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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta diabetologica 33 (1996), S. 257-262 
    ISSN: 1432-5233
    Keywords: Key words NIDDM ; Candidate genes ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Acta diabetologica 33 (1996), S. 257-262 
    ISSN: 1432-5233
    Keywords: NIDDM ; Candidate genes ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 92 (1996), S. 382-387 
    ISSN: 1432-2242
    Keywords: Genetics ; Blacking resistance ; Brassica napus ; Brassica juncea ; Leptosphaeria maculans
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The genetic control of adult-plant blackleg (Leptosphaeria maculans) resistance in a Brassica napus line (579NO48-109-DG-1589), designated “R13” possessing Brassica juncea-like resistance (JR), was elucidated by the analysis of segregation ratios in F2 and F3 populations from a cross between “R13” and the highly blackleg-susceptible B. napus cultivar “Tower”. The F2 segregration ratios were bimodal, demonstrating that blackleg resistance in “R13” was controlled by major genes. Analysis of the segregation ratios for 13 F3 families indicated that blackleg resistance in these families was controlled by three nuclear genes, which exhibited a complex interaction. Randomly sampled plants of F3 progeny all had the normal diploid somatic chromosome number for B. napus. The similarities between the action of the three genes found in this study with those controlling blackleg resistance in B. juncea is discussed.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 92 (1996), S. 817-826 
    ISSN: 1432-2242
    Keywords: Zea mays ; RFLPs ; Plant breeding ; Genetics ; Recombination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract This study was conducted to compare maize quantitative trait loci (QTL) detection for grain yield and yield components in F2∶3 and F6∶7 recombinant inbred (RI) lines from the same population. One hundred and eighty-six F6∶7 RIs from a Mo17×H99 population were grown in a replicated field experiment and analyzed at 101 loci detected by restriction fragment length polymorphisms (RFLPs). Single-factor analysis of variance was conducted for each locus-trait combination to identify QTL. For grain yield, 6 QTL were detected accounting for 22% of the phenotypic variation. A total of 63 QTL were identified for the seven grain yield components with alleles from both parents contributing to increased trait values. Several genetic regions were associated with more than one trait, indicating possible linked and/or pleiotropic effects. In a comparison with 150 F2∶3 lines from the same population, the same genetic regions and parental effects were detected across generations despite being evaluated under diverse environmental conditions. Some of the QTL detected in the F2∶3 seem to be dissected into multiple, linked QTL in the F6∶7 generation, indicating better genetic resolution for QTL detection with RIs. Also, genetic effects at QTL are smaller in the F6∶7 generation for all traits.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1920
    Keywords: Key words Myotonic dystrophy ; Magnetic resonance imaging ; Brain ; Muscles ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multisystem disorder with a wide spectrum of muscular and extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted of diffuse atrophy (68 %), subcortical white matter lesions (65 %), wide Virchow-Robin spaces (38 %) and thickening of the skull (35 %). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring muscles causing a mosaic pattern of the thigh in 38 % and the calf in 44 %. Muscular changes on MRI were strongly correlated with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Oecologia 108 (1996), S. 419-423 
    ISSN: 1432-1939
    Keywords: Barnyard grass ; Seed dormancy ; Geographic variation ; Genetics ; Ecophysiology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract In 1991–1993, we investigated the incidence of seed dormancy in 25 local populations of barnyard grass, Echinochloa crus-galli (L.) P.Beauv., in the western Czech Republic. The percentage of germination after 4 months afterripening of dry seeds at 25°C varied between 0.0 and 83.6%. Although there were significant annual differences in the percentage of germination at some localities, typical proportions of dormant seeds persisted over 3 years at field sites where the seed bank was not disturbed. One-way ANOVA (using data from 14 cultivated or abandoned fields) revealed that 73.0% of variance in seed dormancy incidence could be attributed to the effect of locality (P〈0.001). Incidence of dormancy was not correlated with mother plant stature (dry above-ground biomass, number of tillers, maximal stem height) nor seed mass. There was a significant correlation (r 2=0.403, P〈0.005) between dormancy incidence at natural localities in 1991 and in F1 offspring sown at experimental grounds at Praha-Ruzyně in 1992. The results indicate that heredity is important in maintaining local variation in seed dormancy, probably favoured by the self-pollinating reproduction of barnyard grass.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 74 (1996), S. 515-521 
    ISSN: 1432-1440
