内蒙古蒙古族人群血管紧张素Ⅰ转换酶(ACE)基因多态性分析

目的：观察血管紧张素I转换酶(ACE)基因第16内含子插入／缺失多态性在内蒙古地区蒙古族人群中的分布。方法：采用聚合酶连锁反应(PCR)检测150例内蒙古地区蒙古族标本ACE基因16内含子插入／缺失多态标记，得到三种基因型：缺失纯合子(DD)、插入纯合子(I型)及插入／缺失杂合子(DI型)。并对所有普通PCR定为DD型的样本进行插入特异性PCR检测，以减少误分型率。统计各基因型频率，计算等位基因频率。结果：内蒙古地区蒙古族ACE基因三种基因型频率分别为：DD型20．0％，DI型41．3％，I型38．7％；D、I两等位基因频率为40．7％和59．3％．结论：蒙古族与汉族资料比较，等位基因频率差异均无显著性，基因型频率与多数资料差异无显著性；蒙古族等位基因频率及基因型频率与鄂温克族、达斡尔族、白种人及黑种人差异均存在显著性。ACE基因多态性存在人种的差别，而是否不同民族、地区间也存在差别尚待进一步研究。

The Analysis of Aangiotensin Ⅰ-converting Enzyme(ACE) Genes Polymorphism in the Mongolia Nationality in Inner Mongolia

Objective:The aim of this study is to observe the distribution of the I/ D polymorphism of an- giotensin1- converting enzyme gene16 intron in the Mongolian population in Inner Mongolia.Methods:An insertion/ deletion(I/ D) polymorphism of the ACE Igene is detected by polymerase chain reaction (PCR) in 15 0 healthy subjects of Mongolin nationality.Our experiment displays three kinds of ACE genotypes:homozygotes of deletion(DD) ,homozygotes of insertion( ) ,and heterozygotes of insertion and deletion(DI) .In order to re- duce the frequency of mistype,all samples of DD which are typed by the common PCR are retyped by insertion specific PCR.Results:Among the Mongolian people,the distribution of frequency of ACE I/ D genotypes is 2 0 % (DD) ,4 1.3% (DI) ,and38.7% ( ) ,respectively.The frequency of allele is4 0 .7% for D,5 9.3% for I. Conclusion:There is no significant difference in the frequency of allele and genotypes among the Mongolian and the Han.A dramatic difference lies among the Mongolian,Dahur,Ewenk,Caucasians,and African Americans. The polymorphism of ACE gene is related to the race,butit needs more research to identify whetherit is related to the ethnic and areal groups.