受磷蛋白基因突变与中国成都地区扩张型心肌病的相关性研究

目的研究扩张型心肌病(DCM)患者的肌浆网受磷蛋白(phospholamban,PLN)基因突变情况,探讨该基因与中国DCM患者发病的关系。方法采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法并结合核苷酸序列测定对89例DCM患者及110例对照组的PLN基因进行分析。结果病例组及对照组中均未发现存在异常构象,通过DNA测序未发现存在PLN基因第25核苷酸位点的C→T错义突变及116核苷酸位点的T→G突变。结论本研究未发现中国成都地区DCM患者PLN基因第25和116核苷酸位点存在突变。

Association Between Phospholamban Gene Mutation and Dilated Cardiomyopathy in the Chengdu Area

OBJECTIVE: To find out whether phospholamban (PLN) is the virulence gene of dilated cardiomyopathy (DCM) in the Chinese of Chengdu. METHODS: DNA was isolated from 89 hospitalized unrelated patients with DCM and 110 healthy Chinese Hans as controls. The PLN mutations was screened by polymerase chain reaction (PCR)-single strand conformation polymorphisms (SSCP) and nucleotide sequence analysis. RESULTS: In polyacrylamide gel lectrophoresis, no abnormal conformer was found in the two groups. In DNA sequence, no C --> T missense mutation at nucleotide 25 was identified in the DCM patients and the controls. Meanwhile, T --> G missense mutation at nucleotide 116 was not found in the affected individuals and in the controls. CONCLUSION: No PLN gene mutation was found in patients with DCM in Chengdu. This result indicated that PLN gene mutation may not be a common cause for DCM in the Chinese population in Chengdu.