中国育龄期女性MTHFR、MTRR基因型与出生缺陷对沧州地区叶酸增补的借鉴分析

Reference of MTHFR and MTRR genotypes and birth defects in Chinese women of childbearing age to folic acid supplementation in Cangzhou area

目的分析中国育龄期女性MTHFR、MTRR基因型与出生缺陷对沧州地区叶酸增补的借鉴。方法收集中国不同地区有关育龄期女性MTHFR、MTRR基因多态性分布特征的文献,分析各地区育龄期女性的基因构成分布、基因突变导致的叶酸代谢障碍、出生缺陷、叶酸增补方案等。同时以笔者所处沧州地区为例,分析其他地区叶酸增补方案如何有效借鉴运用于沧州地区育龄期女性叶酸增补工作中。结果不同地区育龄期女性在MTHFR、MTRR基因多态性分布上面存在较大差异;沧州地区育龄期女性MTHFR基因677位点纯合突变TT连锁1 298位点野生型占到了多态性的多数,其次是677位点杂合型突变连锁1 298位点野生型,沧州地区近年来出生缺陷仍占较高比例,建议从饮食、健康宣教、个体化增补叶酸等方面加强干预。结论结合基因多态性检测结果指导育龄期女性合理补充叶酸,是促进优生优育的重要措施。

Objective To analyze the MTHFR and MTRR genotypes and birth defects in Chinese women of childbearing age for reference to the folic acid supplementation in Zhangzhou area. Methods The literatures on the distribution of MTHFR and MTRR gene polymorphisms in women of childbearing age in different regions of China from 2014 to 2018 were collected. The distribution of genes in women of childbearing age in China, folate metabolism disorders caused by gene mutation, and birth defects were analyzed. The program on folic acid supplementation plan was evaluated. In addition, taking the author′s Changzhou area as an example, a practical application was proposed on how the folic acid supplementation program in other areas can be effectively used in the folic acid supplementation of women of childbearing age in Changzhou area. Results There were significant differences in the distribution of MTHFR and MTRR gene polymorphisms among women of childbearing age in different regions. The MTHFR gene 677 locus homozygous TT genotype linkage with 1298 locus wild type accounted for the majority of polymorphisms in women of childbearing age, whilefollowed by the polymorphism of 677-site heterozygous genotype linkage with wild type of 1 298 locus. The birth defects in Changzhou area still accounted for a high proportion in recent years. It is recommended to strengthen intervention from diet, health education, and individualized folic acid supplementation. Conclusion Combining the results of gene polymorphism detection to guide women of childbearing age to properly supplement folic acid is an important measure to promote prenatal and postnatal care.