淮安市汉族女性MTHFR和MTRR基因多态性研究  

Study on gene polymorphisms of MTHFR and MTRR among Han nationality women in Huai'an city

作　　者：朱晓琴[1] 鲁衍强 王慧[1] 谢艳[1] 叶凤梅 杨琦[3] ZHU Xiao-Qin;LU Yan-Qiang;WANG Hui;et al(Huai＇an Municipal Maternal and Child Health Care Hospital, Huai＇an, Jiangsu 223002, Chin)

机构地区：[1]淮安市妇幼保健院,江苏淮安223002 [2]上海靶向分子医学研究所,上海200433 [3]中国疾病预防控制中心妇幼保健中心,北京100101

出　　处：《中国妇幼保健》2017年第24期6222-6226,共5页Maternal and Child Health Care of China

基　　金：中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0311)

摘　　要：目的调查淮安市汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)基因多态性分布特征,为进一步降低出生缺陷及孕产妇疾病提供分子医学理论依据。方法采用横断面调查研究方法,以到淮安市妇幼保健院做孕期检查的3 494例汉族女性为研究对象。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。分析该地区基因多态性分布特征,并与已报道地区和民族进行比较。结果淮安市汉族女性MTHFR C677T和A1298C位点的基因型和等位基因频率与廊坊、潍坊、郑州、武汉、九江、湘潭、广州和琼海相比差异有统计学意义(均P<0.05)。MTRR A66G位点的基因型频率与广州和琼海相比差异有统计学意义(均P<0.05)。MTHFR C677T、A1298C和MTRR A66G基因型和等位基因频率分布与柳州苗族、三江侗族、三亚黎族等人群差异有统计学意义(均P<0.05)。结论淮安市汉族女性的MTHFR、MTRR基因频率分布有自身特点,可根据基因型特点有针对性地制定个性化的孕期叶酸增补方案。Objective To survey the distribution characteristics of 5,10-methylenetetrahydrofolate reductase （MTHFR） and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase （MTRR） gene polymorphisms among Han nationality women in Huai＆#39;an city,provide a theoretical basis of molecular medicine for further reducing birth defects and maternal diseases.Methods A cross-sectional study was conducted among 3 494 Han nationality women receiving prenatal examination in Huai＆#39;an Municipal Maternal and Child Health Care Hospital.Oral epithelial cells were collected to abstract genomic DNA,Taqman-MGB technique was used to detect gene polymorphisms of MTHFR and MTRR.The distribution characteristics of MTHFR and MTRR gene polymorphisms in the region were analyzed statistically,then the results were compared with those of other nationalities and other areas in China.Results There were statistically significant differences in the frequencies of MTHFR C677T and A1298C genotypes and alleles between Han nationality women in Huai＆#39;an city and Han nationality women in Langfang,Weifang,Zhengzhou,Wuhan,Jiujiang,Xiangtan,Guangzhou,Qionghai （P〈0.05）.There were statistically significant differences in the frequencies of MTRR A66G genotypes and alleles between Han nationality women in Huai＆#39;an city and Han nationality women in Guangzhou and Qionghai （P〈0.05）.There were statistically significant differences in the frequencies of MTHFR C677T,A1298C and MTRR A66G genotypes and alleles between Han nationality women in Huai＆#39;an city and Miao nationality women in Liuzhou,Dong nationality women in Sanjiang,Li nationality women in Sanya （P〈0.05）.Conclusion The distribution frequencies of MTHFR and MTRR gene polymorphisms among Han nationality women in Huai＆#39;an city have their own characteristics,individualized folic acid supplementation program should be developed targeting to the characteristics of MTHFR and MTRR gene polymorphisms.

关 键 词：出生缺陷 汉族女性 5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R173[医药卫生—妇幼卫生保健]