神经管缺陷的遗传基础。I. 神经胚形成过程的调控基因。

Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process.

作者信息

Gos Monika, Szpecht-Potocka Agnieszka

机构信息

Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland.

出版信息

J Appl Genet. 2002;43(3):343-50.

PMID:12177524

Abstract

Neural tube defects (NTD) together with cardiovascular system defects are the most common malformations in the Polish population (2.05-2.68/1000 newborns). They arise during early embryogenesis and are caused by an improper neural groove closure during the neurulation process. NTD can arise from the influence of specific environmental factors on the foetus. The genetic factor is also very important, because NTDs have multigenetic conditioning. It was suggested that genes connected with the regulation of neurulation could also be involved in NTD aetiology, especially when their deletion or modification leads to neural tube defects in the mouse model. Examples are genes from the PAX family, T (Brachyury), BRCA1 and PDGFRA genes.

摘要

神经管缺陷（NTD）与心血管系统缺陷是波兰人群中最常见的畸形（每1000例新生儿中有2.05 - 2.68例）。它们在胚胎发育早期出现，是由神经胚形成过程中神经沟闭合不当引起的。NTD可能源于特定环境因素对胎儿的影响。遗传因素也非常重要，因为NTD具有多基因调控。有人提出，与神经胚形成调节相关的基因也可能参与NTD的病因学，特别是当它们的缺失或修饰导致小鼠模型出现神经管缺陷时。例如PAX家族基因、T（短尾）基因、BRCA1基因和PDGFRA基因。