    Keywords: Key words Emotionality ; Behaviour ; Genetics ; Animal models ; QTL analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  It seems that the genetic basis of common psychiatric diseases such as schizophrenia and manic-depressive psychosis is amenable to the genetic mapping strategies that have been successful in other complex disorders such as diabetes. The next challenge is the genetic dissection of quantitative behavioural traits such as mood, personality and intelligence. Quantitative traits pose new problems for gene cloning experiments. We argue that one way forward is by using animal models. One of the features of quantitative traits is that the DNA sequence variants which are responsible for them are unlikely to be immediately recognizable. In contrast to many qualitative traits where a discrete phenotypic difference is often the consequence of an inactivating mutation, the allelic variation responsible for quantitative traits probably has a more subtle basis. This distinction means that strategies to clone the genetic basis of quantitative behavioural traits will have to rely on functional assays of alleles thought to be important in determining the phenotype. We suggest that an efficient strategy for detecting sequences that give rise to quantitative behavioural traits can be devised in the mouse. The importance and utility of the mouse for quantitative trait analysis make it worthwhile to investigate mouse models of human behaviour; these advantages outweigh the difficulties that arise in attempts to validate the animal models. As an example we review the evidence that validates rodent emotionality as an animal model for susceptibility to human anxiety. We show that there is good evidence that rodent emotionality is a central nervous system state with a genetic basis, and that there are neuropharmacological and neuroanatomical parallels with human anxiety. Furthermore, our own work has shown that the genetic basis of the trait is relatively simple, and that the task of characterizing it at a molecular level is feasible. We expect that future experiments will show us how genetic variation gives rise to quantitative behavioural traits.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 74 (1996), S. 515-521 
    ISSN: 1432-1440
    Keywords: Emotionality ; Behaviour ; Genetics ; Animal models ; QTL analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract It seems that the genetic basis of common psychiatric diseases such as schizophrenia and manic-depressive psychosis is amenable to the genetic mapping strategies that have been successful in other complex disorders such as diabetes. The next challenge is the genetic dissection of quantitative behavioural traits such as mood, personality and intelligence. Quantitative traits pose new problems for gene cloning experiments. We argue that one way forward is by using animal models. One of the features of quantitative traits is that the DNA sequence variants which are responsible for them are unlikely to be immediately recognizable. In contrast to many qualitative traits where a discrete phenotypic difference is often the consequence of an inactivating mutation, the allelic variation responsible for quantitative traits probably has a more subtle basis. This distinction means that strategies to clone the genetic basis of quantitative behavioural traits will have to rely on functional assays of alleles thought to be important in determining the phenotype. We suggest that an efficient strategy for detecting sequences that give rise to quantitative behavioural traits can be devised in the mouse. The importance and utility of the mouse for quantitative trait analysis make it worthwhile to investigate mouse models of human behaviour; these advantages outweigh the difficulties that arise in attempts to validate the animal models. As an example we review the evidence that validates rodent emotionality as an animal model for susceptibility to human anxiety. We show that there is good evidence that rodent emotionality is a central nervous system state with a genetic basis, and that there are neuropharmacological and neuroanatomical parallels with human anxiety. Furthermore, our own work has shown that the genetic basis of the trait is relatively simple, and that the task of characterizing it at a molecular level is feasible. We expect that future experiments will show us how genetic variation gives rise to quantitative behavioural traits.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Der Nervenarzt 67 (1996), S. 837-845 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Migräne ; Genetik ; Familiäre Hemiplegische Migräne ; Linkageanalyse ; Zwillingsstudien ; Assoziationsstudien ; Key words Migraine ; Familial Hemiplegic Migraine ; Genetics ; Linkage analysis ; Twin studies ; Association studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Several historical reports focusing on the heredity of migraine, as well as recent studies on its epidemiology and molecular biology, have revealed evidence for a decisive role of genetic factors in the aetiopathogenesis of familial migraine. Indeed, family studies, segregation analyses and twin studies have shown that genetic factors play an important role in disposition towards migraine but could not explain the entire aetiopathogenesis. The influence of extragenetic factors, however, remains mostly unknown. Recent linkage analyses have provided evidence for genetic heterogeneity. A locus for Familial Hemiplegic Migraine (FHM), the only known type of migraine that follows autosomal-dominant transmission, has been linked to chromosome 19p13 but genetic heterogeneity has also been shown, i. e. different types of migraine could be excluded from this locus. Further investigations should concentrate on identifying the FHM gene on chromosome 19p13, on linkage analyses with markers for different susceptibility genes, and on genomic analyses of highly informative pedigrees. This would lead to further clues to the pathogenesis underlying migraine and, thus, to therapeutic developments.
