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[一个日本长QT综合征家族的连锁分析]

[Linkage analysis in a Japanese long QT syndrome family].

作者信息

Akimoto K, Matsuoka R, Kasanuki H, Takao A, Monma K, Hayakawa K, Hosoda S

机构信息

Department of Pediatric Cardiology, Tokyo Women's Medical College.

出版信息

Kokyu To Junkan. 1993 May;41(5):463-5.

PMID:8484055
Abstract

Romano-Ward syndrome is an autosomal dominant trait disease, which is characterized by QT prolongation and normal hearings and shows predisposal to sudden death from cardiac arrhythmia. Recently, Keating et al. reported that Harvey ras-1 locus (H-ras-1) was closely linked to long QT syndrome (LQTS), being located on the short arm of chromosome 11. In this study we have examined a three-generation Japanese family whose members had recurrent fainting with prolongation of the QT interval on electrocardiogram. Using the H-ras-1 probe as DNA marker, we could not determine that the H-ras-1 gene was linked to LQTS. LQTS seems to be a genetically heterogeneous disease. Further study is needed to clarify the chromosomal location of the LQTS.

摘要

Romano-Ward综合征是一种常染色体显性遗传病,其特征为QT间期延长且听力正常,易因心律失常而猝死。最近,基廷等人报告称,哈维ras-1位点(H-ras-1)与长QT综合征(LQTS)密切相关,位于11号染色体短臂上。在本研究中,我们调查了一个三代日本家族,其成员反复出现晕厥,心电图显示QT间期延长。使用H-ras-1探针作为DNA标记,我们无法确定H-ras-1基因与LQTS相关。LQTS似乎是一种遗传异质性疾病。需要进一步研究以明确LQTS的染色体定位。

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