中国成年女性一碳单位代谢通路关联基因多态性位点地域分布特征

目的对中国16个省和2个直辖市的成年女性MTHFR和MTRR基因多态性分布特征进行分析,描绘一碳单位代谢通路关联的MTHFR C677T、 MTHFR A1298C和MTRR A66G基因多态性位点在中国的整体分布形态。方法在中国知网、万方数据库、维普中文科技期刊数据库、百度学术上,搜索关键词为"MTHFR"、"MTRR"、"女性"、"基因单核苷酸多态性"的中文文献。纳入的文献可以提供各种基因型对应成年女性的人数,或通过所提供的基因型频率可以计算出对应成年女性的人数。两人分工协作完成数据提取工作,并将提取到的数据以省或直辖市为单位进行合并,计算出各个省及直辖市各种基因型及等位基因分布频率。结果中国成年女性MTHFR 677TT基因型和677T等位基因频率自南向北逐渐稳固升高。MTHFR 1298CC在中国成年女性中占比极小。A1298C和C677T基因两者呈现连锁不平衡,TT/AA基因频率分布特征呈现出自北向南逐渐降低的趋势,在全国范围内TT/AC、 TT/CC和CT/CC的基因型频率均为0。MTRR 66AA在中国成年女性群体中占34%~58%,北部略高于南部;MTRR 66GG占5%~17%。结论基因多态性的风险评估可纳入针对神经管缺陷的一级预防措施。

Geographical distribution characteristics of one carbon metabolic pathway related single nucleotide polymorphisms

OBJECTIVE To analyze geographical distribution characteristics of folate metabolism related single nucleotide polymorphisms. METHODS This work made a statistical analysis of MTHFR and MTRR gene polymorphism distribution about Chinese Han and minority childbearing age women in 16 provinces and 2 municipalities from 64 published Chinese literatures, depicted the regional distributive characteristics of the two gene polymorphisms, and analyzed the association with neural tube defects status for a long time in China. RESULTS By summarizing and analyzing single nucleotide polymorphisms of MTHFR C677 T in Chinese Han and minority childbearing age women in 16 provinces and 2 municipalities, the results showed that MTHFR 677 TT and 677 T allele frequency increased steadily from south to north, MTHFR 1298 CC occupied a very small proportion. Through interaction analysis of A1298 C and C677 T, the result showed that two genes presented a linkage imbalance, and TT/AA frequency distribution presented a gradually decreasing trend from north to south, and there were no TT/AC, TT/CC, and CT/CC nationwide, it was found that MTRR 66 AA accounted from 34% to 58%, with the northern part slightly higher than the southern part. And MTRR 66 GG was between 5% and 17%.CONCLUSION We could pay attention to gene polymorphism risk assessment to reduce neural tube defects for childbearing age women, in order to provide powerful human genetics data support for improving the birth population quality and national public health policy.