    Notes: Zusammenfassung Nachdem bereits in historischen Beschreibungen eine genetische Verursachung der Migräne vermutet worden war, haben epidemiologische und molekularbiologische Forschungen in den letzten Jahren differenzierte Ergebnisse über genetische Faktoren in der Ätiopathogenese der familiären Migräne geliefert. Aufgrund von Familien- und Segregationsanalysen und von Zwillingsstudien wird dargestellt, daß genetische Faktoren mit größter Wahrscheinlichkeit eine Rolle in der Pathogenese der typischen Migräne spielen. Inwieweit extragenetische Faktoren auf die Ätiopathogenese der Migräne Einfluß nehmen, ist weitgehend offen. Linkageanalysen haben in jüngster Zeit gezeigt, daß möglicherweise mehrere verschiedene Gene für diese Erkrankung verantwortlich sind. Für die Familiäre Hemiplegische Migräne (FHM), der einzigen Migräneform, für die ein autosomal-dominanter Erbgang nachgewiesen ist, konnte ein Genlocus auf Chromosom 19p13 gefunden werden, gleichzeitig wurde aber auch genetische Heterogenität nachgewiesen. Verschiedene andere Formen der Migräne zeigten keine Linkage zu diesem Locus. Weitere Forschungen sollten neben der Identifizierung des FHM-Gens auch Linkageanalysen für Kandidatengene und Genomanalysen an großen informativen Familien zum Ziel haben. Letztlich werden die Ergebnisse genaueren Einblick in die Pathophysiologie der Migräne liefern und damit therapeutisch relevant sein.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1433-2965
    Keywords: Bone density ; Femor geometry ; Genetics ; Twins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To estimate genetic effects on femoral neck geometry and the distribution of bone mineral within the proximal femur a cross-sectional twin analysis was carried out at a university hospital that compared correlations in these traits in pairs of mono- and dizygo-tic female twins. Monozygotic (MZ, n=51 pairs, age 49.1±9.3 years) and dizygotic (DZ, n=26 pairs, age 45.7±11.3 years) twins were randomly selected from a larger sample of twins previously studied. Measurements of bone mineral density (BMD), femoral neck angles and length, cross-sectional area and moment of interia, the center of mass of the narrowest cross-section of the femoral neck, and BMDs of regions within the femoral neck were made. A summary index of the resistance of the femoral neck to forces experienced in a fall with impact on the greater trochanter (Fall Index, FI) was calculated. MZ pair intraclass correlations (rMZ) were significantly (p〈0.05) different from zero for all bone mass and femoral geometry variables (0.35〈rMZ〈0.82). DZ pair correlations (rDZ) were lower thanrMZ for all variables (0.04〈rDZ〈0.52) except femoral neck length (rDZ=0.38, rMZ=0.36). After adjustment for BMD of the femoral neck,rMZ was significantly greater thanrDZ, yielding high heritability estimates for regional BMDs (0.72〈H 2〈0.78), the center of mass of the femoral neck (H 2=0.70, −0.04 to 1.43 95% CI) and the resistance of the femoral neck to forces experienced in a fall (FI,H 2=0.94, 0.06 to 1.85 95% CI), but not for femoral neck length. Adjustments for age did not alter these findings. It is concluded that there are significant familial influences on the distribution of femoral bone mass and on the calculated structural strength of the proximal femur, but not on femoral neck length. If the assumptions of the twin model are correct, this is evidence for genetic factors influencing these traits.
