女性MTHFR、MTRR基因型和等位基因频率分布与其他地区女性的比较  

Study on disease susceptibility gene MTHFR and MTRR in Chinese women of Tianjin

作　　者：谢晓媛[1] 冷俊宏[1] 鲁衍强 薛琰 辛力[1] 张颖[3] 

机构地区：[1]天津市妇女儿童保健中心,天津300070 [2]上海靶向分子医学研究所 [3]天津医科大学总医院

出　　处：《中国优生与遗传杂志》2016年第3期12-14,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨易感基因MTHFR、MTRR在天津市女性中基因多态性的频率特征,以指导孕妇增补叶酸和出生缺陷一级预防。方法选取天津市467名女性检测MTHFR C677T、A1298C和MTRR A66G基因多态性,分析本地区基因多态性的频率特征,并与中国已报道地区进行比较。结果天津市女性的MTHFR 677TT基因型频率(26.7%),高于惠州(10.9%)和琼海(6.1%)(P均<0.01),T等位基因频率(53.4%)高于惠州(29.5%)和琼海(22.1%)(P均<0.05);MTHFR 1298CC纯合突变基因型频率(4.3%)低于琼海(7.1%)(P<0.05);MTRR 66GG纯合突变基因型频率(6.1%)低于琼海(9.3%)(P<0.05),G等位基因频率(23.9%)小于琼海(30.9%)(P<0.05)。结论天津女性MTHFR和MTRR基因多态性频率分布具有地域特异性,对于叶酸代谢障碍有风险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 methylenetetrahydrofolate reductase（MTHFR）C677T,A1298 C and methionine synthase（MTRR）A66G gene polymorphisms among Chinese women in Tianjin city. To guide supplement folic acid and birth defects in primary prevention. Method：467 samples were recruited from Tianjin city,Genomic DNA was obtained from the oral mucosa cells. 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 were reported. Results：Among the women in Tianjin,the frequency of the MTHFR 677 TT genotypes（26.7%）was higher than in Huizhou（10.9%）and Qionghai（6.1%）,（P〈0.01）. Which（53.4%）allele frequency was higher than that in Huizhou（29.5%）and Qionghai（22.1%）（all P〈0.05）;The frequency of the MTHFR 1298 CC genotypes（4.3%）was lower than in Qionghai（7.1%）merely（P〈0.05）;The frequency of the MTRR A66 G genotypes（6.1%）was lower than Qionghai（9.3%）（P〈0.05）.Which（23.9%）allele frequency was lower than Qionghai（30.9%）（P〈0.05）. Conclusion：The gene polymorphisms distributions of MTHFR and MTRR among the women in Tianjin were found to be statistically different from partial other regions of China. For the childbearing age women suffered with folate metabolism,they need to increase the dose and time of folic acid to prevent neural tube defects in children born.

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：R394[医药卫生—医学遗传学]