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) － polyacrylamide gel electrophoresis － 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．

R541． 4

 收稿日期:2013 － 12 － 20;修回日期:2014 － 04 － 10
基金项目: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)
作者简介:周静(1980 － )，女，赤峰学院医学院讲师，医学硕士。