河南地区叶酸相关代谢酶基因多态性分析  

Analysis of Gene Polymorphism of Folate Metabolic Related Enzymes in Henan

作　　者：张珂 肖瑞霞 修贺明 ZHANG Ke;XIAO Ruixia;XIU Heming(Henan Jintai Biological Technology Co.,Ltd.,Zhengzhou 450000,China)

机构地区：[1]河南金泰生物技术股份有限公司,河南郑州450000

出　　处：《河南医学研究》2021年第22期4071-4075,共5页Henan Medical Research

摘　　要：目的研究河南地区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)的基因多态性。方法以河南地区344例受检者为研究对象,进行MTHFR C677T、A1298C和MTRR A66G基因多态性检测,分析不同性别和地域人群基因型和等位基因频率的分布差异。结果河南地区MTHFR 677CC、677CT、677TT基因型频率分别为24.71%、47.09%、28.20%;MTHFR 1298AA、1298AC、1298CC基因型频率分别为70.35%、25.87%、3.78%;MTRR 66AA、66AG、66GG基因型频率分别为55.52%、38.08%、6.40%。男女受检者MTHFR C677T、A1298C和MTRR A66G基因型频率分布比较,差异无统计学意义(P>0.05)。河南地区女性MTHFR C677T等位基因和基因型频率与武汉、琼海比较,差异有统计学意义(P<0.05)。河南地区女性MTHFR A1298C等位基因和基因型频率分布情况与琼海比较,差异有统计学意义(P<0.05)。结论河南地区MTHFR和MTRR基因多态性分布不受性别影响。女性MTHFR基因多态性分布有一定的地域特点。Objective To study the genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)in Henan.Methods A total of 344 subjects in Henan were researched in this study.The gene polymorphisms of MTHFR C677T,A1298C and MTRR A66G were detected and the differences in the distribution of gentypes and allele frequencies among populations of different genders and regions were analyzed.Results The genotype frequencies of MTHFR 677CC,677CT and 677TT were 24.71%,47.09%and 28.20%.MTHFR 1298AA,1298AC and 1298CC were 70.35%,25.87% and 3.78%.MTRR 66AA,66AG and 66GG were 55.52%,38.08% and 6.40%.There was no statistical difference in the frequency distribution of MTHFR C677T,A1298C and MTRR A66G genotypes between males and females(P<0.05).To females,there were statistical differences in the distribution of MTHFR C677T genotype and allele frequencies between Henan and Wuhan,Qionghai(P<0.05).To females,there was statistical difference in the distribution of MTHFR A1298C genotype and allele frequencies between Henan and Qionghai(P<0.05).Conclusion The distribution of MTHFR and MTRR gene polymorphisms in Henan is not affected by gender.The distribution of female MTHFR gene polymorphism has certain regional specificity.

关 键 词：5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 基因多态性 叶酸 

分 类 号：R394[医药卫生—医学遗传学]