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家族性肥厚型心肌病一个新基因定位于11号染色体

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.

作者信息

Carrier L, Hengstenberg C, Beckmann J S, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D

机构信息

INSERM U127, Hôpital Lariboisière, Paris, France.

出版信息

Nat Genet. 1993 Jul;4(3):311-3. doi: 10.1038/ng0793-311.

Abstract

Familial hypertrophic cardiomyopathy (FHC) is a cardiac disorder transmitted as an autosomal dominant trait. FHC has been shown to be genetically heterogeneous with less than 50% of published pedigrees being associated with mutations in the beta myosin heavy chain (beta-MHC) gene on chromosome 14q11-q12. A second locus has recently been reported on chromosome 1. We examined the segregation of microsatellite markers in a French pedigree for which the disease is not linked to beta-MHC gene. We found significant linkage of the disease locus to several (CA)n repeats located on chromosome 11 (lod scores between +3.3 and +4.98). The data suggest the localization of the novel FHC gene in a region spanning 17 centiMorgans.

摘要

家族性肥厚型心肌病(FHC)是一种以常染色体显性特征遗传的心脏疾病。FHC已被证明具有遗传异质性,已发表的系谱中不到50%与14q11 - q12染色体上的β肌球蛋白重链(β - MHC)基因突变有关。最近在1号染色体上报道了第二个基因座。我们研究了一个法国系谱中的微卫星标记分离情况,该系谱中的疾病与β - MHC基因不连锁。我们发现疾病基因座与位于11号染色体上的几个(CA)n重复序列有显著连锁(对数优势分数在+3.3和+4.98之间)。数据表明新的FHC基因定位于一个跨度为17厘摩的区域。

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