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  • 1
    Electronic Resource
    Electronic Resource
    Human gene cloning: the storm before the lull? (1986)
    [s.l.] : Nature Publishing Group
    Nature 322 (1986), S. 119-119 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR-Hardly a week goes by without an article in Nature describing the cloning of a human DNA sequence. Yet it is barely nine years since the first cloning of a human gene sequence, chorionic somato-mammotropin, was reported in Naturel Since then, some five hundred different human gene sequences ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/322119a0
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  • 2
    Electronic Resource
    Electronic Resource
    Isozymes of a tunicate and a cephalochordate as a test of polyploidisation in chordate evolution (1977)
    [s.l.] : Nature Publishing Group
    Nature 266 (1977), S. 532-533 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Comparative isozyme studies have proved a powerful tool in substantiating ancestral diploid-tetraploid relationships, for example in teleostean fish14 and various examples of gene duplication in mammals including man have been taken as support of the idea of ancestral polyploidy in this taxonomic ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/266532a0
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  • 3
    Electronic Resource
    Electronic Resource
    DNA sequence organisation in avian genomes (1978)
    Springer
    Chromosoma 69 (1978), S. 307-321 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract By means of renaturation kinetics of DNA of the three avian species Cairina domestica, Gallus domesticus and Columba livia domestica the following major DNA repetition classes were observed: a very fast reannealing fraction comprising about 15% of the DNA, a fast or intermediate reannealing fraction that makes up 10%, and a slow reannealing fraction of about 70%, which apparently renatures with single copy properties. — Comparing the reassociation behaviour of short (0.3 kb) and long (〉2 kb) DNA fragments of duck and chicken it becomes apparent that only 12% (duck) and 28% (chicken) of the single copy DNA are interspersed with repetitive elements on 2 to 3 kb long fragments. The lengths of the repetitive sequences were estimated by optical hyperchromicity measurements, by agarose A-50 chromatography of S1 nuclease resistant duplexes and by electron microscopic measurements of the S1 nuclease resistant duplexes. It was found that in the case of the chicken DNA the single copy sequences alternating with middle repetitive ones are at least 2.3 kb long; the interspersed moderate repeats have a length average of at least 1.5 kb. The sequence length of the moderate repeats in duck DNA is smaller. The results show that the duck and the chicken genomes do not follow the short period interspersion pattern of genome organisation, characteristic of the eucaryotic organisms studied so far.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00332134
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  • 4
    Electronic Resource
    Electronic Resource
    Non-repetitive DNA sequence divergence in phylogenetically diploid and tetraploid teleostean species of the family cyprinidae and the order isospondyli (1979)
    Springer
    Chromosoma 75 (1979), S. 185-198 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Non-repetitive DNA of anciently tetraploid teleostean species was analysed for the presence of duplicated sequences. Closely related diploid species were investigated in comparison. From the reassociation kinetics of total nuclear DNA, rate constants and fraction sizes of classes of repetitive and non-repetitive sequences were determined. DNA fractions enriched in the slowest renaturing sequence class were prepared and subjected to reassociation. The rate constants of these reactions were compared with the values expected for single-copy DNA from analytical genome size determinations. From reassociated DNA enriched in non-repetitive sequences also the melting temperatures were determined as a measure of internal base sequence heterogeneity. It has been shown that the two ancient tetraploids Cyprinus carpio and Thymallus thymallus are, with regard to the thermal stability of reassociated non-repetitive DNA, and with regard to the correspondence of reaction rates with the values expected for single copy DNA, indistinguishable from diploid controls (Rutilus rutilus, Clupea harengus and Sprattus sprattus). The tetraploid species Salmo irideus, Salvelinus fontinalis and Coregonus lavaretus appear as very recent tetraploids with regard to these criteria. The significance of the results for estimating the time of occurence of polyploidisation events in these taxa is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292207
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  • 5
    Electronic Resource
    Electronic Resource
    Contrasting DNA sequence organisation patterns in sauropsidian genomes (1979)
    Springer
    Chromosoma 75 (1979), S. 199-214 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The genomic DNA organisation patterns of four sauropsidian species, namely Python reticularis, Caiman crocodilus, Terrapene carolina triungius and Columba livia domestica were investigated by reassociation of short and long DNA fragments, by hyperchromicity measurements of reannealed fragments and by length estimations of S1-nuclease resistant repetitive duplexes. While the genomic DNA of the three reptilian species shows a short period interspersion pattern, the genome of the avian species is organised in a long period interspersion pattern apparently typical for birds. These findings are discussed in view of the close phylogenetic relationships of birds and reptiles, and also with regard to a possible relationship between the extent of sequence interspersion and genome size.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292208
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  • 6
    Electronic Resource
    Electronic Resource
    On the problem of regional gene duplication in diploid fish of the orders Ostariophysi and Isospondyli (1974)
    Springer
    Human genetics 〈Berlin〉 21 (1974), S. 39-45 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung DNS-Messungen, Chromosomenanalysen und die Untersuchung individueller Genloci haben eine Diploid-tetraploid-Beziehung in der Fischfamilie Cyprinidae aufgedeckt. Intermediäre DNS-Werte bei einigen diploiden Species dieser Fischfamilie werden als Folge regionaler Duplikationen interpretiert. Die Analyse von 8 verschiedenen Isoenzymsystemen ergab jedoch für diese Species jeweils nur die diploide Anzahl von Genen; das schließt auch den 6-PGD-Locus mit ein, der irrtümlicherweise als dupliziert angesehen worden war. In der Ordnung Isospondyli, in der ebenfalls eine Diploid-tetraploid-Beziehung etabliert ist, gibt jedoch der Stint, Osmerus esperlanus, ein klares Beispiel für die Duplikation einzelner Genloci. Bei diesem Repräsentanden der diploiden Gruppe sind die für die S-AAT und die PGI codierenden Gene dupliziert.
