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目的探讨转化生长因子β1(TGF-β1)基因第1外显子区SNP+869(T/C)和SNP+915(G/C)多态性在宁夏回族、汉族人群中的分布特征。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对210例回族和308例汉族人群转化生长因子β1第1外显子区(+869位点、+915位点)两个多态性位点进行检测。结果宁夏回族群体TGF-β1基因第1外显子区两个多态性位点各基因型频率及等位基因频率分别为:+869(TT:25.24%;CT:52.38%;CC:22.38%;T:51.43%;C:48.57%);+915(GG:98.10%;GC:1.90%;CC:0%;G:99.04%;C:0.96%);宁夏汉族群体TGF-β1基因第1外显子区两个多态性位点各基因型频率及等位基因频率分别为:+869(TT:30.52%;CT:48.05%;CC:21.43%;T:54.55%;C:45.45%);+915(GG:99.03%;GC:0.97%;CC:0%;G:99.51%;C:0.49%),两组间无差异。按性别分组,亦无差异。结论 TGF-β1基因第1外显子区+869、+915两个多态性位点在宁夏回、汉族人群及不同性别间无差异。
Objective To investigate the distribution of SNP + 869 (T / C) and SNP + 915 (G / C) polymorphisms in exon 1 of transforming growth factor β1 (TGF-β1) gene in Hui and Han populations in Ningxia. Methods 210 cases of Hui population and 308 Han population were enrolled in the first exon of growth factor β1 (+869 locus, +915 loci) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Two polymorphic sites were tested. Results The frequencies of genotypes and alleles of the two exon 1 polymorphisms of TGF-β1 gene in Ningxia Hui Autonomous Region were +869 (TT: 25.24%, CT: 52.38%, CC: 22.38% ; T: 51.43%; C: 48.57%); +915 (GG: 98.10%; GC: 1.90%; CC: 0%; G: 99.04%; C: 0.96% The genotype frequency and allele frequency of two polymorphic sites in exon were +869 (TT: 30.52%, CT: 48.05%, CC: 21.43%, T: 54.55%, C: 45.45% ); +915 (GG: 99.03%; GC: 0.97%; CC: 0%; G: 99.51%; C: 0.49%). There was no difference between the two groups. By gender, there is no difference. Conclusion There are no differences in the polymorphisms of + 869 and + 915 in exon 1 of TGF-β1 gene between Ningxia Hui population, Han population and different genders.