Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping.
Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping.
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8 号染色体微卫星 (MS8-134) 与维尔纳综合征 (WRN) 之间的遗传关联：染色体显微切割和纯合性作图。
DOI：
10.1006/geno.1995.1189
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发表时间：
1995
期刊：
影响因子：
4.4
通讯作者：
T. Ogihara
中科院分区：
文献类型：
--
作者：
L. Ye;J. Nakura;N. Mitsuda;Y. Fujioka;K. Kamino;T. Ohta;Y. Jinno;N. Niikawa;T. Miki;T. Ogihara
Werner综合征（WRN）是一种常染色体隐性遗传疾病，其特征是过早衰老，已定位于8号染色体短臂8p11.2-p12。为了完善WRN区域周围的遗传图谱，我们从显微切割文库中分离出该区域的8个微卫星。我们在纯合性作图分析的基础上对日本WRN家族成员进行了分型。WRN位点与微卫星克隆MS 8 -134（D8 S1055）之间不存在专性重组。在θ = 0.00时，最大lod评分为20.28。在病例对照研究中，MS 8 -134等位基因与WRN相关（OR = 3.55，95% CI 1.56-8.07，P < 0.01）。从确定的染色体区域的微切割文库中获得的这种微卫星可能有助于WRN基因的定位克隆。
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.