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  • 11
    ISSN: 1432-0533
    Keywords: Key words Alzheimer’s disease ; Clinicopathological ; correlations ; Early-onset dementia ; Genetics ; Pick’s ; disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    Diabetologia 39 (1996), S. 375-382 
    ISSN: 1432-0428
    Keywords: Genetics ; maternally inherited diabetes and deafness ; NIDDM ; IDDM ; mitochondria ; MELAS syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Diabetes mellitus is a common disease with many forms of clinical expression. In addition, the development of diabetic complications is not only dependent on glycaemic control but also on individual factors which may be related to genetic heterogeneity. At present, multiple genetic factors are being recognized as contributing to the development of diabetes or possibly modulating its clinical expression. The purpose of this review is to give an overview of our current knowledge on a subtype of diabetes which is apparently caused by a single mutation in the mitochondrial DNA.
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  • 13
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 540-544 
    ISSN: 1432-1076
    Keywords: Key words Amyloidosis ; Arab ; children ; Familial Mediterranean ; fever ; Genetics ; Recurrent ; abdominal pain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over a period of 3 years, 192 children with familial Mediterranean fever were prospectively studied. Of these, 106 (55%) were girls and 86 (45%) were boys. The prevalence was 1 : 2600 children with a gene frequency of 1 : 50. The age at onset ranged between 4 months and 16 years. Of these patients 24% started their illness below the age of 2 years and 88% were symptomatic before the age of 10 years; 82% had recurrent abdominal pain, 43% had pleurisy, 37% had arthritis, 15% had cutaneous manifestations, 12% had splenomegaly and 4% had hepatomegaly. The presenting symptoms were abdominal pain in 51%, unilateral chest pain in 23% and arthritis in 26%. The family history was positive in 62%. Of 12 affected families 19 members had/have renal failure and amyloidosis was confirmed in 7 patients. Conclusion Our data show a high prevalence of familial Mediterranean fever and a high gene frequency in Arab children similar to that reported in Jews and Armenians.
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  • 14
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 540-544 
    ISSN: 1432-1076
    Keywords: Amyloidosis ; Arab children ; Familial Mediterranean fever ; Genetics ; Recurrent abdominal pain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over a period of 3 years, 192 children with familial Mediterranean fever were prospectively studied. Of these, 106 (55%) were girls and 86 (45%) were boys. The prevalence was 1∶2600 children with a gene frequency of 1∶50. The age at onset ranged between 4 months and 16 years. Of these patients 24% started their illness below the age of 2 years and 88% were symptomatic before the age of 10 years: 82% had recurrent abdominal pain, 43% had pleurisy, 37% had arthritis, 15% had cutaneous manifestations, 12% had splenomegaly and 4% had hepatomegaly. The presenting symptoms were abdominal pain in 51%, unilateral chest pain in 23% and arthritis in 26%. The family history was positive in 62%. Of 12 affected families 19 members had/have renal failure and amyloidosis was confirmed in 7 patients.
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 92 (1996), S. 817-826 
    ISSN: 1432-2242
    Keywords: Key words  Zea mays ; RFLPs ; Plant breeding ; Genetics ; Recombination ; Abbreviations  RFLPs Restriction fragment length polymorphisms ; QTL quantitative trait loci ; RIs recombinant inbreds
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract   This study was conducted to compare maize quantitative trait loci (QTL) detection for grain yield and yield components in F2:3 and F6:7 recombinant inbred (RI) lines from the same population. One hundred and eighty-six F6:7 RIs from a Mo17×H99 population were grown in a replicated field experiment and analyzed at 101 loci detected by restriction fragment length polymorphisms (RFLPs). Single-factor analysis of variance was conducted for each locus-trait combination to identify QTL. For grain yield, 6 QTL were detected accounting for 22% of the phenotypic variation. A total of 63 QTL were identified for the seven grain yield components with alleles from both parents contributing to increased trait values. Several genetic regions were associated with more than one trait, indicating possible linked and/or pleiotropic effects. In a comparison with 150 F2:3 lines from the same population, the same genetic regions and parental effects were detected across generations despite being evaluated under diverse environmental conditions. Some of the QTL detected in the F2:3 seem to be dissected into multiple, linked QTL in the F6:7 generation, indicating better genetic resolution for QTL detection with RIs. Also, genetic effects at QTL are smaller in the F6:7 generation for all traits.
