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目的研究中国风湿性疾病患者群中MDR1 C3435T、RFC1 G80A、GGH C-401T、FPGS(rs1544105)G>A、MTHFR C677T和MTHFR A1298C基因型的分布,并与北京汉族健康人群及其他种族的基因频率进行比较,明确种族差异。方法用PCRRFLP的方法检测分析MDR1 3435、RFC1 80、GGH-401、FPGS(rs 1544105)、MTHFR 677和MTHFR 1298五个基因6个位点在中国风湿患者群中的分布情况,并验证是否符合Hardy-Weinberg平衡,同时和北京健康汉族人群及其他种族基因突变频率与等位基因频率的分布进行比较。结果 6个位点等位基因频率如下:MDR1 3435C 64%,MDR1 3435T 36%;RFC1 80G 51%,RFC180A 49%;GGH-401C 81%,GGH-401T 19%;FPGS(rs1544105)G 26%,FPGS(rs1544105)A 74%;MTHFR 677C 73%,MTHFR677T 27%;MTHFR 1298A 79%,MTHFR 1298C 21%。各个基因型频率都符合Hardy-Weinberg平衡。结论除了MTHFR 677的突变频率较低外,本研究风湿患者群中的各基因频率与已报道的北京健康志愿者基因频率相似。各基因频率与其他种族间存在种族差异。
Objective To investigate the distribution of MDR1 C3435T, RFC1 G80A, GGH C-401T, FPGS (rs1544105) G> A, MTHFR C677T and MTHFR A1298C genotypes in Chinese patients with rheumatic diseases and to study the relationship between the genotypes of healthy Han population and other races in Beijing Compare and define racial differences. Methods PCRRFLP method was used to detect the distribution of six loci in five Chinese rheumatoid patients including MDR1 3435, RFC180, GGH-401, FPGS (rs1544105), MTHFR677 and MTHFR1298, and to verify whether it conforms to Hardy Weinberg balance, and at the same time and Beijing healthy Han population and other racial gene mutation frequency and allele frequency distribution comparison. Results The frequencies of six alleles were as follows: MDR1 3435C 64%, MDR1 3435T 36%, RFC1 80G 51%, RFC180A 49%, GGH-401C 81%, GGH-401T 19%, FPGS rs1544105 G 26% FPGS (rs1544105) A 74%; MTHFR 677C 73%, MTHFR677T 27%; MTHFR 1298A 79%, MTHFR 1298C 21%. The frequency of each genotype is in line with the Hardy-Weinberg equilibrium. Conclusions Except for the low mutation frequency of MTHFR 677, the frequency of each gene in the rheumatoid patient population in this study is similar to that reported in Beijing healthy volunteers. Racial differences between genetic frequencies and other races.