辽源市汉族女性MTHFR和MTRR的遗传多态性分析

Analysis on genetic polymorphisms of MTHFR and MTRR among Han women in Liaoyuan city

目的调查辽源市汉族育龄女性叶酸代谢相关酶基因(MTHFR、MTRR)多态性分布特征,以指导育龄女性增补叶酸和出生缺陷一级预防。方法以辽源市307例汉族女性为研究对象,提取口腔黏膜上皮细胞基因组DNA,通过荧光定量PCR法对MTHFR和MTRR的多态性位点进行分析,获得辽源市妇女该基因的分布特征,并与已报道的其他地区的数据进行比较。结果辽源市汉族女性MTHFR C677T基因型构成与乌鲁木齐、银川、淄博、郑州、镇江、松滋、眉山、昆明、南宁、惠州、琼海数据相比差异有统计学意义(P<0.05);MTHFR A1298C基因型构成与松滋、银川、南宁、惠州、琼海数据的差异均有统计学意义(P<0.05);MTRR A66G的基因型构成仅与琼海的差异有统计学意义(P<0.05)。结论辽源市汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。

Objective To survey the distribution characteristics of related enzymes of fofic acid metabolism-methylenetetrahydrofolate reduetase （MTHFR） and methionine synthase reduetase （MTRR） among Han women in Liaoyuan city, direct folie acid supplementation and primary prevention of birth defects among women of childbearing age. Methods A total of 307 Han women were selected from Liaoyuan cit- y, genomic DNA was obtained from oral mucosa cells. Fluorescence quantitative PCR was used to analyze MTHFR and MTRR gene polymor- phisms, the distribution characteristics were obtained, then the results were compared with those reported in other regions. Results There was no statistically significant difference in the proportions of MTHFR C677T geuotype between Han women in Liaoyuan city and the women in Urumqi, Yinchuan, Zibo, Zhengzhou, Zheujiang, Songzi, Meishan, Kunming, Nanning, Huizhou, Qionghai （P〈0. 05） . There was statistically significant difference in MTHFR A1298C genotype between Han women in Liaoyuan city and the women in Songzi, Yinchuan, Nanning, Huizhou, Qionghai （ P〈0. 05 ） . There was statistically significant difference in MTRR A66G genotype between Han women in Li- aoyuan city and the women in Qionghai （ P 〈 0. 05 ） . Conclusion The distribution of MTHFR and MTRR polymorphisms among Han women in Liaoyuan city has regional specificity.