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  • 16
    Electronic Resource
    Electronic Resource
    Springer
    Psychopharmacology 124 (1996), S. 332-339 
    ISSN: 1432-2072
    Keywords: Nicotine ; Genetics ; Self-administration ; Reinforcement ; Seizures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Inbred mouse strains differ in sensitivity to a first dose of nicotine and in the development of tolerance to nicotine. The experiments reported here used six inbred mouse strains (A, BUB, C3H, C57BL/6, DBA/2, ST/b) that differ in sensitivity to an acute challenge dose of nicotine to determine whether differences in oral self-selection of nicotine exist. Animals were presented with solutions containing nicotine or vehicle (water or 0.2% saccharin) and their daily intake of the two fluids was measured for 4 days starting with a 10 µg/ml nicotine solution. This was followed by sequential 4-day testing with 20, 35, 50, 65, 80, 100, 125, 160, and 200 µg/ml nicotine solutions. The strains differed dramatically in their self-selection of nicotine and in maximal daily dose (mg/kg); the rank order of the strains was C57BL/6〉DBA〉BUB〉A≥C3H≥ST/b for both the tap water and 0.2% saccharin choice experiments. Correlations between nicotine consumption and sensitivity to nicotine, as measured by a battery of behavioral and physiological responses, were also calculated. Strain differences in nicotine intake were highly correlated with senstivity to nicotine-induced seizures. As senstivity to nicotine-in-duced seizures increases, oral self-selection of nicotine decreases. This finding may suggest that this toxic action of nicotine serves to limit intake.
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  • 17
    ISSN: 1530-0358
    Keywords: Colorectal neoplasms ; Genetics ; K-ras ; Gene mutations ; Early diagnosis ; Polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: Best chances of a cure from colorectal cancer are obtained before metastatic spread. Lack of specific tests allowing early diagnosis of the tumor accounts for investigation of gene alterations involved in carcinogenesis by a noninvasive method. In the present study, K-ras codons 12 and 13 mutations were studied in neoplastic cells shed from the bowel into the stool and those contained in the tumor and normal mucosa. Moreover, healthy patients and a few others with precancerous conditions were examined. METHODS: Stool, tumor, and mucosa samples were taken from 25 patients with colorectal adenocarcinoma. Stool and mucosa samples were obtained from 11 healthy patients, and stool, pathologic bowel tissue, and normal mucosa samples were obtained from 3 patients with adenoma (1) or ulcerative colitis (2). Polymerase chain reaction amplification and restriction enzyme analysis were performed. RESULTS: K-ras codon 12 mutations were detected in both tumor and stool samples of 10 cancer patients, and no gene alterations were observed in 14 patients. In one patient with a tumor, a mutation was shown in only the tumor tissue. The agreement rate in tumor and stool analysis was 96 percent. A normal pattern of K-ras codons 12 and 13 was observed in the bowel mucosa. All stool and mucosa samples from healthy patients were not altered in K-ras.Agreement was registered between samples taken from patients with preneoplastic lesions. CONCLUSIONS: These preliminary findings show a high rate of accuracy in the investigation of K-ras alterations in the colorectal cells shed into the feces, suggesting that such an approach could be used to study other gene alterations and, prospectively, to identify early colorectal cancers.
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  • 18
    ISSN: 1437-160X
    Keywords: SLE ; Apoptosis ; bcl-2 gene ; Susceptibility ; Linkage ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Systemic lupus erythematosus (SLE) is an autoimmune disease characterised by the production of a large number of autoantibodies. It has been postulated that this may be the result of prolonged longevity of auto-reactive B cells due to defective regulation of programmed cell death (apoptosis). The proto-oncogenebcl-2 is involved in the control of apoptosis in immunocompetent cells, and its over-expression is noted in T and B cells from SLE patients. This study examined the genetic linkage between thebcl-2 gene locus and SLE susceptibility using the affected sib-pair method in SLE families. Seventeen caucasian multiplex families were evaluated. A polymorphic microsatellite marker closely linked to thebcl-2 gene on 18g21.3 was used to determine thebcl-2 genotype. We demonstrated that haplotype sharing among the affected sibling pairs was not statistically different from random (P〉0.5). This suggests that thebcl-2 gene locus does not confer a genetic susceptibility to SLE expression.
