| 王 蕾,王 珊,裴 培,成翕月,林 烨,张 霆.神经管畸形的表观遗传学研究进展[J].,2018,(6):1185-1188 |
| 神经管畸形的表观遗传学研究进展 |
| Advances in Epigenetics of Neural Tube Defects |
| 投稿时间：2017-03-30 修订日期：2017-04-23 |
| DOI：10.13241/j.cnki.pmb.2018.06.040 |
| 中文关键词: 神经管畸形 表观遗传学 发病机制 环境 遗传 |
| 英文关键词: Neural Tube Defects Epigenetics Pathogenesis Environments Genes |
| 基金项目:国家自然科学基金项目（81270699）；国家重点基础研究发展计划“973”项目（2013CB945404） |
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| 中文摘要: |
| 摘要：神经管畸形（neural tube defects，NTDs）是胚胎在早期发育过程中，由于神经管闭合不全或障碍引起的一组以脑和（或）脊髓发育异常为主的先天畸形。目前，对于神经管畸形的发病机制和病因没有明确的定论。很多因素参与神经管畸形的发生，主要涉及遗传、环境、以及二者的相互作用。遗传因素的研究主要着重于寻找神经管畸形的致病基因并进行基因功能缺陷研究，但是神经管畸形是多因素参与的结果，基因功能缺陷研究并不能完全解释其发病机制。基于目前的研究现状，近年来，环境因素通过调控表观遗传的修饰进而参与调节NTDs发生相关基因表达的研究逐渐受到重视。 |
| 英文摘要: |
| ABSTRACT: Neural Tube Defects are serials congenital malformations caused by the failure closure of neural tube in the early stage of embryogenesis which manifest dyplasia of brain and spinal. There has no definite conclusion on the pathogenesis and etiology of NTDs. A lot of risk factors involve in the occurrence of NTDs which include genetics, environments, and the interaction between them.The study on genetics major in seeking for the pathogenetic genes and study the functions in the development of NTDs. However, the study of gene knockout experiments can not explain the occurrence of NTDs due to the complex etiological factors. In rencent years, epigenetics play an important role in regulating relevant genes involved in NTDs. |
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