丹阳市汉族女性叶酸代谢关键酶基因多态性分布特征研究  

Study on gene polymorphism of key enzymes of folate metabolism in han nationality women in Danyang City

作　　者：许苏华[1] 黄红琴 胡季芳 鲁衍强 XU Su-hua;HUANG Hong-qin;HU Ji-fang;LU Yan-qiang(Danyang Maternal and Child Health Hospital,Zhenjiang,Jiangsu 212300,China)

机构地区：[1]丹阳市妇幼保健院,江苏镇江212300 [2]上海张江普汇转化医学研究院

出　　处：《中国妇幼保健》2023年第4期721-724,共4页Maternal and Child Health Care of China

基　　金：中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0192)。

摘　　要：目的 研究丹阳市汉族女性叶酸代谢关键酶MTHFR和MTRR的基因多态性分布特征。方法 选取2015—2020年在丹阳市妇幼保健院进行孕期检查的汉族健康女性6 074名,采集口腔黏膜上皮细胞,提取基因组DNA,通过荧光定量PCR检测MTHFR C677T、A1298C及MTRR A66G基因位点情况。结果 入组人群的MTRR A66G和MTHFR C677T、A1298C位点基因多态性分布均符合Hardy-Weinberg平衡分析(均P>0.05)。丹阳市汉族女性MTHFR C677T位点野生基因型CC型占比为30.3%,杂合突变型CT型占比为48.4%,纯合突变型TT型占比为21.3%;MTHFR A1298C位点AA基因型占比为68.8%,AC基因型占比为28.1%,CC基因型占比为3.1%;MTRR A66G位点AA基因型占比为56.7%,AG基因型占比为37.3%,GG基因型占比为6.0%。丹阳市汉族女性MTHFR C677T位点等位基因C、T频率分别为54.5%和45.5%,MTHFR A1298位点等位基因A、C频率分别为82.9%和17.1%,MTRR A66G位点等位基因A、G频率分别为75.3%和24.7%。丹阳市汉族育龄女性MTHFR A1298C和C677T位点有8种组合,频率最高的是AA/CT(33.5%),两位点间存在连锁不平衡(D’=0.992,r^(2)=0.17)。结论 丹阳市汉族女性叶酸利用能力中等,高风险人群还需加强孕期管理。Objective To study the distribution characteristics of gene polymorphism of MTHFR and MTRR,the key enzymes of folate metabolism, in Danyang Han women.Methods A total of 6 074 healthy Han women who were examined during pregnancy in Danyang Maternal and Child Health Care Hospital from 2015 to 2020 were taken as the research objects.The oral mucosal epithelial exfoliated cells were collected, genomic DNA was extracted, and the genetic polymorphisms of MTHFR C677T,A1298C and MTRR A66G were detected by fluorescence quantitative PCR method, and statistical analysis was performed.Results The distribution of MTRR A66G and MTHFR C67T,A1298C gene polymorphisms of the enrolled subjects were consistent with Hardy-Weinberg equilibrium analysis(all P>0.05).The genotype frequencies of MTHFR 677CC,CT,and TT in Danyang Han women were 30.3%,48.4%,and 21.3% respectively.The genotype frequencies of MTHFR 1298AA,AC,and CC were 68.8%,28.1%,and 3.1% respectively.The genotype frequencies of MTRR 66AA,AG,and GG are 56.7%,37.3%,and 6.0% respectively.The frequencies of C and T alleles at MTHFR C677T locus in Danyang Han women were 54.5% and 45.5% respectively.The frequencies of A and C alleles at MTHFR A1298C locus were 82.9% and 17.1% respectively.The frequencies of A and G alleles at MTRR A66G locus were 75.3% and 24.7% respectively.There were 8 combinations of two-point linkage between MTHFR A1298C and C677T in Danyang Han women.The most frequent one was AA/CT(33.5%).There was a linkage disequilibrium between the two points(D’=0.992,r^(2)=0.17).Conclusion The utilization capacity of folic acid of Han women in Danyang City was medium, and the high-risk populations need to strengthen the management of pregnancy.

关 键 词：基因多态性 亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R394[医药卫生—医学遗传学]