保定市涞水县汉族女性MTHFR、MTRR基因型与等位基因频率分布和其他地区汉族女性的比较

Comparison of distributions of MTHFR and MTRR genotypes and alleles frequencies between Han women in Laishui county of Baoding city and Han women in other areas

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 distribution characteristics of genes polymorphysms of 5, 10-methylenetetrahydrofolate reductase （MTHFR） and methionine synthase （MTRR） key loci in the course of folic acid metabolism in Laishui county of Baoding city, guide supple- mentation of folic acid among local pregnant .women, enhance primary prevention of birth defects. Methods The oral mucosa cells of 778 Han women of childbearing age from Laishui county of Baoding city were collected, then genomic DNA was abstracted, fluorescence quantita- tive PCR was used to detect and analyze gene polymorphisms of MTHFR （C677T, A1298C） and MTRR （A66G）, the distribution frequen- cies of single nucleotide polymorphism （SNP） of MTHFR and MTRR among Han women in Laishui county were analyzed, then the results were compared with data from Xinjiang, Jilin, Shandong, He＇nan, Jiangsu, Sichuan, Hubei, Yunnan, Guangdong, and Hainan. Results The frequency of MTHFR 677Tr genotype among Han women in Laishui county was 38. 3%, which was statistically significantly higher than those in Urumchi, Yanbian, Yantai, Zhenjiang, Deyang, Wuhan, Kunming, Guangzhou, Qionghai （P〈0. 05） ; the frequency of allele was 62. 7%, which was statistically significantly higher than those in Zhengzhou, Urumchi, Yanbian, Yantai, Zhenjiang, Deyang, Wuhan, Kunming, Guangzhou, Qionghai （P〈0. 05） . The frequency of MTHFR 1298CC genotype among Han women in Laishui county was 1.2%, which was statistically significantly lower than those in Yanbian, Zhenjiang, Deyang, Wuhan, Kunming, Guangzhou, and Qionghai （P〈0. 05 ） ; the frequency of allele was 13.7%, which was statistically significantly lower than those in Zhenjiang, Deyang, Wuhan, Kun- ming, Guangzhou, and Qionghai （P〈0. 05） . The frequency of MTRR 66GG genotype among Han women in Laishui county was 8. 1%, which was statistically significantly higher than those in Zhenjiang and Wuhan （ P〈0. 05 ） ; the frequency of allele was 27. 7% , which was statistically significantly higher than those in Zhengzhou, Zhenjiang, and Wuhan, but it was statistically significantly lower than that in Qion- ghai （P〈0. 05 ） . Conclusion The distributions of gene polymorphisms of MTHFR and MTRR among Han women in Laishui county had re- gional specificity, individualized folic acid supplementation program should be developed correspondingly.