DNA甲基化是在DNA甲基化转移酶(DNMT)的催化下,将甲基引至DNA链上的胞嘧啶,是表观遗传学的一个范畴。DNA甲基化过程如果出现异常,则会引起一些出生相关的疾病,如脆性X染色体综合征、Rett综合征,ICF综合征等,本文对其所产生的基因突变进行了分析,并对DNA甲基化异常与出生缺陷相关疾病提出预防措施。 DNA methylation is a category of epigenetics that is catalyzed by DNA methyltransferase (DNMT) to introduce methyl groups into the cytosine on the DNA strand. DNA methylation process if it is abnormal, it will cause some birth-related diseases, such as Fragile X syndrome, Rett syndrome, ICF syndrome, the gene mutations in this article were analyzed, and DNA A Prebiotic abnormalities and birth defects related diseases put forward preventive measures.