新疆维吾尔族、汉族健康人群血清淀粉样蛋白A1基因多态性分布特征

摘要

目的 探讨血清淀粉样蛋白A1(serum amyloid protein A1,SAA1)基因标签单核苷酸多态(tagging single nucleotide polymorphism,tagSNP)rs2229338和rs12218在新疆维吾尔族和汉族健康人群中的分布特征.方法 入选新疆地区维吾尔族(n=316)和汉族(n=362)健康人群,采用限制性片段长度多态性的方法进行基因分型.结果 (1)rs2229338三种基因型在维吾尔族人群中的分布频率分别为:AA型76.6%,AG型23.4%,GG型0;在汉族人群中的分布频率分别为:AA型91.7%,AG型7.7%,GG型0.6%.两组基因型分布差异有统计学意义(P＜0.01);(2)rs12218三种基因型在维吾尔族人群中的分布频率分别为:CC型10.1%,CT型47.5%,TT型42.4%;在汉族人群中的分布频率分别为:CC型3.3%,CT型34.3%,TT型62.4%.两组基因型分布差异有统计学意义(P＜0.01);(3)rs12216和rs2229338共构建4个单倍型,其中A-C和G-T单倍型在维吾族中的分布明显高于汉族(P＜0.01),A-T单倍型在汉族中的分布明显高于维吾尔族(P＜0.01).结论 SAA1基因标签SNP在新疆汉族和维吾尔族健康人群中的分布具有明显的差异,维族人群突变频率可能高于汉族人群.%Objective To investigate the genetic polymorphisms of rs2229338 and rs12218 loci of serum amyloid protein A1 (SAA1) gene in healthy Chinese Han and Uighur populations of Xinjiang.Methods The genotypes of the SAA1 gene were detected in 316 Uighur and 362 Han healthy individuals by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results The genotype distributions of both populations were in the Hardy-Weinberg equilibrium (both P＞0. 05). The frequencies of AA, AG and GG genotypes of the rs2229338 locus were 76. 6%, 23.4%, and 0 in the Uighurs, and 91.7%, 7.7% and 0.6% in the Hans. There was significant difference in distribution of genotypes between the two populations (P＜0.01). The frequencies of CC, CT and TT genotypes of the rs12218 locus were 10.1%, 47.5%, and 42. 4% in Uighurs, and 3.3%, 34. 3% and 62.4% in Hans.There was also significant difference in distribution of genotypes between the two populations (P＜0.01).The A-C and G-T haplotypes were more frequent in the Uighur but the A-T haplotype was more common in the Han population, respectively (both P＜0.01). Conclusion The mutational frequencies of the tagging SNPs in rs2229338 and rs12218 loci of the SAA1 gene in the Uighurs may be higher than those in Hans.