CYP11A1基因单核苷酸多态性在宁夏回、汉族人群中的分布特征

目的 了解宁夏人群中CYP11A1基因rs16968477、rs1843090、rs4077582、rs9806234和rs12438594位点遗传多态的分布情况,并分析该位点在不同种族间的分布差异.方法 研究对象为宁夏医科大学体检健康学生559例,其中回族273例,汉族286例.单核苷酸多态性采用TaqMan Gene Typing技术检测.结果 宁夏回、汉族人群CYP11A1基因多态位点等位基因频率分别为rs16968477(C/T:64.47％/35.53％;68.53％/31.47％);rs1843090(A/G:46.15％/53.85％;43.53％/56.47％);rs4077582(C/T:56.78％/43.22％;55.24％/44.76％);rs9806234(A/G:32.78％/67.22％;38.99％/61.01％);rs12438594(A/G:47.44％/52.56％;42.48％/57.52％).宁夏人群各多态性基因型总体分布与HAPMAP结果比较,rs16968477、rs9806234位点与欧洲人群和非洲人群不同(P=0.017、0.001、0.000、0.000);rs1843090位点与欧洲人群、日本人群和非洲人群不同(P=0.000、0.011、0.000);rs4077582、rs12438594位点与欧洲人群不同(P=0.000、0.000).结论 CYP11A1基因5个单核苷酸多态性在宁夏回、汉族之间差异无统计学意义;5位点的基因型总体分布在种族和地区间差异具有统计学意义.

Characteristics of the distribution of SNPs of the CYP11A1 gene in the Hui and Han ethnic groups in Ningxia

Objective To investigate the distribution characteristics of five single nucleotide polymorphism (SNP) loci (rs16968477,rs1843090,rs4077582,rs9806234 and rs12438594) in CYP11A1 gene in Ningxia population and to analyze the distribution of the SNPs among different ethnic groups.Methods All 559 subjects were students from Ningxia Medical University,including 273 cases of Hui and 286 cases of Han.The genotypes were examined by using Taqman Gene Typing method.Results The allele frequencies of the SNPs in Hui and Han ethnic groups were rs16968477 (C/T:64.47％/35.53％;68.53％/31.47％),rs1843090 (A/G:46.15％/53.85％;43.53％/ 56.47％),rs4077582 (C/T:56.78％/43.22％;55.24％/44.76％),rs9806234 (A/G:32.78％/67.22％;38.99％/61.01％) and rs12438594 (A/G:47.44％/52.56％;42.4％/57.52％).Compared with the results from HAPMAP,the distribution of rs16968477 and rs9806234 in Ningxia was different from that in Europe and Africa (P =0.017,0.001,0.000,0.000);the distribution of rs1843090 in Ningxia differed from that in Europe,Japan and Africa (P =0.000,0.011,0.000);the distribution of rs4077582 and rs12438594 in Ningxia was different from that in Europe (P =0.000,0.000).Conclusion We did not find significant difference between the Hui and Han ethnic groups of Ningxia population in the five SNPs (P ＞ 0.05).However,genotype distributionsof the SNPs were significantly different among people from different regions.