冠心病和脑梗塞患者载脂蛋白B基因多态性研究

Polymorphism of the apolipoprotein B gene in patients with coronary heart disease and atherosclerotic cerebral infarction

观察ａｐｏ Ｂ基因３'ＶＮＴＲ多态性在北京地区汉族人群、冠心病患者及脑梗塞患者中的分布特点，进一步探讨其与血脂变量的关系。方法采用聚合酶链反应（ＰＣＲ）扩增技术，选择４３０例个体，其中冠心病组１２５例，脑梗塞组１２７例，健康对照组１７８例。结果在４３０例个体中共分离到１２个３'ＶＮＴＲ等位基因。对照组中以ＨＶＥ３２分布频率（４１．０％）最高，冠心病组及脑梗塞组中以ＨＶＥ３４分布频率最高，分别为５１．６％及５５．９％，冠心病组中串联重复拷贝数目大于等于４０的等位基因分布频率高于对照组（Ｐ＜０．０５），同时冠心病组及脑梗塞组中大于等于４２的等位基因也较对照组增多（Ｐ＜０．０５）。结论ａｐｏＢ基因３'ＶＮＴＲ大等位基因的检出可能在一定程度上为揭示ａｐｏ Ｂ基因在冠心病和脑梗塞脂质代谢中的作用提供了很好的遗传标记。

Objective To investigate the polymorphism of variable number of tandem repeats (VNTR) 3of the apolipprotein B (apo B) gene in patients with coronary heart disease (CHD) and atherosclerotic cerebralinfarctionn (ACI) in Beijing area, and evaluate the association of pelymorphism of 3' VNTR with level of bloodlipid. Methods Using the polyment chen reaction (PCR), the polymorphism of 3'VNTR was studied in 125agents with CHD and 127 patients with ACI and 178 unmatched healthy iwhviduals. Results Twelvesegregating alleies of variable number of tandemly repeated loci of the 3'flanking region were observed. The mostcommon allele was HVE32 in control group (41 .01%) and HVE34 in CHD ggroup (51.6%), ACI group (55.91%). Similarly, in CHD group and ACI group had frequency of 3'VNTR-B allele (number of repeat units≥42)was much higher than that in control group (P<0.05). Conclusion It is suggested that 3'VNTR allele might bea marker of heredity in the development of CHD and ACI presumably through their influences of lipid metabolism.