中国人群血管紧张素转换酶基因与血管紧张素Ⅱ-1型受体基因A^(1166)-C单核苷酸多态性分析

Distribution of polymorphism of angiotensin converting enzyme gene and A~ (1166)-C single nucleotide polymorphism of angiotensin Ⅱ type 1 receptor gene in normal Chinese

目的 研究血管紧张素转换酶 (ACE)基因Alu插入 (Ⅰ ) /缺失 (D)多态性与血管紧张素Ⅱ 1型受体 (AT1R)基因A1166 C单核苷酸多态性 (SNP )在中国人群中的分布状态。方法 采用聚合酶链反应 (PCR)及PCR 限制性片段长度多态性 (PCR RFLP)方法对中国人群ACE基因AluⅠ /D多态性和AT1R基因A1166 CSNP频率进行分析比较。结果 中国人群的ACE基因各基因型频率Ⅱ型37 0 % ,ID型 40 5 % ,DD型 2 2 5 % ;I,D各等位基因型频率分别为 5 7 3 % ,42 7%。AT1R基因A1166 CSNP频率分布 :AA型 76 5 % ,AC型 2 3 4% ,CC型 0 1% ;等位基因频率A 88 2 % ,C型 11 8%。结论中国人群ACE基因AluI/D与AT1R基因A1166 C的SNP频率的分布有明显的种族差异。

Objective To observe the distribution of Alu I/D polymorphism of angiotensin converting enzyme(ACE) gene and A 1166-C single nucleotide polymorphism (SNP) of angiotensin Ⅱ type 1 receptor (AT 1R) gene in normal Chinese population. Methods The frequency of ACE genotype and A 1166-C SNP of AT 1R genotype were detected by using PCR-RFLP in normal Chinese people. Results In normal people of China ACE genotype the frequency of Ⅱ was 37。0%,ID was 40。5%,DD was 22。5%, The allele gene frequency of I was 57。3%,D was 42。7%;A 1166-C SNP of AT 1R genotype frequency of AA was 76。5%,AC was 23。4%, CC was 0。1%。The allele gene frequency of A was 88。2%, C was 11。8%。 Conclusion The frequency of ACE gene I/D Polymorphism and AT 1R gene A 1166-C SNP were varied significantly among different races and people。