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目的:调查柳州市壮族与汉族女性中5,10-亚甲基四氢叶酸还原酶(MTHFR)及甲硫氨酸合成酶还原酶(MTRR)基因的单核苷酸多态性分布特征。方法:通过横断面调查研究方法,以广西省柳州市372位壮族和478位汉族女性为研究对象,检测其MTHFR C677T、A1298C和MTRR A66G基因位点多态性,统计分析该地区基因多态性的分布特征,并与已报道的其他地区少数民族女性数据进行比较。结果:该地区壮族和汉族女性比较,MTHFR C677T的基因型频率差异在两者间有统计学意义(P<0.05),而MTHFR A1298C和MTRR A66G两者间无统计学差异(P>0.05);MTHFR C677T和A1298C的等位基因频率在两民族间的差异有统计学意义(P<0.05),而MTRR A66G则无统计学差异(P>0.05)。该地区壮族女性MTHFR C677T的基因型频率和等位基因分布与延边朝鲜族、新疆维吾尔族、银川回族、思南苗族、思南土家族、柳州苗族、三亚黎族间差异均有统计学意义(P<0.05);而该地区壮族女性MTHFR A1298C的基因型频率和等位基因分布与延边朝鲜族、银川回族、思南苗族、思南土家族间亦有统计学差异(P<0.05);MTRR A66G的分布上则与新疆维吾尔族、思南苗族、思南土家族、南宁壮族、三亚黎族有统计学差异(P<0.05)。结论:广西省柳州市壮族女性的MTHFR和MTRR基因多态性分布特征与该地区汉族女性不同,与其他地区少数民族也不相同。
Objective: To investigate the distribution of 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms in Zhuang and Han women in Liuzhou city. Methods: A total of 372 Zhuang and 478 Han women in Liuzhou City of Guangxi Province were investigated by cross-sectional investigation. The polymorphisms of MTHFR C677T, A1298C and MTRR A66G loci were detected, and the genetic polymorphism Distribution characteristics, and with other ethnic minority women have been reported data comparison. Results: The genotype frequency of MTHFR C677T was significantly different between Zhuang and Han nationalities (P <0.05), but there was no significant difference between MTHFR A1298C and MTRR A66G (P> 0.05). The allele frequencies of MTHFR C677T and A1298C in two ethnic groups were significantly different (P <0.05), but MTRR A66G had no statistical difference (P> 0.05). The genotype frequency and allele distribution of MTHFR C677T in Zhuang women in this area were significantly different from those in Yanbian, Xinjiang Uygur, Yinchuan Hui, Sinan Miao, Sinan Tujia, Liuzhou Miao and Sanya Lhasa (P <0.05). The genotype frequency and allele distribution of MTHFR A1298C in Zhuang women in this area were also significantly different from those in Yanbian Korean, Yinchuan Hui, Sinan Miao and Sinan Tujia (P <0.05); MTRR A66G (P <0.05) with the distribution of Uygur, Sinan Miao, Sinan Tujia, Nanning Zhuang and Sanya Li ethnic groups. CONCLUSION: The MTHFR and MTRR polymorphisms of Zhuang women in Liuzhou City, Guangxi Province are different from the Han women in this area and are different from the ethnic minorities in other areas.