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  • 19
    ISSN: 1573-0905
    Keywords: Compensation ; Dyslexia ; Environment ; Familial aggregation ; Genetics ; Risk
    Source: Springer Online Journal Archives 1860-2000
    Topics: Education
    Notes: Abstract When one or both parents have a history of developmental reading disorder (RD) in childhood, the risk to their offspring for developing reading problems is substantially increased. However, risk research has usually assumed a stability of reading problems across the lifespan (i.e., if a parent was affected in childhood, he or she remains affected in adulthood). Yet, some individuals with RD in childhood compensate for the disorder as they grow older. Both an environmental and genetic hypothesis would predict that the risk for RD in offspring will vary as a function of parental compensation. This study examined whether risk to offspring was dependent on the parents' successful or unsuccessful compensation for their childhood reading problems. Two large family data sets were analyzed (N=907). Diagnoses with either an age discrepant or IQ discrepant criteria essentially showed that having at least one still affected parent (i.e., RD both as a child and as an adult) put the offspring at a higher risk for RD than having at least one compensated parent (i.e., RD as a child but not as an adult). The lowest risk to an offspring occurred when both parents were never affected (i.e., not RD as a child or as an adult). The implications of these findings are discussed with regard to counseling and early diagnosis of reading problems.
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  • 20
    Electronic Resource
    Electronic Resource
    Springer
    European archives of psychiatry and clinical neuroscience 246 (1996), S. 175-181 
    ISSN: 1433-8491
    Keywords: Schizophrenia ; Genetics ; Liability ; Vulnerability ; Eye-tracking dysfunction ; Eye movements ; Smooth-pursuit eye movements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract There is increasing evidence that the genetic predisposition for schizophrenia in families affects more individuals than those fulfilling the criteria for schizophrenia. This finding is supposed to be one of the major problems in molecular genetic schizophrenia research, especially when linkage studies are employed. Eye-tracking dysfunction (ETD), which is conceived as a possible phenotypic marker for genetic liability to schizophrenia, may offer considerable advantages. However, there is only little information from families with multiple occurrence of schizophrenia. It is still unclear whether in these families ETD aggregates with diagnoses from the schizophrenia spectrum. This first report from an ongoing study presents the results of 48 individuals from 6 multiplex families. Smooth-pursuit eye movements were recorded by infrared reflectometry and assessed by quantitative measurement techniques. Along with the high degree of psychiatric morbidity in these families, in 56.3% of the individuals ETD was assessed. Reduced mean pursuit gain was present in 39.6%. The distribution of eye-tracking dysfunction resembles the distribution of schizophrenia-related psychiatry morbidity.
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  • 21
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 92 (1996), S. 267-272 
    ISSN: 1432-2242
    Keywords: Cerrado ; Savannah ; Acid soils ; Hydroponics ; Nutrient ; Variety ; Genetics ; Inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The soybean is a major crop in the agricultural systems of the Brazilian Cerrados (Savannahs), whose soils are acidic, devoid of nutrients and need to be amended before they are cultivated. However, below the ploughed layer there is a scarcity of nutrients and toxic aluminium (Al). These limit root growth, subsequently causing nutritional imbalance and drought stress. Our aim in the investigation described here was to identify genetic differences in the aluminium tolerance of soybeans by a 9 × 9 diallel cross among contrasting varieties grown in high-Al areas and in hydroponics. Combining ability analysis indicated predominantly additive gene effects, and the additive-dominance model explained most of the genetic differences in this germ plasm for mineral element absorption and root growth under aluminium stress. The relationship between the two factors suggest that conjugation hydroponics and field evaluations in breeding programmes would further improve soybeans with respect to yield stability under tropical cultivation conditions.
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  • 22
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 93 (1996), S. 301-306 
    ISSN: 1432-2242
    Keywords: Leptosphaeria maculans ; Brassica napus ; Blackleg ; Genetics ; Virulence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The genetic basis of virulence of 24 isolates of L. maculans collected from various sites throughout south-eastern and south-western Australia were studied using five clone-lines of B. napus. The experimental design allowed the estimation of the environmental and genetic components of variance using a standard analysis of variance. Virulence of these isolates (as measured by the percentage of stem girdling, %G) on the clonelines NCII and Tap was found to be most likely controlled by a small number of genes; the broad-sense heritabilities were 79.7% and 67.5% for virulence on NCII and Tap, respectively. The significance of these results in relation to the potential of L. maculans in adapting to new resistant B. napus cultivars is discussed.
