[中国冠心病患者MEF2A基因新突变的研究]

[Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease].

作者信息

Li Jing, Yang Jun-guo, Li Wei, Du Rong, Gui Le, Tian Li, Guo Qiu-hui

机构信息

Institute of Cardiology, Tongji Medicd College, Huazhong Science and Technology University, Human Genome Research Center of Wuhan Union Hospital, Wuhan, Hubei, 430022, PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):265-8.

PMID:16767660

Abstract

OBJECTIVE

To explore the mutations of MEF2A gene in Chinese patients with coronary artery disease(CAD).

METHODS

With polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA direct sequencing, the mutation analysis of exon 11 of MEF2A gene was performed to 156 patients with CAD and 93 normal controls.

RESULTS

By DNA sequence analyzing the samples of abnormal mobility shift of SSCP, the MEF2A gene mutations were found in three patients with CAD. One of mutations was 147130(C>A)(P431Q), and the second one was 21 bases deletion(147108-147128) which was leading to the absence of 7 amino acids (424QQQQQQQ430), and the third was 147191(G>T). Three mutations were all found in one patient, but meanwhile 21 bases deletion was found in the other two patients.

CONCLUSION

Mutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.

摘要

目的

探讨中国冠心病（CAD）患者中MEF2A基因的突变情况。

方法

采用聚合酶链反应-单链构象多态性（PCR-SSCP）及DNA直接测序技术，对156例CAD患者和93例正常对照者进行MEF2A基因第11外显子的突变分析。

结果

通过对SSCP异常迁移条带样本进行DNA序列分析，在3例CAD患者中发现了MEF2A基因突变。其中一个突变是147130（C>A）（P431Q），第二个是21个碱基缺失（147108 - 147128），导致7个氨基酸缺失（424QQQQQQQ430），第三个是147191（G>T）。三个突变均在一名患者中发现，但另外两名患者中发现了21个碱基缺失。