一种新型常染色体显性遗传性限制型心肌病基因座的遗传连锁
Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus.
作者信息
Zhang J, Kumar A, Kaplan L, Fricker F J, Wallace M R
出版信息
J Med Genet. 2005 Aug;42(8):663-5. doi: 10.1136/jmg.2004.030189.
BACKGROUND
In recent years, non-syndromic idiopathic cardiomyopathies have increasingly been characterised as autosomal dominant conditions caused by single gene mutations. Loci have been identified for hypertrophic and dilated cardiomyopathy, and in some cases the same loci are associated with restrictive cardiomyopathy (RCM). In a kindred with RCM that we previously reported, we ruled out the known cardiomyopathy loci and other candidate genes by linkage analysis and mutation screening.
METHODS AND RESULTS
Here we report a genome-wide analysis in this family that has resulted in linkage to a region on chromosome 10.
CONCLUSIONS
There are no genes in the interval that are known to cause idiopathic cardiomyopathy, and thus this linkage represents localisation of a new RCM locus.
背景
近年来，非综合征性特发性心肌病越来越多地被认为是由单基因突变引起的常染色体显性疾病。肥厚型和扩张型心肌病的相关基因座已被确定，在某些情况下，相同的基因座也与限制型心肌病（RCM）有关。在我们之前报道的一个患有RCM的家族中，我们通过连锁分析和突变筛查排除了已知的心肌病基因座和其他候选基因。
方法与结果
在此，我们报告了对这个家族进行的全基因组分析，结果显示与10号染色体上的一个区域存在连锁关系。
结论
该区间内不存在已知会导致特发性心肌病的基因，因此这种连锁关系代表了一个新的RCM基因座的定位。
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