准格尔旗汉族女性MTHFR与MTRR基因多态性分布研究

Study on the distributions of MTHFR and MTRR gene polymorphisms among Han women in Jungar Banner

目的分析准格尔旗汉族女性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)基因多态性分布。方法选取2018年1月-2019年7月在准格尔旗妇幼保健院进行孕期检查的汉族健康女性为研究对象,提取口腔黏膜细胞样本的基因组DNA,使用荧光定量PCR方法检测MTHFR C677T、A1298C和MTRR A66G基因多态性。结果入组对象的MTHFR C677T、A1298C和MTRR A66G基因多态性分布符合遗传平衡。MTHFR C677T CC、CT、TT基因型频率分别为27.7%、51.4%、20.8%;MTHFR A1298C AA、AC、CC基因型频率分别为68.1%、27.9%、4.0%;MTRR A66G AA、AG、GG基因型频率分别为51.4%、40.2%、8.4%。MTHFR C677T C、T等位基因频率分别为53.4%、46.6%;MTHFR A1298C A、C等位基因频率分别为82.0%、18.0%;MTRR A66G A、G等位基因频率分别为71.5%、28.5%。MTHFR C677T/A1298C汉族女性有6种组合,频率最高的是CT/AA (36.0%),之后依次为TT/AA、CT/AC、CC/AC、CC/AA、CC/CC。MTHFR C677T和A1298C两个位点间存在完全连锁不平衡(D’=1.0,r2=0.191)。结论通过对育龄妇女叶酸代谢障碍相关基因位点进行筛查,识别叶酸利用能力低下的人群,进行个体化干预及重点人群孕期管理,可达到出生缺陷一级预防的目的。

Objective To analyze the distributions of 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms among Han women in Jungar Banner. Methods The healthy Han women receiving prenatal examination in Maternal and Child Health Care Hospital of Jungar Banner from January 2018 to July 2019 were selected,genome DNA of oral mucosa cells was obtained,fluorescent quantitative PCR was used to detect MTHFR C677T,A1298C and MTRR A66G gene polymorphisms.Results The distributions of MTHFR C677T,A1298C and MTRR A66G gene polymorphisms conformed to Hardy-Weinberg equilibrium.The frequencies of MTHFR C677T CC,CT,and TT genotypes were 27. 7%,51. 4%,and 20. 8%,respectively. The frequencies of MTHFR A1298C AA,AC,and CC genotypes were 68. 1%,27. 9%,and 4. 0%,respectively. The frequencies of MTRR A66G AA,AG,and GG genotypes were 51. 4%,40. 2%,and 8. 4%,respectively. The frequencies of MTHFR C677T C and T alleles were 53. 4% and 46. 6%,respectively. The frequencies of MTHFR A1298C A and C alleles were 82. 0% and 18. 0%,respectively. The frequencies of MTRR A66G A and G alleles were 71. 5% and 28. 5%,respectively. There were six combinations of MTHFR C677T/A1298C among Han women,the frequency of CT/AA was the highest (36. 0%),followed by TT/AA,CT/AC,CC/AC,CC/AA,CC/CC. There was complete linkage disequilibrium between MTHFR C677T and MTHFR A1298 C (D’ = 1. 0,r^2= 0. 191). Conclusion Screening of folate metabolism disorder-related genetic loci among the women of childbearing age can distinguish the women with low utilization of folic acid,carrying out individual intervention and key population management during pregnancy can achieve the goal of primary prevention of birth defects.