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目的探讨亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)在吉林省汉族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。方法从吉林省的汉族女性中随机选取375例进行叶酸代谢障碍遗传检测,检测MTRR A66G、MTHFR C677T和MTHFRA1298C的基因多态性,将中国已报道地区数据与该地区的数据相比较。结果吉林省汉族女性的MTHFR 677TT基因型频率28.0%低于济源的37.4%(P<0.01),T等位基因频率54.0%低于廊坊的58.3%及济源的61.4%,P值均<0.05;MTHFR 1298CC基因型频率3.7%低于德阳的6.3%、湘潭的4.8%、惠州的7.2%和琼海的7.1%,P值均<0.05,C等位基因频率的16.4%低于德阳的21.8%、湘潭的21.8%及惠州的22.8%,P值均<0.01;MTRR66AA基因型频率5.9%低于琼海的9.3%,P<0.01,G等位基因频率25.1%低于琼海的30.9%,P<0.01。结论吉林省汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性,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 frequency characteristics of MTHFR and MTRR gene polymorphisms in Han women in Jilin Province to guide the primary prevention of folic acid supplementation and birth defects in pregnant women . Methods Randomly selected 375 Han women from Jilin Province to detect the genetic dysfunction of folic acid. The gene polymorphisms of MTRR A66G, MTHFR C677T and MTHFRA1298C were detected, and the reported data of China were compared with the data of the region. Results The frequency of MTHFR 677TT genotype in Han nationality was 28.0% lower than that in Jiyuan (37.4%) (P <0.01). The frequency of T allele was 54.0% lower than that of Langfang 58.3% and Jiyuan 61.4% (P <0.05) MTHFR 1298CC genotype frequencies were 3.7% lower than 6.3% in Deyang, 4.8% in Xiangtan, 7.2% in Huizhou and 7.1% in Qionghai with P values <0.05 and 16.4% of the C allele less than 21.8% , 21.8% in Xiangtan and 22.8% in Huizhou, P <0.01; the frequency of MTRR66AA genotype 5.9% was lower than that of Qionghai 9.3%, P <0.01, the frequency of G allele 25.1% was lower than Qionghai 30.9% P <0.01. Conclusion The frequency distribution of MTHFR and MTRR gene polymorphism in Han nationality in Han nationality in Jilin Province is regionally specific. It is necessary to prevent the birth of children with neural tube defects by increasing the dosage and time of folic acid supplementation in prenatal women with genetic dysfunction of folic acid metabolism.