[成都人群中TNNT2基因突变与特发性扩张型心肌病的关联]
[Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].
作者信息
Chen Bin, Rao Li, Zhou Bin, Liu Xing, Hang Ping, Wu Yang, Peng Ying, Chen Yu
机构信息
Department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, China.
出版信息
Sichuan Da Xue Xue Bao Yi Xue Ban. 2008 Nov;39(6):969-72.
OBJECTIVE
To determine whether cardiac troponin T gene (TNNT2, AY044273) is the virulence gene of idiopathic dilated cardiomyopathy (IDCM) in a Chengdu population.
METHODS
DNA were isolated from 96 hospitalized unrelated patients with IDCM and 110 healthy Chinese Han people who served as controls. The TNNT2 mutations including Arg131Trp, Arg141Trp, Arg205Leu, deltaLys210 and Asp270Asn were screened by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP) and nucleotide sequence analysis.
RESULTS
No mutation (Arg141Trp, Arg131Trp, Arg205Leu, deltaLys210, Asp270Asn) in TNNT2 was found in either the IDCM patients or the healthy people. The G9005C and C13350T polymorphism of the TNNT2 appeared in both the IDCM patients and the healthy people.
CONCLUSION
The IDCM patients in Chengdu have no TNNT2 mutation. Two polymorphisms, G9005C and C13350T, are identified, which are not associated with IDCM.
目的
确定心脏肌钙蛋白T基因（TNNT2，AY044273）是否为成都地区特发性扩张型心肌病（IDCM）的致病基因。
方法
从96例住院的非亲缘关系的IDCM患者及110名健康汉族人（作为对照）中提取DNA。采用聚合酶链反应-单链构象多态性（PCR-SSCP）及核苷酸序列分析技术筛查TNNT2基因的突变，包括Arg131Trp、Arg141Trp、Arg205Leu、deltaLys210和Asp270Asn。
结果
在IDCM患者和健康人群中均未发现TNNT2基因的突变（Arg141Trp、Arg131Trp、Arg205Leu、deltaLys210、Asp270Asn）。TNNT2基因的G9005C和C13350T多态性在IDCM患者和健康人群中均有出现。
结论
成都地区的IDCM患者不存在TNNT2基因突变。已鉴定出两种多态性，即G9005C和C13350T，它们与IDCM无关。
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