贵州3个民族亚甲基四氢叶酸还原酶基因的遗传多态性

摘要

Objective To identify the distribution feature of methylenetetrahydrofolate reductase (M T HFR) gene polymorphism of Buyi ,Dong ,Miao nationality in Guizhou .Methods The MTHFR(677 and 1 298) genotypes of Buyi ,Miao and Dong healthy indi-viduals were determined by TaqMan-MGB probe genotyping method and constructed haplotypes .Results There were significant difference of MTHFR 677C/T genotype and allele frequencies among 3 groups(P<0 .05) ,There was significant difference of geno-type between Buyi and Miao nationality ,and there were significant differences of genotype frequencies in Buyi nationality and Dong and Miao nationality(P<0 .01) .There were no differences of MTHFR 1298A/C genotype frequencies among Buyi ,Dong and Miao nationality(P> 0 .05) .Buyi nationality had the lowest frequency in double wild homozygous type (677CC/1298AA) ,677TT/1298CC double mutation homozygous and 677TT/1298AC combination in above three minorities was not found .There were linkage disequilibrium between 677C/T and 1298A/C in Buyi and Miao nationality .Conclusion The genotypes frequencies of MTHFR 677T T/1298AC are significant differences among different regions and different ethnic groups .%目的：对贵州侗族、布依族、苗族亚甲基四氢叶酸还原酶（MTHFR）基因多态性进行研究。方法应用Taq Man-MGB探针基因分型方法检测贵州3个民族MTHFR基因两个SNP（677及1298位）多态位点的基因频率及基因型频率，并构建单倍型。结果MTHFR677C/T位点3个民族之间基因型和等位基因频率差异有统计学意义（P＜0．05），其中布依族与苗族间基因型和布依族与侗族、苗族间等位基因频率差异有统计学意义（P＜0．01）。MTHFR1298A/C位点3个民族之间基因型和等位基因频率差异无统计学意义（P＞0．05）。677CC/1298AA双野生型频率以布依族最低，3个民族中均未见677TT/1298CC双纯和突变及677TT/1298AC组合。3个民族中以677C-1298A（54．3％）单倍型所占平率最高。布依族和苗族两位点间存在677C/T和1298A/C连锁不平衡现象。结论MTHFR基因677C/T和1298A/C位点在不同民族、不同地区间的分布存在明显差异。