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目的研究叶酸代谢障碍遗传风险分布地域性特征与佛山市南海区汉族女性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)基因的多态性频率特征,以指导育龄妇女增补叶酸及出生缺陷一级预防。方法随机选取2014年9月-2015年7月佛山市南海区503位汉族女性,检测其MTHFR C677T、A1298C及MTRR A66G基因位点多态性,分析该地区基因的多态性分布特征。结果佛山市汉族女性MTHFR 677TT基因型频率(7.6%)低于淄博(43.6%)、尚志(30.1%)、乌鲁木齐(26.1%)、延边(28.3%)、廊坊(33.9%)、银川(23.0%)、济源(37.4%)、镇江(21.8%)、荆州(14.3%)、眉山(17.7%)、九江(13.0%)、湘潭(12.6%)、昆明(14.1%),差异均有统计学意义(P<0.01);等位基因频率(25.5%)高于南宁(24.1%)和琼海(22.1%),差异有统计学意义(P<0.05);MTHFR 1298CC基因型频率(6.6%)高于淄博(1.4%)、尚志(2.0%)、延边(3.8%)、廊坊(4.9%)、银川(3.4%)、济源(2.0%)、镇江(3.5%)、荆州(3.2%)、眉山(3.5%)、九江(3.7%)、昆明(2.7%),差异有统计学意义(P<0.05);等位基因频率(24.5%)最高(P<0.05);MTRR 66GG基因型频率(5.8%)低于琼海(9.3%),差异有统计学意义(P<0.01),等位基因频率(26.2%)低于琼海(30.9%),差异有统计学意义(P<0.01)。结论佛山市南海区汉族女性MTHFR及MTRR基因的多态性频率分布具有地区特异性。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 study the geographical distribution of genetic risk of folic acid metabolism disorders and the polymorphism of MTHFR and MTRR genes in Han women in Nanhai District of Foshan City Frequency characteristics, to guide women of childbearing age to add folic acid and birth defects a primary prevention. Methods A total of 503 Chinese Han women from Nanhai District of Foshan City from September 2014 to July 2015 were randomly selected to detect the polymorphisms of MTHFR C677T, A1298C and MTRR A66G loci, and to analyze the distribution characteristics of the polymorphisms of the genes in this area. Results The frequency of MTHFR 677TT genotype in Foshan Han women was lower than that of Zibo (43.6%), Shangzhi (30.1%), Urumqi (26.1%), Yanbian (28.3%), Langfang (33.9%) and Yinchuan , Jiyuan (37.4%), Zhenjiang (21.8%), Jingzhou (14.3%), Meishan (17.7%), Jiujiang (13.0%), Xiangtan (12.6%) and Kunming (14.1%). The differences were statistically significant (P <0.01). The allele frequency (25.5%) was higher than that of Nanning (24.1%) and Qionghai (22.1%) (P <0.05). The genotype frequency of MTHFR 1298CC was 6.6% In Zibo (1.4%), Shangzhi (2.0%), Yanbian (3.8%), Langfang (4.9%), Yinchuan (3.4%), Jiyuan (2.0%), Zhenjiang (3.5%), Jingzhou (3.2% (3.5%), Jiujiang (3.7%) and Kunming (2.7%), the difference was statistically significant (P <0.05); the allele frequency was the highest (24.5% %) Was lower than that of Qionghai (9.3%), the difference was statistically significant (P <0.01). The allele frequency (26.2%) was lower than Qionghai (30.9%), the difference was statistically significant (P <0.01). Conclusion The frequency distribution of MTHFR and MTRR genes in Han nationality women in Nanhai District of Foshan City is regionally specific. Pregnancy women with a genetic disorder that causes folate metabolism need to prevent births in children with neural tube defects by increasing the dose and timing of folic acid supplementation.