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  • 11
    Electronic Resource
    Electronic Resource
    In vivo somatic mutations in Werner’s syndrome (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 405-410 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The frequencies of mutant erythrocytes with loss of heterozygosity at the glycophorin A (GPA) locus and mutant CD4+ T cells lacking surface expression of the T-cell receptor αβ (TCR)/CD3 complex were measured by flow cytometry for Japanese Werner’s syndrome (WRN) patients. The hemizygous and homozygous GPA mutant frequencies (GPA Mfs) and the TCR/CD3-defective mutant frequency (TCR Mf) in WRN patients were found to be significantly higher than those in normal controls in the same age range. However, because these Mfs in the patients are only about twice those in controls, it is difficult to conclude that the WRN gene mutations cause instability of somatic genes. This contrasts markedly with Bloom’s syndrome (BLM) patients, whose GPA and TCR Mfs were previously reported to increase about 50- and 15-fold, respectively. The difference in Mfs is one aspect of the large variation in the phenotype observed between WRN and BLM patients, suggesting a different role of the responsible genes, both of which belong to the RecQ DNA helicase gene family, in the control of somatic mutagenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050841
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    Paper (German National Licenses)
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  • 12
    Electronic Resource
    Electronic Resource
    Estimation of the physical distance between major genomic markers in the Werner syndrome locus (8p 11.2-12) by dual-color fish analysis (1996)
    Springer
    Journal of human genetics 41 (1996), S. 291-297 
    Details
    ISSN: 1435-232X
    Keywords: Werner syndrome ; FISH ; physical distance ; polymorphic markers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The gene responsible for Werner syndrome (WS) is considered to be located between D8S131 and D8S87 in the 8p11.2-12 region that includes the closest marker D8S339 (Gotoet al. (1992) Nature355: 735–738). In this experiment, the order of major markers in this region was determined and the physical distances between them were estimated by dual-color fluorescencein situ hybridization (FISH) using P1, PAC and cosmid clone DNAs as probes. The fine overall order of telomere-D8S131-D8S339-GSR-PP2Aβ-D8S283-D8S87-centromere was determined for the first time. The distance from D8S131 to D8S87 was estimated to be 1,634 kb. To our surprise, the distance between D8S131 and D8S87 is much shorter than previously estimated by recombination analysis, 8.3 cM equivalent to 8.3 Mb in physical distance. These information provide the basis for the positional cloning of WS gene and the identification of its mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01913171
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    Paper (German National Licenses)
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