两个长QT综合征位点定位于3号和7号染色体，有证据表明存在进一步的遗传异质性。

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.

作者信息

Jiang C, Atkinson D, Towbin J A, Splawski I, Lehmann M H, Li H, Timothy K, Taggart R T, Schwartz P J, Vincent G M

机构信息

Division of Cardiology, University of Utah Health Science Center, Salt Lake City 84112.

出版信息

Nat Genet. 1994 Oct;8(2):141-7. doi: 10.1038/ng1094-141.

DOI:10.1038/ng1094-141

PMID:7842012

Abstract

Cardiac arrhythmias cause sudden death in 300,000 United States citizens every year. In this study, we describe two new loci for an inherited cardiac arrhythmia, long QT syndrome (LQT). In 1991 we reported linkage of LQT to chromosome 11p15.5. In this study we demonstrate further linkage to D7S483 in nine families with a combined lod score of 19.41 and to D3S1100 in three families with a combined score of 6.72. These findings localize major LQT genes to chromosomes 7q35-36 and 3p21-24, respectively. Linkage to any known locus was excluded in three families indicating that additional heterogeneity exists. Proteins encoded by different LQT genes may interact to modulate cardiac repolarization and arrhythmia risk.

摘要

心律失常每年导致30万美国公民猝死。在本研究中，我们描述了遗传性心律失常——长QT综合征（LQT）的两个新基因座。1991年，我们报告了LQT与11号染色体p15.5的连锁关系。在本研究中，我们在9个家系中进一步证明了与D7S483的连锁关系，合并对数计分（lod score）为19.41，在3个家系中证明了与D3S1100的连锁关系，合并对数计分为6.72。这些发现分别将主要的LQT基因定位到7号染色体q35 - 36和3号染色体p21 - 24。在3个家系中排除了与任何已知基因座的连锁关系，表明存在其他遗传异质性。不同LQT基因编码的蛋白质可能相互作用，调节心脏复极化和心律失常风险。