目的：研究载脂蛋白(a)5忆调控区(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.
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