中国特发性扩张型心肌病患者与δ-肌聚糖基因的相关性研究  

The Correlation Investigation between δ-Sarcoglycan Gene and Idiopathic Dilated Cardiomyopathy

作　　者：陈航[1] 饶莉[2] 闫亚非[1] 徐俊波[1] 陈守春 刘童[1] 

机构地区：[1]成都市第一人民医院心内科,610016 [2]四川大学华西医院 [3]成都地奥制药公司新药部基金组

出　　处：《中国分子心脏病学杂志》2005年第2期471-474,共4页Molecular Cardiology of China

基　　金：成都市卫生局青年科技基金(批准号:2001200201)

摘　　要：目的探讨中国特发性扩张型心肌病是否与δ肌聚糖基因(SGCD)的突变相关。方法用人工合成的寡核苷酸引物,通过聚合酶链反应(PCR)—单链构象多态性分析(SSCP)DNA测序法对70名特发性心肌病患者和70例健康对照SGCD基因的全部9个外显子进行分析。结果在病例组和对照组外显子2,3,6,9m,9p的单链构象多态性图谱均呈相同形态,DNA测序发现两组的核苷酸序列没有差异;经反复改变电泳条件仍未能分离出外显子4,5,7,8的SSCP电泳条带。结论未证实δ肌聚糖基因(SGCD)是特发性心肌病患者的致病基因。Objective To analyze wheather the mutation of δ-sarcoglycan gene （SG） is associated with the idiopathic dilated cardiomyopathy （DCM） in Chinese population. Methods Polymerase chain reaction（PCR） single-strand conformation polymorphism （SSCP） and nucleotide sequence analysis were performed on the δ-SG in 70 Chinese patients with DCM and 70 control cases. SSCP was detected in all 9 exons of the gene. Results In polyacrylamide gel electrophoresis , there were no abnormal conformers in beth patients with DCM and control cases, and no differences were found in the DNA sequence of exon 2,3,6,9m and 9p between the two groups. The SSCP patterns of exon 4, 5, 7, 8 can＇ t be isolated even though the electrophoretic conditions have been changed repeatedly. Conclution No novel mutations of δ-Sarcoglycan gene were found between the two groups. δ-SG may not associated with DCM in the Chinese population.

关 键 词：δ-肌聚糖 扩张型心肌病 聚合酶链反应 单链构象多态性分析 

分 类 号：R542.2[医药卫生—心血管疾病] R979.14[医药卫生—内科学]