    Notes: Summary DNA measurements, the number of chromosomes and the analysis of individual gene loci revealed a diploid-tetraploid relationship among members of the fish family Cyprinidae. Intermediate DNA values in some diploid species of this family are interpreted as the result of regional duplications. However, the analysis of 8 different isoenzyme systems in these species always confirmed the presence of only the dioploid number of genes; this includes the gene for the enzyme 6-PGD which was erraneously reported to be duplicated. In the order Isospondyli, on the other hand, where a diploid-tetraploid relationship has likewise been established, the smelt, Osmerus esperlanus provides a clear example for the duplication of single genes. In this representative of the diploid group the genes for S-AAT and PGI are duplicated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278563
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  • 7
    Electronic Resource
    Electronic Resource
    Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 365-377 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%–2% of male infertility. A high incidence of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has recently been reported in males with CAVD. We have investigated a cohort of 106 German patients with congenital bilateral or unilateral absence of the vas deferens for mutations in the coding region, flanking intron regions and promotor sequences of the CFTR gene. Of the CAVD patients, 75% carried CFTR mutations or disease-associated CFTR variants, such as the “5T” allele, on both chromosomes. The distribution of mutation genotypes clearly differed from that observed in cystic fibrosis. None of the CAVD patients was homozygous for ΔF508 and none was compound heterozygous for ΔF508 and a nonsense or frameshift mutation. Instead, homozygosity was found for a few mild missense or splicing mutations, and the majority of CAVD mutations were missense substitutions. Twenty-one German CAVD patients were compound heterozygous for ΔF508 and R117H, which was the most frequent CAVD genotype in our study group. Haplotype analysis indicated a common origin for R117H in our population, whereas another frequent CAVD mutation, viz. the “5T allele” was a recurrent mutation on different intragenic haplotypes and multiple ethnic backgrounds. We identified a total of 46 different mutations and variants, of which 15 mutations have not previously been reported. Thirteen novel missense mutations and one unique amino-acid insertion may be confined to the CAVD phenotype. A few splice or missense variants, such as F508C or 1716 G→A, are proposed here as possible candidate CAVD mutations with an apparently reduced penetrance. Clinical examination of patients with CFTR mutations on both chromosomes revealed elevated sweat chloride concentrations and discrete symptoms of respiratory disease in a subset of patients. Thus, our collaborative study shows that CAVD without renal malformation is a primary genital form of cystic fibrosis in the vast majority of German patients and links the particular expression of clinical symptoms in CAVD with a distinct subset of CFTR mutation genotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050518
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  • 8
    Electronic Resource
    Electronic Resource
    Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S186 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cystic fibrosis ; Haemochromatosis ; Mutation analysis ; Screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hereditary haemochromatosis (HH) and cystic fibrosis (CF) are the most common autosomal recessively inherited disorders in Caucasian populations. In its typical form, CF manifests during the first years of life, while the mean age of onset of organ damage is 54 years in HH. Both disorders can be diagnosed presymptomatically utilising biochemical and/or genetic testing. Since approximately 90% of mid-European HH patients are homozygous for only one specific mutation (C282Y) in the candidate gene for HH, genetic testing is simple and sensitive in HH. In CF, molecular testing is currently hampered by the large number (more than 800) of mutations in the CF transmembrane conductance regulator gene. Several studies have been initiated to investigate the potential benefits and the best time and mode of presymptomatic testing for HH and CF. Conclusion Mutation analysis is widely recommended for presymptomatic diagnosis of cystic fibrosis and hereditary haemochromatosis because of the presumed benefit, although several medical, ethical, social and technical questions warrant further investigations. Prenatal mutation testing is commonly performed for cystic fibrosis but not for hereditary haemochromatosis. Informed consent of tested individuals and the availability of genetic counselling is a prerequisite for any mutation screening approach in either disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014400
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  • 9
    Electronic Resource
    Electronic Resource
    Diagnosis of genetic disease using recombinant DNA. Supplement (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 66-75 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease as the DNA level. We present here a list of recent reports of both direct and indirect analysis of human inherited disease which is intended to serve as a guide to current molecular genetic approaches to diagnostic medicine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284717
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  • 10
    Electronic Resource
    Electronic Resource
    Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 409-410 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was found in 8 out of 30 Turkish cystic fibrosis (CF) chromosomes (27%). Five Turkish ΔF508 CF chromosomes were associated with the risk haplotype B in KM19 (2 allele)/XV2c (1 allele). In the Turkish population, cystic fibrosis is predominantly caused by mutations other than the F508 deletion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02428283
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