8号染色体微卫星（MS8 - 134）与沃纳综合征（WRN）之间的遗传关联：染色体显微切割与纯合性定位

Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping.

作者信息

Ye L, Nakura J, Mitsuda N, Fujioka Y, Kamino K, Ohta T, Jinno Y, Niikawa N, Miki T, Ogihara T

机构信息

Department of Geriatric Medicine, Osaka University Medical School, Japan.

出版信息

Genomics. 1995 Aug 10;28(3):566-9. doi: 10.1006/geno.1995.1189.

DOI:10.1006/geno.1995.1189

PMID:7490095

Abstract

Werner syndrome (WRN) is an autosomal recessive disorder characterized by premature aging that has been mapped to the short arm of chromosome 8, 8p11.2-p12. To refine the genetic map around the WRN region, we have isolated eight microsatellites for this region from a microdissection library. We typed members of Japanese families with WRN on the basis of homozygosity mapping analysis. There was no obligate recombination between the WRN locus and microsatellite clone, MS8-134 (D8S1055). The maximum lod score was 20.28 at theta = 0.00. Alleles for MS8-134 showed association with WRN in a case-control study (OR = 3.55, 95% CI 1.56-8.07, P < 0.01). Such microsatellites from a microdissection library of the definite chromosome region may be useful for positional cloning of the WRN gene.

摘要

沃纳综合征（WRN）是一种常染色体隐性疾病，其特征为早衰，该疾病的基因已被定位于8号染色体短臂8p11.2 - p12区域。为了优化WRN区域周围的遗传图谱，我们从一个显微切割文库中为该区域分离出了8个微卫星。我们根据纯合性定位分析对患有WRN的日本家族成员进行了分型。在WRN基因座与微卫星克隆MS8 - 134（D8S1055）之间未发现明确的重组。在θ = 0.00时，最大对数优势分数为20.28。在一项病例对照研究中，MS8 - 134的等位基因显示与WRN相关（比值比= 3.55，95%可信区间1.56 - 8.07，P < 0.01）。来自特定染色体区域显微切割文库的此类微卫星可能有助于WRN基因的定位克隆。