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扩张型心肌病与δ-肌聚糖基因关系的研究(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2005年第2期
页码:
102-105
栏目:
基础研究
出版日期:
2005-03-05

文章信息/Info

Title:
Relationship between δsarcoglycan gene and dilated cardiomyopathy
作者:
冯占斌1; 马爱群2; 吴格如2; 李崇民1; 袁博1; 王亭忠2; 强华2
1. 西安铁路中心医院心血管内科，陕西 西安710054；2. 西安交通大学第一医院心血管内科，环境与疾病相关基因教育部重点实验室，陕西 西安 710061
Author(s):
FENG Zhanbin1; MA Aiqun2; WU Geru2; LI Chongmin1; YUAN Bo1; WANG Tingzhong2;  QIANG Hua2
1.Department of Cardiology, Xi'an Railway Centre Hospital, Xi'an, Shaanxi 710054；2.Department of Cardiology, First Hospital of Xi'an Jiaotong University , Xi'an, Shaanxi 710061
关键词:
δ-肌聚糖基因; 扩张型心肌病; 聚合酶链反应单链构象多态性; 单核苷酸多态性; 基因频率
Keywords:
δ-sarcoglycan gene;  dilated cardiomyopathy;  polymerase chain reaction single strand conformation polymorphism;  single nucleotide polymorphism; gene frequency
分类号:
R542.2
DOI:
-
文献标识码:
A
摘要:
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。
Abstract:
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.

参考文献/References

［1］ Tsubata S, Bowles KR, Vatta M, et al. Mutations in the human sarcoglycan gene in familial and sporadic dilated cardiomyopathy［J］ . J Clin Invest, 2000,106: 655-662.

［2］ Masatsugu H, Motoo D, Kinya O, et al. Singlestrand conformation polymorphism analysis on the deltasarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy［J］. Am J Cardiol, 2000,85: 1315 - 1318.

［3］ Towbin JA, Bowles NE. The failing heart［J］. Nature, 2002, 415: 227-233.

［4］ Fatkin D,Robert M. Molecular mechanisms of inherited cardiomyopathies［J］. Physiol Rev,2002, 82: 945-980.

［5］王海燕,张寄南,李汉康,等. 扩张型心肌病［A］. 马文珠,张寄南. 心肌疾病［M］. 南京:江苏科学技术出版社,2000.41-43.

［6］孙群. 扩张型心肌病162 例心电图的分析［J］. 心脏杂志，1998，10(1)：22-23.

备注/Memo

备注/Memo:
收稿日期：2004-09-18.基金项目：卫生部科技专项项目资助（WKZ2000113）；西安铁路分局科委项目资助（2003216）
更新日期/Last Update: 2010-01-05