Linkage disequilibrium and haplotype studies of chromosome 8p 11. 1-21. 1 markers and Werner syndrome

Journal Article · Mon Aug 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7101428

Yu, Chang-En; Schellenberg, G D; Oshima, Junko; Martin, G M; Goddard, K A.B.; Wijsman, E M ^[1]; Miki, Tetsuro; Nakura, Jun; Ogihara, Toshio ^[2]; Poot, M; Hoehn, H ^[3]

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1. Univ. of Washington, Seattle (United States)
2. Osaka Univ. (Japan)
3. Univ. of Wurzburg (Germany); and others

Werner syndrome (WS) is an autosomal recessive disorder, characterized as a progeroid syndrome, previously mapped to the 8p 11.2-21.1 region. Because WS is so rare, and because many patients are from consanguineous marriages, fine localization of the gene by traditional meiotic mapping methods is unlikely to succeed. Here the authors present the results of a search for a region that exhibits linkage disequilibrium with the disorder, under the assumption that identification of such a region may provide an alternative method of narrowing down the location of WRN, the gene responsible for WS. They present allele frequencies in Japanese and Caucasian cases and controls for D8S137, D8S131, D8S87, D8S278, D8S259, D8S283, fibroblast growth factor receptor 1, ankyrin 1, D8S339, and two polymorphisms in glutathione reductase (GSR), covering [approximately] 16.5 cM in total. They show that three of the markers examined - D8S339 and both polymorphisms in the GSR locus - show strong statistically significant evidence of disequilibrium with WRN in the Japanese population but not in the Caucasian population. In addition, they show that a limited number of haplotypes are associated with the disease in both populations and that these haplotypes define clusters of apparently related haplotypes that may identify as many as eight or nine independent WRN mutations in these two populations. 36 refs., 1 fig., 4 tabs.

• OSTI ID: 7101428
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AGING
CHROMOSOMES
DETECTION
DISEASES
ETIOLOGY
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
HUMAN CHROMOSOMES
MAPPING