河北省廊坊市广阳区汉族女性MTHFR、MTRR基因多态性分布特征分析  

Analysis on distribution characteristics of MTHFR and MTRR gene polymorphisms among Han women in Guangyang District of Langfang city

作　　者：路广平[1] 鲁衍强 薛琰 夏清 周延春[1] 邵彤华 沈宏杰[1] 杨琦[3] 

机构地区：[1]廊坊市广阳区妇幼保健院,河北廊坊065000 [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》2016年第16期3316-3319,共4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-0212)

摘　　要：目的探讨河北省廊坊市广阳区汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)及甲硫氨酸合成酶还原酶(MTRR)基因的多态性频率分布特征,以指导孕龄妇女增补叶酸以及预防出生缺陷。方法以廊坊市广阳区1 056位汉族女性为研究对象,检测MTHFR C677T、A1298C及MTRR A66G基因位点的多态性,统计分析该地区基因的多态性频率分布特征,并与已报到的其他地区的汉族女性数据进行比较。结果本区的汉族女性MTHFR C677TT基因型频率(36.7%)高于尚志(30.1%)、乌鲁木齐(26.1%)、延边(28.3%)、廊坊(33.9%)、荆州(14.3%)、眉山(17.7%)、九江(13.0%)、湘潭(12.6%)、南宁(7.7%)、银川(23.0%)、镇江(21.8%)、昆明(14.1%)、琼海(6.1%),存在统计学差异(P<0.05);MTHFR A1298CC基因型频率(2.1%)高于尚志(2.0%)、廊坊(1.9%)、淄博(1.4%),存在统计学差异(P<0.05),等位基因频率(13.2%)最高(P<0.05);MTRR A66GG基因型频率(7.4%)低于琼海(9.3%),存在统计学差异(P<0.05),等位基因频率(25.5%)低于乌鲁木齐(26.1%)、九江(26.4%)、湘潭(26.4%)、琼海(30.9%),存在统计学差异(P<0.05)。结论廊坊市广阳区的汉族女性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显著的地区特异性。对于基因突变导致的叶酸代谢障碍孕期妇女需要通过加强叶酸补服剂量和延长补服时间来预防神经管畸形患儿的出生。Objective To explore the distribution characteristics of methylenetetrahydrofolate reductase（ MTHFR） and methionine synthase（ MTRR） gene polymorphisms among Han women in Guangyang District of Langfang city,guide folic acid supplementation and birth defects prevention among the women of childbearing age. Methods A total of 1 056 Han women were selected from Guangyang District of Langfang city,gene polymorphisms of MTHFR C677 T,A1298C and MTRR A66 G were detected and analyzed statistically,then the results were compared with data of Han women reported in other regions. Results The frequency of MTHFR C677 TT genotype among Han women in the region was 36. 7%,which was statistically significantly higher than that in Shangzhi（ 30. 1%）,Urumchi（ 26. 1%）,Yanbian（ 28. 3%）,Langfang（ 33. 9%）,Jingzhou（ 14. 3%）,Meishan（ 17. 7%）,Jiujiang（ 13. 0%）,Xiangtan（ 12. 6%）,Nanning（ 7. 7%）,Yinchuan（ 23. 0%）,Zhenjiang（ 21. 8%）,Kunming（ 14. 1%）,and Qionghai（ 6. 1%）（ P〈0. 05）. The frequency of MTHFR A1298 CC genotype among Han women in the region was 2. 1%,which was statistically significantly higher than that in Shangzhi（ 2. 0%）,Langfang（ 1. 9%）,and Zibo（ 1. 4%）（ P〈0. 05）,the frequency of allele was the highest（ 13. 2%）（ P〈0. 05）. The frequency of MTRR A66 GG genotype among Han women in the region was 7. 4%,which was statistically significantly lower than that in Qionghai（ 9. 3%）（ P〈0. 05）. The frequency of allele among Han women in the region was 25. 5%,which was statistically significantly lower than those in Urumchi（ 26. 1%）,Jiujiang（ 26. 4%）,Xiangtan（ 26. 4%）,and Qionghai（ 30. 9%）（ P〈0. 05）. Conclusion The distributions of MTHFR and MTRR gene polymorphisms among Han women in Guangyang District of Langfang city have significant regional specificity. To prevent the birth of children with neural tube defects,the supplementation dose and time of folic acid should be increased among the pregnant women with folic acid

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：R715.5[医药卫生—妇产科学]