六盘水市5个少数民族育龄女性叶酸代谢关键酶基因SNPs的分布特征

Distribution characteristics of key enzyme genes SNPs in folate metabolism of five minority women of childbearing age in Liupanshui City

目的探讨六盘水市苗族、穿青族、布依族、白族及回族育龄女性5,10-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基因多态性的频率特征。方法以2016年10月-2019年5月六盘水市683例少数民族(苗族221例、穿青族198例、布依族98例、白族90例、回族76例)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,进行编码基因MTHFR和MTRR的相关多态性位点检测。结果六盘水市苗族女性与回族女性的MTHFR C677T等位基因频率多态性分布差异有统计学意义(P<0.05),回族女性与布依族女性、白族女性的MTHFR C677T位点基因型频率和等位基因频率多态性分布差异有统计学意义(P<0.05)。两位点连锁情况677CC/1298AA双野生型频率以回族最低;CT/CC组合仅存在于苗族;5个民族均未见677TT/1298AC组合及TT/CC双纯合突变。结论六盘水市少数民族育龄女性叶酸代谢关键酶基因位点多态性有其自身特点,具有民族特性,可以有针对性的制定符合当地民族特征的个性化叶酸补服方案。

Objective To investigate the 5,10-methylenetetrahydrofolate reductase(MTHFR) C677T,A1298C and methionine synthase reductase(MTRR) of Miao,Chuanqing,Buyi,Bai and Hui women of gestational age in Liupanshui City.The frequency characteristics of the A66 G gene polymorphism.Methods 683 pregnant women from 261 ethnic minorities(Miao 221,Chuanqing 198,Buyi 98,Bai 90 and Hui 76) from Liupanshui City in October 2016-May 2019 were selected as research objects.Oral epithelial DNA was detected by fluorescence quantitative PCR for the detection of polymorphic sites associated with the gene MTHFR and MTRR.Results The MTHFR C677T allele frequency polymorphisms of Miao women and Hui women in Liupanshui City were statistically significant(P < 0.05).The MTHFR C677T locus genotype frequencies of Hui women and Buyi women and Bai women.The difference in polymorphism distribution of the gene gene was statistically significant(P<0.05).The two-point linkage situation 677CC/1298AA double wild type frequency was the lowest in Hui nationality;CT/CC combination only existed in Miao nationality;none of the five ethnic groups saw 677TT/1298AC combination and TT/CC double homozygous mutation.Conclusion The polymorphism of key enzymes in folate metabolism of female children of childbearing age in Liupanshui City has its own characteristics and has national characteristics.It can be targeted to formulate a personalized folic acid supplementation program in line with local ethnic characteristics.