镇江市汉族女性MTHFR和MTRR基因多态性分布研究

目的:探讨镇江市汉族女性亚甲基四氢叶酸还原酶(MTHFR)C677T?A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G基因多态性的分布特征?方法:采用横断面调查研究方法,以镇江市2 885例汉族女性为对象,采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测?统计分析基因多态性的分布特征,并与已报道的其他地区的数据进行比较?结果:镇江市汉族女性的MTHFR 677TT纯合突变基因型频率为21.8%,高于海南和德阳地区,低于潍坊和郑州地区(P < 0.01)?MTHFR 1298CC纯合突变基因型频率为3.5%,低于德阳和海南地区(P < 0.01);与潍坊和郑州地区的差异无统计学意义(P > 0.05)?MTRR 66GG纯合突变基因型频率为6.0%,低于海南地区(P < 0.01);与潍坊?郑州?德阳地区的差异均无统计学意义(P > 0.05)?结论:镇江市汉族女性具有不同于其他地区的MTHFR和MTRR基因多态性分布特征?

Study on the MTHFR and MTRR polymorphism among the Han women in Zhenjiang city

Objective:To explore the gene polymorphisms distribution of methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C and methionine synthase reductase (MTRR) A66G amomg the Han female in Zhenjiang,Jiangsu. Methods:A cross-sectional study was used. A total of 2 885 oral epithelial cells samples from recruited Han women in Zhenjiang were collected. The detections of MTHFR and MTRR gene polymorphisms conducted with Taqman-MGB technology. The distribution of gene polymorphisms of this study was analyzed and compared with partial regions of China,which included Weifang,Zhengzhou,Deyang and Hainan Province. Results:Among the Han women in Zhenjiang,the frequencies of MTHFR 677CC,CT,TT genotypes were 30.4%,47.8% and 21.8%;the frequencies of MTHFR 1298AA,AC,CC genotypes were 69.1%,27.4% and 3.5%;and the frequencies of MTRR 66AA,AG,GG genotypes were 56.9%,37.1% and 6.0%. Compared with partial other regions,the study found that the frequency of MTHFR 677TT genotype of Han women in Zhenjiang was higher than that in Deyang and Hainan,and lower than that in Weifang and Zhengzhou (all P < 0.01). The frequency of MTHFR 1298CC genotype of Han women in Zhenjiang was lower than that in Deyang and Hainan (all P < 0.01). The genotype of MTRR A66G of Han women in Zhenjiang was lower than that in Hainan(P < 0.01),while no difference was found when compared with other 3 regions (all P > 0.05). Conclusion:The gene polymorphisms distributions of MTHFR C677T,A1298C and MTRR A66G among the Han women in Zhenjiang were found to be statistically different from partial other regions of China.