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  • 23
    ISSN: 1432-2242
    Keywords: Extreme virus resistance ; Potyviruses ; Genetics ; Genes Ry and Ra ; New gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Extreme resistance in cultivated potato (Solanum tuberosum) to potato viruses Y and A (PVY and PVA) conditioned by the presence of Ry genes introduced from Solanum stoloniferum was described by Cockerham (1970). Cockerham detailed a number of genes which controlled a variety of reactions, including extreme resistance to both viruses (i.e. little or no visible reaction of plants and no viral replication following graft and manual inoculation) controlled by gene Ry sto. In the present study, cvs ‘Pirola’ and ‘Barbara’, which contain a Ry gene, were found to have extreme resistance to PVY isolates from the ordinary (PVY°), veinal necrosis (PVYN) and potato tuber necrotic ringspot (PVYNTN) subgroups, and PVA. The inheritance of this phenotype was examined in seedling progenies obtained by crossing ‘Barbara’ and ‘Pirola’ with susceptible cultivars. Segregation data for resistance to PVY and PVA in a progeny involving cv ‘Pirola’ best fitted a genetical model of one gene controlling extreme resistance to both PVY and PVA, although the possibility that there are two genes, each controlling resistance to one virus but closely linked, cannot be excluded. Segregation data from progenies involving cv ‘Barbara’ best fitted a genetical model in which there are two independent genes, one controlling extreme resistance to PVA and PVY and a second gene controlling extreme resistance to PVA but not to PVY. This previously unrecognised gene conferring extreme resistance to PVA only, should be given the notation Ra in keeping with nomenclature used for other resistance genes.
    Type of Medium: Electronic Resource
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  • 24
    ISSN: 1432-2242
    Keywords: Aluminum toxicity ; Diallel analysis ; Genetics ; Rice ; Variability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A study was undertaken to investigate the variability among lowland rice cultivars and the mode of gene action of aluminum (Al) toxicity tolerance in rice. Pregerminated seeds were grown in a nutrient solution containing 30 ppm Al and in normal nutrient solution, and relative root length (RRL) was determined at the 14-day-old stage to characterize genotypes for tolerance. Sixty-two traditional rice cultivars grown on lowland acid sulfate soil areas of Asia and West Africa were tested. Tolerant varieties ‘Azucena’, ‘IRAT104’, and ‘Moroberekan’, moderately sensitive ‘IR29’ and ‘IR43’, and sensitive ‘IR45’ and ‘IR1552’ were used to investigate the genetics of tolerance by diallel analysis. Of the 62 cultivars tested, only 3 were found to be sensitive to A l toxicity. Among the tolerant cultivars identified, 11 (‘Siyam Kuning’, ‘Gudabang Putih’, ‘Siyam’, ‘Lemo’, ‘Khao Daeng’, ‘Siyamhalus’, ‘Bjm-12’, ‘Ketan’, ‘Seribu Gantang’, ‘Bayer Raden Rati’, and ‘Padi Kanji’) were found to possess higher levels of tolerance than the improved tolerant upland cultivar ‘IRAT104’. Diallel analysis revealed that high RRL is governed by both additive and dominance effects with a preponderance of additive effects. The trait exhibited partial dominance, and one group of genes was detected. Heritability was high, and environmenal effects were low. Findings suggest that when breeding for A1 toxicity tolerance, selection can be made in early generations. The pedigree method of breeding would be suitable. Combining ability analysis revealed the importance of both general combining ability (GCA) and specific combining ability (SCA) in the genetics of A1 toxicity tolerance in rice. GCA was more prevalent than SCA. Tolerant parens ‘Azucena’, ‘IRAT104’, and ‘Moroberekan’ were the best general combiners. The presence of reciprocal effects among crosses suggested the proper choice of parents in hybridization programs. Results indicated that ‘Azucena’, ‘IRAT 104’, and ‘Moroberekan’ should be used as the female in crosses for A1 toxicity tolerance.
