Organismus indirekt Auskunft über den Grad einer aktuellen Bedrohung geben können, spielen von den Freßfeinden abgegebene chemische Signale (Kairomone) eine entscheidende Rollen als Auslöser der induzierbaren Verteidigungsmechanismen. An der Aufklärung der chemischen Natur der Kariomione wird zur Zeit intenxiv gearbeitet.
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    Biologie in unserer Zeit 29 (1999), S. 301-306 
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    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Früher wurden über 90% aller Vogelarten als monogam klassifiziert, also als in Einehen lebend ‘5’. Manhatte zwar auch schon damals vereinzelt beobachtet, daß es bei einem Teil dieser Arten manchmal zu Kopulationen mit anderen Individuen als dem Paarpartner kommen kann, maß diesem Verhalten jedoch keine größere Bedeutung bei. Man dachte vielmehr, daß es sichhierbei um eine Art krankhaftes Verhalten handele. Dises Ansicht änderte sich erst, als verschiedene Methoden von Elternschaftsnachweissen gezielt auch bei Vögeln angewenden wurden, um damit Jungtiere zu identifizieren, die aus solchen “Fremdkopulationen resultieren”. Dabei stellte sich heraus, daß die Häfigkeit dieses Verhaltens aufgrund der wenigen Beobachtungen stark unterschätzt worden war und daß bei einer beeinduruckenden Zahl von Vogelarten mit einem monogamen paarungsssytem Jungtiere zu finden sind, die nicht von dem Männchen abstammen, welches die Brut versorgt ‘1’.Die Untersuchungsergebnisse werfen eine Reihe weiterführender evolutionsbiologischer Fragen auf. So stellt sich unter ande rem die Frange nach dem Anpassungswert, halb des Paarbundes. Während der Nutzen f¨r die Männchen auf der hand zu liegen scheint, sie können durch, “Fremdkopulationen” die Anzahl ihrer Nachkommen erhöhen, ist der evlutionsbiologische Vorteil für die Weibchen nicht nämlilck durch Ko pulationen außerhalb des Paarbundes normalerweise nicht die Anzahl ihrer Nachkommen steigern. Sie erhöhen durch Kopulationen mit einem anderen Männchen allenfalls die genetische Variabilität ihree Nachkommen.Ein weiterer Fragenkomplex ergibt sich durch den Umstand, daß brutpflegende Männchen vermeiden sollten, für Jungtiere zu sorgen, die nicht von ihnen selbst stammen. Dises Erwartung basiert darauf, daß Brutpflege gewöhnlich mit Kosten (Enegie und Zeit) verbunden ist: Wenn die Männchen für Jungtiere sorgen, die nicht von ihnen selbst stammen, dann reduzieren sie auf längere Sicht ihren eingene Fortpflanzungserfolg.Im fogenden Aufastz soll versucht werden, die beiden genannten Fragenkomplexe beispielhaft an Untersuchungsergebnissen zum Paarungsverhalten von Kohleisen zu vertiefen. Dabei soll zunächst gezeigt werden, wie mit Hilfe moderner molekulargenetischer Methoden, namentlich dem DNA-Fingerprinting, das Fortpflanzungsverhalten einer Vogelart analysiert werden kann, um dann anschließend auf die eben genannten evolutionsbiologisch relevanten Aspekte einzugehen.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
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    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 29 (1999), S. 309-309 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Seit 1989 organisieren die beiden Zoologen Prof. Dr. H. K. Schminke aus Oldenburg und Prof. Dr. W. Westheide aus Osnabrück im Sommer einwöchige Intensivkurse zur Vermittlung taxonomisch-ökologischer Kenntnisse über einheimische Tiergruppen. BIUZ wollte mehr über diese Kurse und ihre Ziele wissen.
    Type of Medium: Electronic Resource
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  • 97
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    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 29 (1999), S. V 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Type of Medium: Electronic Resource
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    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 29 (1999), S. IX 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Type of Medium: Electronic Resource
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    Electronic Resource
    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 29 (1999) 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 100
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    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 29 (1999), S. 318-318 
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Type of Medium: Electronic Resource
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