扩张型心肌病与δ-肌聚糖基因关系的研究

Relationship between δ-sarcoglycan gene and dilated cardiomyopathy

目的探讨中国人扩张型心肌病患者中δ肌聚糖基因的突变情况。方法通过聚合酶链反应单链构象多态性分析,结合脱氧核糖核酸测序,对扩张型心肌病患者60例和对照者60例进行δ肌聚糖基因所有9个外显子的分析。结果该基因外显子3发现3种类型单链构象多态性图谱;脱氧核糖核酸测序证实为T84C单核苷酸多态性,所编码氨基酸未发生改变;其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>0.05);但在亚组分析中,扩张型心肌病伴传导阻滞亚组T等位基因频率显著高于对照组(P<0.01)。结论中国人群中存在δ肌聚糖基因T84C单核苷酸多态性;该多态性T等位基因是扩张型心肌病伴传导阻滞的易患基因或与心脏传导系统疾病有关。

AIM: To study 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 controls. RESULTS: Three different SSCP patterns were observed on exon 3 of δ-sarcoglycan gene. The DNA direct sequencing analysis of exon 3 revealed a single nucleotide polymorphism(T84C) with no amino acid alteration. There were no significant difference in allele frequencies of T/C between the patients with dilated cardiomyopathy and the controls(P>0.05). Nevertheless allele T was significantly more frequent in the subgroup of DCM with conduction block than in the control (P<0.01).CONCLUSION: In the Chinese, the single nucleotide polymorphism(T84C) of δ-sarcoglycan gene has also been found and the allele T of this single nucleotide polymorphism is a predisposing gene to DCM with conduction block, or has relationship with cardial conduction system disease.