湖北地区汉族人群甘露糖结合凝集素基因多态性与冠心病易感性关系研究  

The study on the relationship between genotype polymorphism of mannose-binding lection and susceptibility to coronary artery disease in the subjects of Han nationality of Hubei province

作　　者：谷翔[1] 郭小梅[1] 王嵬 黄亚非[3] 吴雄文[3] 

机构地区：[1]华中科技大学同济医学院附属同济医院心内科,武汉430030 [2]澳大利亚Edith Cowan大学人类遗传中心 [3]华中科技大学同济医学院免疫教研室

出　　处：《临床心血管病杂志》2005年第7期423-426,共4页Journal of Clinical Cardiology

基　　金：同济-EdithCowan大学合作项目;获湖北省科委15攻关项目资助(No:2002AA301C58)

摘　　要：目的探讨湖北地区汉族人群甘露糖结合凝集素(MBL)基因外显子1区多态性的特点及其与冠心病易感性的关系。方法应用多聚酶链反应异源双链杂交技术(PCRUHG)检测145例湖北地区汉族人(健康对照组79例,冠心病组66例)的MBL外显子1区基因型,分析两组间突变基因型频率的差异。结果①B等位基因是湖北地区汉族人群MBL基因外显子1区的主要变异体,其突变位点位于54位密码子(GGC→GAC),未检出C、D变异体。②健康对照组与冠心病组MBL突变等位基因(B等位基因)频率分别为12.0%和12.9%,两者差异无统计学意义。③急性冠状动脉综合征亚组与健康对照组突变型等位基因分别为15.9%和12.0%,差异无统计学意义。结论MBL基因突变可能不是湖北地区汉族人群冠心病发病的遗传学危险因素。Objective:To determine the relationship between genetic polymorphism of mannose-binding lectin (MBL) and susceptibility to coronary heart disease (CHD) in the subject of Han nationality in Hubei province. Method:The technique of PCR-Universal heteroduplex generation(PCR-UHG)was applied to detect the genetic polymorphism of MBL, we examined DNA from 66 patients with CHD and 79 healthy individuals. The relationship between genetic polymorphism of MBL and susceptibility to CHD was analysed. Result:①Allele B is the main variant leading to polymorphism within exon 1 of MBL gene in Hubei, the spot of mutation is located on codon 54(GGC→GAC),allele C and D were not found. ②There is no difference in the frequencies of variant alleles between control group (12.0%) and CHD group (12.9%).③The frequencies of variant alleles in acute coronary syndrome (ACS) group (15.9%) did not significantly differ from that of control group (12.0%).Conclusion:Mutation of MBL may not be genetic risk factor leading to CHD in Hubei Han nationality.

关 键 词：冠状动脉疾病 甘露糖结合凝集素 基因多态性 

分 类 号：R541.1[医药卫生—心血管疾病]