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目的比较陵水黎族自治县汉族与黎族女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G基因多态性的分布情况,以获取当地区多态性位点的群体遗传学特征。方法以陵水黎族自治县1 275例汉族女性和566例黎族女性为研究对象,采集口腔黏膜上皮细胞,提取基因组DNA,通过荧光PCR方法进行MTHFR和MTRR基因多态性检测。比较本地区汉族女性和黎族女性基因多态性的分布特征。结果陵水黎族自治县汉族女性MTHFR C677T纯合突变基因TT频率(4.7%)明显高于黎族女性(2.5%),该SNP(单核苷酸多态性)位点在两民族女性中的分布差异具有统计学意义。而MTHFR A1298C和MTRR A66G两SNP位点分布差异无统计学意义。结论陵水黎族自治县汉族女性和黎族女性MTHFR基因多态性分布存在差异。
Objective To compare the distribution of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G between Han and Li nationality in Lingshui Li Autonomous County, Population genetic characteristics of the loci. Methods A total of 1 275 Han women and 566 Li women from Li ethnic Autonomous County of Lingshui were enrolled in this study. Oral mucosal epithelial cells were collected and genomic DNA was extracted. MTHFR and MTRR gene polymorphisms were detected by fluorescence PCR. Comparison of distribution characteristics of Han nationality women and Li nationality female genotypes in this area. Results The TT frequency (4.7%) of MTHFR C677T homozygous mutant allele in Han nationality women in Lingshui Li Autonomous County was significantly higher than that in Li women (2.5%). The SNP (single nucleotide polymorphism) locus was significantly different between the two ethnic groups has statistical significane. There was no significant difference in the distribution of two SNPs between MTHFR A1298C and MTRR A66G. Conclusion There are differences in the distribution of MTHFR gene among Han nationality and Li nationality in Lingshui Li Autonomous County.