长顺县汉族布依族及苗族育龄女性叶酸代谢通路关键酶基因MTHFR和MTRR单核苷酸多态性的分布特征

Distribution characteristics of single nucleotide polymorphisms of folate metabolism pathway key enzymes MTHFR and MTRR among Han,Buyi,and Miao women in Changshun County

目的探讨贵州省黔南布依族苗族自治州长顺县汉族、布依族及苗族育龄女性5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)基因单核苷酸多态性的分布特征。方法选取2018年8月—2019年4月长顺县1127例汉族、布依族及苗族育龄女性为研究对象,提取口腔上皮细胞DNA,采用荧光定量PCR法进行MTHFR和MTRR基因相关多态性位点的检测。结果长顺县汉族、布依族及苗族育龄女性MTHFR基因C677T位点基因型频率和等位基因频率比较差异均有统计学意义(均P<0.05),MTHFR基因A1298C位点和MTRR基因A66G位点基因型频率和等位基因频率比较差异均无统计学意义(均P>0.05)。MTHFR基因C677T、A1298C两位点连锁CC/AA双野生型频率以汉族最低,布依族最高,分别为汉族21.1%,苗族22.1%,布依族24.7%;3个民族均未见CT/CC组合、TT/AC组合及TT/CC双纯合突变。汉族、布依族及苗族均存在3种单倍型组合,且均为两位点间完全连锁不平衡,D′=1.0。结论长顺县汉族、布依族及苗族育龄女性叶酸代谢通路关键酶基因MTHFR和MTRR单核苷酸多态性有其自身特点,与当地汉族育龄女性有差异,具有民族特性,可以有针对性地制定符合当地民族特征的个性化叶酸补服方案。

Objective To explore the distribution characteristics of single nucleotide polymorphisms of 5,10-methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)in Han,Buyi,and Miao women of childbearing age in Changshun Coun-ty,Qiannan Buyi and Miao Autonomous Prefecture,Guizhou Province.Methods From August 2018 to April 2019,1127 women of child-bearing age from Han,Buyi,and Miao nationalities in Changshun County were selected as research subject.DNA of oral epithelial cells was extracted and fluorescent quantitative PCR was used to detect related polymorphic sites of MTHFR and MTRR.Results There were statisti-cally significant differences in the distribution frequencies of genotypes and alleles of MTHFR C677T among Han nationality,Buyi nationali-ty,and Miao nationality in Changshun County(P<0.05).There was no statistically significant difference in the distribution frequencies of genotypes and alleles of MTHFR A1298C and MTRR A66G(P>0.05).The frequency of MTHFR C677T and A1298C two-point-linked CC/AA double wild-type was the lowest in Han nationality,and the highest in Buyi nationality,which were 21.1%in Han nationality,22.1%in Miaonationality,and 24.7%in Buyi nationality,respectively;677CT/1298CC combination,TT/AC combination,and TT/CC double homozygous mutation was not found in Han nationality,Buyi nationality,and Miao nationality.There were three haplotype combina-tions in Han nationality,Buyi nationality,and Miao nationality,and they were all in complete linkage disequilibrium between the two points,D'=1.O.Conclusion Single nucleotide polymorphisms of the key enzyme genes MTHFR and MTRR of folate metabolism in Han,Buyi,and Miao women of childbearing age in Changshun County has its own characteristics.It is different from the local Han women of childbearing age.It has ethnic characteristics,personalized folic acid supplement plan can be tailored to meet local ethnic characteristics.