蒙古族人群载脂蛋白(a)五核苷酸重复序列基因多态性与冠心病发生的相关性研究  

CORRELATION STUDY OF PENTANUCLEOTIDE REPEAT POLYMORPHISM OF APOLIPROTEIN( A) GENE AND MONGOLIAN CORONARY HEART DISEASE

作　　者：周静[1] 莫殿军[2] 孙文阁[1] 牛丽丽[1] 

机构地区：[1]赤峰学院医学院,内蒙古赤峰市024000 [2]赤峰学院第一附属医院检验科

出　　处：《内蒙古医科大学学报》2014年第3期226-229,234,共5页Journal of Inner Mongolia Medical University

基　　金：内蒙古自治区高等学校科学研究项目(NJ10243);内蒙古自治区自然科学基金项目(2010MS1115)

摘　　要：目的:研究载脂蛋白(a)5'调控区(TTTTA)n五核苷酸重复序列(PNR)基因多态性在内蒙古地区蒙古族健康人群及冠心病(CHD)病人中的分布特点。方法:采用PCR-聚丙烯酰胺凝胶电泳方法检测66例蒙古族健康人群及71例蒙古族冠心病病人的apo(a)的PNR基因多态性。结果:冠心病病人血浆Lp(a)、TG水平高于正常对照组,而HDL-C水平则低于正常对照组;冠心病病人组检测出(TTTTA)序列重复次数为5、8、9共3种等位基因,并检测出5/8、5/9、8/8、8/9、9/9共5种基因型。正常对照组检测出(TTTTA)序列重复次数为5、7、8、9共4种等位基因,检测出5/8、5/5、7/9、8/8、8/9、9/9共6种基因型。两组人群均以重复次数为8和基因型8/8分布频率最高;冠心病病人与正常对照apo(a)PNR比较发现各等位基因及基因型频率间均无显著性差异;冠心病病人基因型8/8与8/9间的血浆脂蛋白(a)水平比较无显著性差异。结论:蒙古族人群apo(a)PNR基因多态性可能与冠心病发生的不存在直接的相关性。Objective： To investigate the relationship between pentanucleotide repeat （PNR） polymorphism of apolipoprotein（a） gene and Mongolian coronary heart disease （CHD）. Methods：PNR polymorphism of the apo（a） gene from 66 controls and 71 patients of CHD were analyzed by polymerase chain reaction （PCR） - polyaerylamide gel eleetrophoresis- silver stain. Results： The concentrations of Lp（a） ,TG in CHD patients were elevated in comparison with that in normal subjects, however, HDL-C was decreased;There were 3 alleles, which were 5,8 and 9 repeats in CHD patients. Moreover, we detected 5 apo （a） PNR genetypes, which were 5/8,5/9,8/8,8/9,9/9 In control group,4 alleles were detected, namely,5,7,8,9. At the same time, we found 6 genetypes, they were 5/8,5/5,7/9,8/8,8/ 9,9/9. Among them, 8 repeats and genetypes 8/8 were the most frequency distributions ; The frequency of apo（a） PNR alleles and genetypes had no significant difference between CHD patients and controls.Conclusion： Apo（a） PNR polymorphism had no direct relationship with CHD in Mongolian.

关 键 词：载脂蛋白(a) 五核苷酸重复序列 蒙古族 冠心病 脂蛋白(a) 

分 类 号：R541.4[医药卫生—心血管疾病]