MAPPING OF A NOVEL GENE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TO CHROMOSOME-11

被引：174

作者：

CARRIER, L

HENGSTENBERG, C

BECKMANN, JS

GUICHENEY, P

DUFOUR, C

BERCOVICI, J

DAUSSE, E

BEREBBIBERTRAND, I

WISNEWSKY, C

PULVENIS, D

FETLER, L

VIGNAL, A

WEISSENBACH, J

HILLAIRE, D

FEINGOLD, J

BOUHOUR, JB

HAGEGE, A

DESNOS, M

ISNARD, R

DUBOURG, O

KOMAJDA, M

SCHWARTZ, K

机构：

[1] CEPH,PARIS,FRANCE

[2] HOP PITRE SALPETRIERE,SOC FRANCAISE CARDIOL,MYOCARDIOPATHIES GRP,F-75013 PARIS,FRANCE

[3] AFM,GENETHON,EVRY,FRANCE

[4] INST PASTEUR,CNRS,URA 1445,F-75724 PARIS 15,FRANCE

[5] INSERM,U155,F-75005 PARIS,FRANCE

来源：

NATURE GENETICS | 1993年 / 4卷 / 03期

关键词：

D O I：

10.1038/ng0793-311

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：311 / 313

页数：3

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