论文部分内容阅读
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 frequency characteristics of genetic polymorphisms of MTHFR and MTRR in Tianjin women so as to guide the primary prevention of folic acid supplementation and birth defects in pregnant women. Methods Totally 467 Chinese women were tested for MTHFR C677T, A1298C and MTRR A66G polymorphisms. The frequency characteristics of genetic polymorphisms in this region were analyzed and compared with those reported in China. Results The frequency of MTHFR 677TT genotype (26.7%) in Tianjin women was higher than that in Huizhou (10.9%) and Qionghai (6.1%) (P <0.01). The frequency of T allele (53.4% (P <0.05); MTHFR 1298CC homozygous mutant genotype frequency (4.3%) was lower than Qionghai (7.1%) (P <0.05); MTRR 66GG homozygous mutation genotype frequency (6.1%) was lower than Qionghai (9.3%) (P <0.05). The G allele frequency (23.9%) was less than Qionghai (30.9%) (P <0.05). Conclusion The frequency distribution of MTHFR and MTRR gene polymorphism in Tianjin women is regionally specific. Pregnant women who are at risk for folic acid metabolism need to prevent the birth of children with neural tube defects by increasing the dosage and time of folic acid supplementation.