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  • 1
    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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  • 2
    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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  • 3
    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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  • 4
    Electronic Resource
    Electronic Resource
    DNA restriction fragment length polymorphisms and heterozygosity in the human genome (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 1-16 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A list is presented of published reports of DNA polymorphisms found in the human genome by restriction enzyme analysis. While the list indicates the large number of restriction fragment length polymorphisms (RFLPs) detected to date, the information collated is insufficient to permit an estimate of heterozygosity for the genome as a whole. Data from our laboratory are therefore also presented on RFLPs detected using a random sample of cloned DNA segments. Such an analysis has permitted a first unbiassed estimate of heterozygosity for the human genome. Since this figure is an order of magnitude higher than previous estimates derived from protein data, the majority of polymorphic variation present in the human genome must, by implication, occur in noncoding sequences. In addition it was confirmed that enzymes containing the dinucleotide CpG in their recognition sequences detect more polymorphic variation than those that do not contain a CpG. Also presented are the clinical applications of DNA polymorphisms in the diagnosis of human genetic disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275182
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  • 5
    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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  • 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
    Restriction fragment length polymorphisms at the human parathyroid hormone gene locus (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 428-431 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two common Pst I and Taq I restriction enzyme fragment length polymorphisms (RFLPs) were detected at the human parathyroid hormone (PTH) gene locus. The allele frequencies in a Northern German population were 0.578/0.422 (Pst I) and 0.628/0.372 (Taq I). The allele distributions follow Hardy-Weinberg expectations of equilibrium in the population. The Mendelian nature of the polymorphisms were confirmed in family studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291404
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  • 8
    Electronic Resource
    Electronic Resource
    Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 417-418 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This study analyses distribution patterns of the ΔF508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the ΔF508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between ΔF508 and all markers tested.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02428289
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  • 9
    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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  • 10
    Electronic Resource
    Electronic Resource
    An estimate of unique DNA sequence heterozygosity in the human genome (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 201-205 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fifteen different restriction fragment length polymorphisms (RFLPs) were detected in the human genome using 19 cloned DNA segments, derived from flow-sorted metaphase chromosomes or total genomic DNA, as hybridization probes. Since these clones were selected at random with respect to their coding potential, their analysis permitted an unbiassed estimate of single-copy DNA sequence heterozygosity in the human genome. Since our estimate (h=0.0037) is an order of magnitude higher than previous estimates derived from protein data, most of the polymorphic variation present in the genome must occur in non-coding sequences. In addition, it was confirmed that enzymes containing the dinucleotide CpG in their recognition sequence detect more polymorphic variation than those that do not contain CpG.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293024
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