作者
Martin Jung, Imke Poepping, Andreas Perrot, Annette E Ellmer, Thomas F Wienker, Rainer Dietz, André Reis, Karl Josef Osterziel
发表日期
1999/10/1
期刊
The American Journal of Human Genetics
卷号
65
期号
4
页码范围
1068-1077
出版商
Elsevier
简介
Dilated cardiomyopathy (DCM) is a leading cause of heart failure and the most frequent indication for heart transplantation in young patients. Probably >25% of DCM cases are of familial etiology. We report here genetic localization in a three-generation German family with 12 affected individuals with autosomal dominant familial DCM characterized by ventricular dilatation, impaired systolic function, and conduction disease. After exclusion of known DCM loci, we performed a whole-genome screen and detected linkage of DCM to chromosome 2q14-q22. Investigation of only affected individuals defines a 24-cM interval between markers D2S2224 and D2S2324; when unaffected individuals are also included, the critical region decreases to 11 cM between markers D2S2224 and D2S112, with a peak LOD score of 3.73 at recombination fraction 0 at D2S2339. The identification of an additional locus for familial …
引用总数
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