江苏地区汉族孕前女性中与先心病相关的MTHFR基因多态性分布研究

摘要

目的:探讨江苏地区孕前汉族女性亚甲基四氢叶酸还原酶(MTHFR)c.677C＞T和c.1298A＞C两个位点基因多态性分布特征.方法:选取江苏省苏北、苏中、苏南三地区参加孕前健康检查的汉族女性共915名,以Taqman-MGB法检测MTHRF c.677C＞T和c.1298A＞C两个位点的基因分型,统计分析两位点的基因多态性分布特征并与已报道的其他地区的数据进行比较.结果:苏北汉族孕前女性MTHFR c.677C＞T位点TT基因型频率和T等位基因的频率(25.9％,48.7％)高于苏中(15.6％,41.5％)地区(x2 =9.61,P=0.008;x2 =6.31,P=0.013);与苏南(20.0％,43.7％)差异无统计学意义(P＞0.05).苏北地区MTHFR c.1298A＞C位点CC基因型频率和C等位基因的频率(2.3％,18.2％)与苏中(4.7％,19.3％)、苏南(3.2％,15.8％)比较差异无统计学意义(P＞0.05).江苏地区MTHFRc.677C＞T位点TT基因型频率和T等位基因的频率(20.5％,44.6％)高于湖南湘潭、广东惠州及海南省,低于吉林延边、山东淄博和河南郑州(P＜0.05);MTHFR c.1298A＞C位点CC基因型频率和C等位基因的频率(3.4％,17.8％)高于吉林延边、山东淄博和河南郑州,低于湖南湘潭、广东惠州及海南省(P＜0.05).结论:以苏北、苏中、苏南3个地区为代表的江苏地区汉族孕前女性MTHFR c.677C＞T和MTHFR c.1298A＞C基因多态性频率与我国其他地区相比存在一定差异,具有本地区特异性.%Objective:To explore the genotype distributions of methylene-tetrahydrofolate reductase (MTHFR) c.677C ＞T and c.1298A＞C among the pre-pregnancy Han women in Jiangsu province.Methods:A total of 915 pre-pregnancy Han women were recruited from Subei area,Suzhong area and Sunan area of Jiangsu province.The peripheral blood leucocyte cells were collected and their genomic DNA were extracted for detecting gene polymorphisms of MTHFR c.677C＞T and c.1298A＞C by the technique of Taqman-MGB.And the results were also compared with the published data from other cities of China.Results:The frequency of TT genotype of MTHFR c.677C＞T and the frequency of the T allele among the pre-pregnancy women in Subei area were 25.9 ％ and 48.7 ％,respectively,which were significantly higher than those in Suzhong area (15.6％,x2 =9.61,P=0.008;41.5％,x2 =6.31,P=0.013),and were a little higher than those in Sunan area (20.0％,43.7％) without significant difference(P＞0.05).The frequency of CC genotype of MTHFR c.1298A＞C and the frequency of C allele in Subei area were 2.3％ and 18.2％,respectively,which had no significant difference when compared with those in Suzhong area (4.7％,19.3％) and Sunan area (3.2％,15.8％).The frequencies of TT genotype and the T allele of MTHFR c.677C＞T were 20.5％ and 44.6％ among the pre-pregnancy women in Jiangsu province,and were significant higher than those in Xiangtan of Hunan Province,Huizhou of Guangdong Province and Hainan Province (P＜0.05),but were significant lower than those in Yanbian of Jilin Province,Zibo of Shangdong Province and Zhengzhou of Henan Province (P＜0.05).The frequencies of CC genotype and C allele of MTHFR c.1298A＞C were 3.4％ and 17.8％ in Jiangsu Province,which were significant higher than those in Yanbian of Jilin Province,Zibo of Shangdong Province,and Zhengzhou of Henan Province (P＜0.05),but were significant lower than those in Xiangtan of Hunan Province,Huizhou of Guangdong Province and Hainan province (P＜0.05).Conclusion:The distribution characteristics of gene polymorphism of MTHFR c.677C＞T and MTHFR c.1298A＞C among pre-pregnancy Han women from Subei area,Suzhong area,and Sunan area of Jiangsu province were different from those reported in other cities of China.