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目的分析叶酸代谢过程中5,10-亚甲基四氢叶酸还原酶(MTHFR)与甲硫氨酸合成酶还原酶(MTRR)重要基因位点多态性在河北省保定市涞水县地域分布特征,指导当地孕产期妇女叶酸增补,达到增强出生缺陷一级预防的目的。方法采集保定市涞水县778名育龄汉族妇女口腔黏膜上皮脱落细胞并提取基因组DNA,利用荧光定量PCR方法对MTHFR(C677T、A1298C)和MTRR(A66G)基因多态性位点进行检测分析,了解涞水县汉族女性MTHFR和MTRR基因单核苷酸位点多态性(SNP)的分布频率,并与新疆、吉林、山东、河南、江苏、四川、湖北、云南、广东、海南等地区进行比较。结果涞水地区汉族妇女MTHFR 677TT基因型频率(38.3%)高于乌鲁木齐、延边、烟台、镇江、德阳、武汉、昆明、广州、琼海(P<0.05),等位基因频率(62.7%)高于郑州和上述城市(P<0.05);MTHFR 1298CC基因型频率(1.2%)低于延边、镇江、德阳、武汉、昆明、广州和琼海(P<0.05),等位基因频率(13.7%)低于镇江、德阳、武汉、昆明、广州、琼海(P<0.05);MTRR 66GG基因型频率(8.1%)高于镇江、武汉,等位基因频率(27.7%)高于郑州、镇江、武汉,但低于琼海(P<0.05)。结论保定市涞水县育龄汉族女性5,10-亚甲基四氢叶酸还原酶及甲硫氨酸合成酶还原酶基因的多态性频率分布具有当地特异性,可以有针对性地制定个性化的孕期叶酸增补方案。
Objective To analyze the genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in the folic acid metabolism in Huangshui County, Baoding City, Hebei Province Characteristics, to guide the local women of maternal folic acid supplementation, to enhance the primary prevention of birth defects purposes. Methods The oral mucosal epithelial cells from 778 women of childbearing age in Baishui County of Baishuang County were collected and genomic DNA was extracted. The polymorphisms of MTHFR (C677T, A1298C) and MTRR (A66G) gene were detected by real-time PCR. The distribution frequency of MTHFR and MTRR gene single nucleotide polymorphisms (SNPs) in Han nationality women in Huangshui County were compared with those in Xinjiang, Jilin, Shandong, Henan, Jiangsu, Sichuan, Hubei, Yunnan, Guangdong and Hainan . Results The frequencies of MTHFR 677TT genotype (38.3%) in Han women in Xishui district were higher than those in Urumqi, Yanbian, Yantai, Zhenjiang, Deyang, Wuhan, Kunming, Guangzhou and Qionghai and the allele frequency was 62.7% Zhenjiang, Deyang, Wuhan, Kunming, Guangzhou and Qionghai (P <0.05). The frequency of allele (13.7%) was lower in MTHFR 1298CC genotype than that in the above cities (P <0.05) Wuhan, Kunming, Guangzhou and Qionghai (P <0.05). The frequency of MTRR 66GG genotype (8.1%) was higher than that of Zhenjiang, Wuhan, and the allele frequency was 27.7% higher than that of Zhengzhou, Zhenjiang and Wuhan , But lower than Qionghai (P <0.05). Conclusion The frequency distribution of polymorphism of 5,10-methylenetetrahydrofolate reductase and methionine synthase reductase gene in Han nationality women of Baishui County in Baishui City has local specificity and can be tailored to individualize Pregnancy folic acid supplement program.