山东省海阳市汉族育龄女性叶酸代谢关键酶基因多态性分布情况  

Distribution of gene polymorphisms of key enzymes of folic acid metabolism in Han women of childbearing age in Haiyang,Shandong Province

作　　者：张忠平 陶继才 董兆笋 张绍华 马仁竹 胡季芳 杨琦[3] 鲁衍强 ZHANG Zhong-Ping;TAO Ji-Cai;DONG Zhao-Sun(Haiyang Maternal and Child Health Service Center,Yantai,Shandong 265100,China)

机构地区：[1]海阳市妇幼保健服务中心,山东烟台265100 [2]上海张江普汇转化医学研究院,上海201318 [3]中国疾病预防控制中心妇幼保健中心,北京100101

出　　处：《中国妇幼保健》2021年第11期2634-2636,共3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-0228)。

摘　　要：目的针对山东省海阳市汉族女性开展分子流行病学调查,研究叶酸代谢关键酶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)的基因多态性分布情况。方法选取2017年12月-2020年1月在海阳市妇幼保健服务中心进行围孕期检查的370名汉族健康女性为研究对象,采集所有研究对象口腔黏膜上皮脱落细胞,抽提基因组DNA,使用荧光定量PCR方法检测MTHFR C677T、A1298C和MTRR A66G基因多态性,并进行统计学分析。结果入组对象的基因多态性分布符合遗传平衡。汉族女性MTHFR 677CC、CT、TT的基因型频率分别为15.7%、47.8%、36.5%,C、T等位基因频率分别为39.6%、60.4%;MTHFR 1298AA、AC、CC的基因型频率分别为77.6%、21.4%、1.08%,A、C等位基因频率分别为88.2%、11.8%;MTRR 66AA、AG、GG的基因型频率分别为53.5%、40.0%、6.49%,A、G等位基因频率分别为73.5%、26.5%。汉族女性MTHFR C677T和A1298C两位点连锁有6种组合,频率最高的是TT/AA (36.5%),无CT/CC、TT/AC和TT/CC组合。两位点间存在完全连锁不平衡(D’=1.0,r2=0.203)。结论获取海阳市汉族女性MTHFR和MTRR基因多态性的群体遗传学特征,为围孕期保健指导科学增补叶酸提供依据。Objective A molecular epidemiological survey was conducted on Han women in Haiyang,Shandong Province,to study the distribution of gene polymorphisms of 5,10-methylene tetrahydrofolate reductase( MTHFR) and methionine synthase reductase( MTRR) in folic acid metabolism. Methods A total of 370 healthy Han women who underwent perinatal examination in Haiyang Maternal and Child Health Service Center from December 2017 to January 2020 were selected as the research subjects. The exhumed oral mucosal epithelial cells of all the subjects were collected. Genomic DNA was extracted,and the polymorphisms of MTHFR C677 T,A1298 C and MTRR A66 G genes were detected by fluorescence quantitative PCR,and analyzed statistically. Results The distribution of genetic polymorphisms in the subjects accorded with genetic balance. The genotype frequencies of MTHFR 677 CC,CT and TT in Han females were 15. 7%,47. 8%,36. 5%,and the alleles frequencies of C and T were 39. 6%,60. 4%. The genotype frequencies of MTHFR 1298 AA,AC and CC were 77. 6%,21. 4%,1. 08%,and the alleles frequencies of A and C were 88. 2%,11. 8%;The genotype frequencies of MTRR 66 AA,AG and GG were 53. 5%,40. 0%,64. 9%,and the alleles frequencies of A and G were 73. 5%,26. 5%. There were 6 linkage combinations of MTHFR loci C677 T and A1298 C in Han females,the highest frequency was TT/AA( 36. 5%),and no CT/CC,TT/AC and TT/CC combinations. There were complete linkage inequalities between the two loci( D’ = 1. 0,r2= 0. 203). Conclusion The population genetic characteristics of MTHFR and MTRR gene polymorphisms were obtained in Han women of Haiyang city,to provide basis for scientific supplement of folic acid in perinatal health guidance.

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

分 类 号：R71[医药卫生—妇产科学]