扩张型心肌病与δ-肌聚糖基因突变  

Relationship between mutations of δ-sarcoglycan geneand dilated cardiomyopathy

作　　者：冯占斌[1] 马爱群[1] 吴格如[1] 李崇民 王亭忠[1] 袁博 

机构地区：[1]西安交通大学第一医院心内科,西安710061 [2]西安铁路中心医院心内科

出　　处：《陕西医学杂志》2004年第6期491-494,共4页Shaanxi Medical Journal

基　　金：卫生部科技专项项目 ( WKZ-2 0 0 0 -1 -1 3 );西安铁路分局科委资助项目 ( 2 0 0 3 -2 1 6)

摘　　要：目的 :探讨中国人扩张型心肌病患者中δ-肌聚糖 (δ- sarcoglycan,SGCD)基因的突变情况。方法 :通过聚合酶链反应 -单链构象多态性分析 ,结合 DNA测序 ,对 60例扩张型心肌病患者和 60例对照 SGCD基因的所有 9个外显子进行分析。结果 :该基因外显子 9m发现 3种类型的单链构象多态性图谱 ;DNA测序证实其中一种为正常野生型 ,另外两种为832 G/A和 848A/G突变杂合子。 832 G/A突变 ( 2 78Ala→ Thr)仅在对照组检出 1例 ,对照组 A等位基因频率 0 .0 0 8;848A/G突变 ( 2 83Gln→ Arg)共检出 5例 ,G等位基因频率在扩张型心肌病组和对照组中差异无显著性 ( P>0 .2 5 ) ,对照组 G等位基因频率 0 .0 33。结论 :发现 SGCD基因 2个新的突变位点 ;未能证实这Objective: To explore the mutation of δ-sarcoglycan gene in Chinese dilated cardiomyopathy (DCM) patients. Methods: All nine exons of δ-sarcoglycan gene were screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 60 patients with dilated cardiomyopathy and 60 control cases . Results: Three different SSCP patterns were observed on exon 9m of δ-sarcoglycan gene; The DNA direct sequencing analysis of exon 9m revealed: one of three different SSCP patterns was normal genotype, the two others were 832G/A and 848A/G heterozygous mutations. 832G/A mutation(278Ala→Thr) was only found in one case in control group, allele frequencies of A was 0.008 in control group; 848A/G mutation(283Gln→Arg) was found in five cases, there were no significant difference in allele frequencies of G between the patients with dilated cardiomyopathy and the control group(P>0.25),with allele frequencies of G being 0.033 in control group. Conclusion: Two novel mutations of δ-sarcoglycan gene were found,but there was no evidence to prove that there are associations between the two novel mutations and dilated cardiomyopathy.

关 键 词：扩张型心肌病 δ-肌聚糖 基因突变 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]