赤峰市汉族和蒙古族女性MTHFR与MTRR基因多态性分布研究

目的研究赤峰市汉族和蒙古族女性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。方法选择2016-2019年在赤峰市妇幼保健院进行产检的健康女性2 385人,提取样本DNA,采用荧光定量PCR技术检测MTRR A66G和MTHFR C677T/A1298C基因型和等位基因。结果入组对象的MTRR A66G和MTHFR C677T/A1298C基因多态性符合遗传平衡。赤峰市蒙古族、汉族女性MTHFR C677T/A1298C和MTRR A66G基因型和等位基因频率比较差异均无统计学意义(均P>0.05)。MTHFR C677T/A1298C汉族女性有7种组合,频率最高的是TT/AA (34.1%),之后依次是CT/AA、CT/AC、CC/AC、CC/AA、CC/CC、TT/AC;蒙古族女性有6种组合,频率最高的是CT/AA (36.8%),之后依次是TT/AA、CT/AC、CC/AA、CC/AC、CC/CC。蒙古族女性MTHFR C677T和A1298C两位点间存在完全连锁不平衡(D’=1.000,r2=0.199)。汉族女性MTHFR C677T和A1298C两位点间存在完全连锁不平衡(D’=0.996,r2=0.250)。结论通过调查赤峰市汉族、蒙古族女性叶酸代谢关键酶的基因多态性分布,可以为基于群体遗传特征的出生缺陷病因学研究和临床干预研究提供依据,指导科学增补叶酸营养,实施个性化保健。

Study on the distribution of MTHFR and MTRR gene polymorphisms in Han women and Mongolian women in Chifeng

Objective To research the distribution of 5,10-methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)gene polymorphisms in Han women and Mongolian women in Chifeng.Methods A total of 2385 healthy women receiving prenatal examination in Chifeng Municipal Maternal and Child Health Care Hospital from 2016 to 2019 were selected,DNA was abstracted,fluorescence quantitative PCR was used to detect genotypes and alleles of MTRR A66G and MTHFR C677T/A1298C.Results MTRR A66G and MTHFR C677T/A1298C gene polymorphisms conformed to Hardy-Weinberg equilibrium.There was no statistically significant difference in the frequencies of genotypes and alleles of MTRR A66G and MTHFR C677T/A1298C between Han women and Mongolian women(P>0.05).Among Han women,MTHFR C677T/A1298C had seven combinations,the frequency of TT/AA was the highest(34.1%),followed by CT/AA,CT/AC,CC/AC,CC/AA,CC/CC,TT/AC.Among Mongolian women,MTHFR C677T/A1298C had six combinations,the frequency of CT/AA was the highest(36.8%),followed by TT/AA,CT/AC,CC/AA,CC/AC,CC/CC.Among Mongolian women,there was a complete linkage disequilibrium between MTHFR C677T and A1298C(D'=1.000,r^2=0.199).Among Han women,there was a complete linkage disequilibrium between MTHFR C677T and A1298C(D'=0.996,r^2=0.250).Conclusion This study about distribution of gene polymorphisms of folic acid key enzymes in Han women and Mongolian women in Chifeng can provide a basis for etiological study of birth defects and clinical intervention based on population genetic characteristics,direct scientific supplementation of folic acid and implementation of personalized health care.