论文部分内容阅读
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 investigate the frequency distribution of 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene in Han women in Guangyang District of Langfang City, Hebei Province, Women add folic acid and prevent birth defects. Methods A total of 1 056 Han women in Guangyang District of Langfang City were investigated for the polymorphism of the MTHFR C677T, A1298C and MTRR A66G loci. The frequency distribution of the polymorphisms in the region was statistically analyzed. Han women in other areas to compare data. Results The frequencies of MTHFR C677TT genotypes in Han women (36.7%) were higher than those in Shangzhi (30.1%), Urumqi (26.1%), Yanbian (28.3%), Langfang (33.9%), Jingzhou (13.0%), Xiangtan (12.6%), Nanning (7.7%), Yinchuan (23.0%), Zhenjiang (21.8%), Kunming (14.1%) and Qionghai (6.1%). There was a statistically significant difference (P <0.05). The genotype frequency of MTHFR A1298CC was higher than that of Shangzhi (2.0%), Langfang (1.9%) and Zibo (1.4%), the difference was significant The frequency of MTRR A66GG genotype (7.4%) was lower than that of Qionghai (9.3%) (P <0.05). The allele frequency (25.5%) was lower than that of Urumqi 26.1%), Jiujiang (26.4%), Xiangtan (26.4%) and Qionghai (30.9%). There was a significant difference (P <0.05). Conclusion The frequency distribution of 5, 10 methylenetetrahydrofolate synthase and methionine synthase reductase gene in Han nationality women in Guangyang district of Langfang city is significantly regional specific. Foleytic Metabolic Disorder Due to Genetic Mutation Pregnant women need to prevent the birth of children with neural tube defects by increasing the dose of folic acid supplementation and prolonging the duration of overdosing.