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出生缺陷可给个人、家庭、社会带来沉重的疾病负担,其发病机制复杂,常由遗传因素与环境因素交互作用产生。孕母体内叶酸水平是影响子代出生缺陷发生率的重要因素,可由叶酸摄入和体内代谢途径共同决定。亚甲基四氢叶酸还原酶(MTHFR)基因多态性可影响其活性,使得叶酸体内代谢途径发生改变,并引起同型半胱氨酸的蓄积,导致子代出生缺陷的发生,是近年来研究的热点。本研究主要通过对在我国具有重要意义的三大出生缺陷(神经管畸形、先天性心脏病、非综合征性唇腭裂)与MTHFR基因多态性相关性的研究情况及结果进行综述,为今后的研究提供参考。
Birth defects can bring heavy burden of disease to individuals, families and society. Its pathogenesis is complicated and often caused by the interaction of genetic factors and environmental factors. The level of folic acid in pregnant mothers is an important factor that affects the incidence of birth defects in offspring. It can be determined by folic acid intake and in vivo metabolic pathways. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism can affect its activity, making the metabolic changes in folic acid metabolism, and cause the accumulation of homocysteine, resulting in the generation of birth defects, is a recent study Hot spots. This study mainly summarizes the research situation and the results of the correlation between MTHFR gene polymorphisms and the three major birth defects (neural tube defects, congenital heart disease, non-syndromic cleft lip and palate) which have great significance in our country, Provide a reference for the research.