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出生缺陷严重影响出生人口素质,成为我国重大公共卫生问题。遗传因素、环境因素,以及二者的相互作用是导致出生缺陷发生的直接原因。以神经管畸形为例,分别从遗传易感性、表观遗传学改变、代谢组学特征及环境危险因素四个方面深入介绍了出生缺陷的发病机制;采用系统生物学观点和宏观社会科学相结合的手段,以科学理论为指导,科学技术为支撑,通过多角度,多层面相联合的方法,探讨我国出生缺陷三级预防发展的新趋势。
Birth defects seriously affect the quality of the birth population and become a major public health problem in our country. Genetic factors, environmental factors, and the interaction between the two is the direct cause of birth defects. Taking neural tube defects as an example, the pathogenesis of birth defects were introduced in depth from four aspects: genetic predisposition, epigenetic changes, metabonomics characteristics and environmental risk factors. The combination of systemic biology and macro-social science . With scientific theories as the guide and science and technology as the support, we will explore the new trend of tertiary prevention and control of birth defects in our country through multi-angle and multi-faceted methods.