    Type of Medium: Electronic Resource
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  • 25
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 93 (1996), S. 932-940 
    ISSN: 1432-2242
    Keywords: Genetics ; Adult-plant ; Blackleg resistance ; Brassica napus ; Leptosphaeria maculans ; Australian cultivar
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The genetic control of adult-plant blackleg [Leptosphaeria maculans (Desm.) Ces. et De Not.] resistance in rapeseed (Brassica napus L.) was studied in the F2 and first-backcross populations of the cross “Maluka” (blackleg-resistant) x “Niklas” (highly susceptible). A L. maculans isolate possessing high levels of host specificity (MB2) was used in all inoculations. Resistance/susceptibility was evaluated using three separate measures of crown-canker size, i.e. the percentage of crown girdled (%G), external lesion length (E) and internal lesion area (%II). Disease severity scores for the F2 and first-backcross populations based on E and %II gave discontinuous distributions, indicating major-gene control for these measures of resistance; but those for %G were continuous, indicating quantitative genetic control for this measure. Chi-square tests performed on the (poorly-defined) resistance classes, based on E, in the F2 and first-backcross populations indicated the likelihood for resistance being governed by a single, incompletely dominant major gene. Although the distributions of the F2 and first-backcross populations, based on%II, were clearly discontinuous, the observed segregation ratios for resistance and susceptibility did not fit any of the numerous Mendelian ratios which were considered. Differences in inheritance of resistance according to the assessment method and blackleg isolate used, were discussed.
    Type of Medium: Electronic Resource
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  • 26
    ISSN: 1573-0905
    Keywords: Differential diagnosis ; Etiology ; Genetics ; Mathematics performance ; Reading disability ; Twins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Education
    Notes: Abstract In order to assess the etiology of reading disability as a function of mathematics performance, data from 168 monozygotic (MZ) and 127 same-sex dizygotic (DZ) twin pairs in which at least one member of each pair was reading-disabled were subjected to quantitative genetic analyses. MZ and DZ concordance rates for reading disability were computed for different levels of mathematics performance, and reading performance data were fitted to an extension of the basic multiple regression model for the analysis of selected twin data. Results of these analyses suggest that genetic factors may be especially salient as a cause of reading disability in children with borderline deficits in mathematics performance: thus, mathematics performance may be a valid dimension for diagnosing subtypes of reading disability.
    Type of Medium: Electronic Resource
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  • 27
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 12 (1996), S. 1677-1702 
    ISSN: 0749-503X
    Keywords: Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: No Abstract
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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  • 28
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 12 (1996), S. 1647-1675 
    ISSN: 0749-503X
    Keywords: yeast ; phosphorylation ; protein phosphatase ; PP1 ; PP2A ; PP2B ; calcineurin ; Sit4 ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Since the isolation of the first yeast protein phosphatase genes in 1989, much progress has been made in understanding this important group of proteins. Yeast contain genes encoding all the major types of protein phosphatase found in higher eukaryotes and the ability to use powerful genetic approaches will complement the wealth of biochemical information available from other systems. This review will summarize recent progress in understanding the structure, function and regulation of the PPP family of protein serine-threonine phosphatases, concentrating on the budding yeast Saccharomyces cerevisiae.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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  • 29
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 12 (1996), S. 1635-1646 
    ISSN: 0749-503X
    Keywords: Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: No Abstract
    Additional Material: 8 Ill.
    Type of Medium: Electronic Resource
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  • 30
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 12 (1996), S. 1607-1633 
    ISSN: 0749-503X
    Keywords: Yeast ; glycolysis ; TCA cycle ; sugar metabolism ; metabolic engineering ; pyruvate decarboxylase ; pyruvate carboxylase ; pyruvate dehydrogenase complex ; alcoholic fermentation ; Crabtree effect ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: In yeasts, pyruvate is located at a major junction of assimilatory and dissimilatory reactions as well as at the branch-point between respiratory dissimilation of sugars and alcoholic fermentation. This review deals with the enzymology, physiological function and regulation of three key reactions occurring at the pyruvate branch-point in the yeast Saccharomyces cerevisiae: (i) the direct oxidative decarboxylation of pyruvate to acetyl-CoA, catalysed by the pyruvate dehydrogenase complex, (ii) decarboxylation of pyruvate to acetaldehyde, catalysed by pyruvate decarboxylase, and (iii) the anaplerotic carboxylation of pyruvate to oxaloacetate, catalysed by pyruvate carboxylase. Special attention is devoted to physiological studies on S. cerevisiae strains in which structural genes encoding these key enzymes have been inactivated by gene disruption.
    Additional Material: 7 Ill.
    Type of Medium: Electronic Resource
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  • 31
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 12 (1996), S. 1603-1606 
    ISSN: 0749-503X
    Keywords: Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: No Abstract
    Additional Material: 1 Tab.
    Type of Medium: Electronic Resource
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