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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。

相似文献

1
Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping.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
Genomics. 1995 Aug 10;28(3):566-9. doi: 10.1006/geno.1995.1189.
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A genetic analysis of the Werner syndrome region on human chromosome 8p.人类8号染色体短臂上韦尔纳综合征区域的基因分析。
Genomics. 1993 Jun;16(3):685-90. doi: 10.1006/geno.1993.1248.
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Isolation and mapping of microsatellites from a library microdissected from the Werner syndrome region, 8p11.2-p22.从8p11.2 - p22的沃纳综合征区域显微切割得到的文库中分离和定位微卫星
Jpn J Hum Genet. 1993 Dec;38(4):391-7. doi: 10.1007/BF01907985.
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Close linkage of the gene for Werner's syndrome to ANK1 and D8S87 on the short arm of chromosome 8.沃纳综合征基因与8号染色体短臂上的ANK1和D8S87紧密连锁。
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[Genetic analysis of Werner syndrome in a family].[一个家庭中维尔纳综合征的基因分析]
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Carrier detection of Werner's syndrome using a microsatellite that exhibits linkage disequilibrium with the Werner's syndrome locus.使用与沃纳综合征基因座表现出连锁不平衡的微卫星进行沃纳综合征的携带者检测。
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引用本文的文献

1
A unique human gene that spans over 230 kb in the human chromosome 8p11-12 and codes multiple family proteins sharing RNA-binding motifs.一个独特的人类基因,它跨越人类8号染色体p11 - 12区域超过230千碱基对,并编码多个具有RNA结合基序的家族蛋白。
Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10913-7. doi: 10.1073/pnas.93.20.10913.
2
Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers.通过连锁不平衡和祖先单倍型分析定位沃纳综合征基因:对35个8号染色体p11.1 - 21.1标记分析的经验教训
Am J Hum Genet. 1996 Jun;58(6):1286-302.