将一种心肌病基因座定位于3号染色体p22 - p25区域。
Mapping a cardiomyopathy locus to chromosome 3p22-p25.
作者信息
Olson T M, Keating M T
机构信息
Division of Pediatric Cardiology, Primary Children's Medical Center, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
出版信息
J Clin Invest. 1996 Jan 15;97(2):528-32. doi: 10.1172/JCI118445.
Abstract
Dilated cardiomyopathy (DCM) is a common disorder characterized by cardiac dilation and reduced systolic function. To identify a cardiomyopathy gene, we studied a family with DCM associated with sinus node dysfunction, supraventricular tachyarrhythmias, conduction delay, and stroke. A general linkage approach was used to localize the disease gene in this family. Linkage to D3S2303 was identified with a two-point lod score of 6.09 at a recombination fraction of 0.00. Haplotype analyses mapped this locus to a 30 cM region of chromosome 3p22-p25, excluding candidate genes encoding a G-protein (GNAI2), calcium channel (CACNL1A2), sodium channel (SCN5A), and inositol triphosphate receptor (ITPR1). These data indicate that a gene causing DCM associated with rhythm and conduction abnormalities is located on chromosome 3p, and represent the first step toward disease gene identification.
摘要
扩张型心肌病（DCM）是一种常见的疾病，其特征为心脏扩张和收缩功能降低。为了鉴定一种心肌病基因，我们研究了一个患有DCM且伴有窦房结功能障碍、室上性快速心律失常、传导延迟和中风的家系。采用一般连锁分析方法在该家系中定位疾病基因。在重组率为0.00时，与D3S2303的连锁分析得到两点连锁对数记分6.09。单倍型分析将该基因座定位到3号染色体p22 - p25的30 cM区域，排除了编码G蛋白（GNAI2）、钙通道（CACNL1A2）、钠通道（SCN5A）和三磷酸肌醇受体（ITPR1）的候选基因。这些数据表明，一个导致与节律和传导异常相关的DCM的基因位于3号染色体p上，这是疾病基因鉴定的第一步。
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