重庆市彭水汉族女性MTHFR、MTRR基因型和等位基因频率分布与其他地区汉族女性的比较  

Comparison of genotype and allele frequency distribution of MTHFR and MTRR in Han women between Pengshui county of Chongqing and other areas

作　　者：胡绍梅 刘欣雨[2] 张宁 杨琦[3] 

机构地区：[1]重庆市彭水苗族土家族自治县人民医院,重庆409600 [2]解放军第三二四医院,重庆400020 [3]中国疾病预防控制中心妇幼保健中心,北京100101

出　　处：《武警后勤学院学报（医学版）》2017年第5期413-416,共4页Journal of Logistics University of PAP（Medical Sciences）

摘　　要：【目的】研究叶酸代谢障碍遗传风险分布地域性特征、彭水苗族土家族自治县汉族女性中MTHFR及MTRR基因的多态性频率特征,以指导孕龄妇女增补叶酸及出生缺陷一级预防。【方法】随机选取彭水苗族土家族自治县391位汉族女性检测其MTHFR C677T、A1298C及MTRR A66G基因位点多态性,分析该地区基因的多态性分布特征。【结果】本县的汉族女性MTHFR677TT基因型频率(8.0%)低于尚志(30.1%)、乌鲁木齐(26.1%)、延边(28.3%)、廊坊(33.9%)、银川(23.0%)、烟台(32.2%)、济源(37.4%)、镇江(21.8%)、荆州(14.3%)、眉山(17.7%)、九江(13.0%)、湘潭(12.6%)、昆明(14.1%)、惠州(10.9%)(P<0.01);MTHFR 1298CC基因型频率(4.1%)高于尚志(2.0%)、廊坊(1.9%)、银川(3.4%)、烟台(1.8%)、济源(2.0%)、镇江(3.5%)(P<0.05),等位基因频率(21.7%)最高(P<0.05);MTRR 66GG基因型频率(6.1%)低于琼海(9.3%)(P<0.05),等位基因频率(26.2%)低于烟台(26.3%)、琼海(30.9%)(P<0.01)。【结论】重庆市彭水苗族土家族自治县的汉族女性5,10亚甲基四氢叶酸合成酶及甲硫氨酸合成酶还原酶基因的多态性频度分布具有地区特异性。对于基因突变导致叶酸代谢有障碍的孕期妇女需要通过增加叶酸补服的剂量和时间预防神经管畸形患儿的出生。【Objective】 To investigate the regional characteristics of genetic risk distribution of folate metabolism disorders and polymorphism frequency features of methylenetetrahydrofolate reductase（MTHFR） and methionine synthase（MTRR） among Han women in Pengshui Miao and Tujia Autonomous County, and guide folic acid supplementation in pregnant women and primary prevention of birth defects.【Methods】A total of 391 Han women were randomly selected from Pengshui Miao and Tujia Autonomous County. The gene polymorphisms of their MTHFR C677 T, A1298 C and MTRR A66 G were determined. The features of gene polymorphism distribution were analyzed in this area.【Results】Among the Han women in Pengshui Miao and Tujia Autonomous County, the genotype frequency of MTHFR 677TT（8.0%） was lower than those in Shangzhi（30.1%）, Urumuqi（26.1%）, Yanbian（28.3%）, Langfang（33.9%）, Yinchuan（23.0%）, Yantai（32.2%）, Jiyuan（37.4%）, Zhenjiang（21.8%）, Jingzhou（14.3%）, Meishan（17.7%）, Jiujiang（13.0%）, Xiangtan（12.6%）, Kunming（14.1%） and Huizhou（10.9%）（P〈0.01）; the genotype frequency of MTHFR1298CC（4.1%） was higher than those in Shangzhi（2.0%）, Langfang（1.9%）, Yinchuan（3.4%）, Yantai（1.8%）, Jiyuan（2.0%） and Zhenjiang（3.5%）（P〈0.05）, and the allele frequency（21.7%） was the highest（P〈0.05）; the genotype frequency of MTRR 66GG（6.1%）was lower than that in Qionghai（9.3%）（P〈0.01） and the allele frequency（26.2%） was lower than those in Yantai（26.3%） and Qionghai（30.9%）（P〈0.01）.【Conclusion】The gene polymorphism distribution of MTHFR and MTRR among the Han women in Pengshui Miao and Tujia Autonomous County has regional specificity. Those pregnant women suffered from folate metabolism disorders caused by genetic mutations need to increase the dose and treatment time of folic acid to prevent neural tube defects.

关 键 词：亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 单核苷酸多态性 

分 类 号：R169.1[医药卫生—公共卫生与预防医学]