遗传 ›› 2014, Vol. 36 ›› Issue (11): 1131-1144.doi: 10.3724/SP.J.1005.2014.1131
刘亚兰1, 2, 3, 张华4, 冯永1, 2, 3
收稿日期:2014-06-26
出版日期:2014-11-20
发布日期:2014-10-28
通讯作者:
冯永,博士,教授,一级主任医师,研究方向：耳聋的临床及遗传学。E-mail: fengyong_hn@hotmail.com
E-mail:a_lan123@163.com
作者简介:刘亚兰,博士,助理研究员,研究方向：分子遗传学研究。
基金资助:Yalan Liu1, 2, 3, Hua Zhang4, Yong Feng1, 2, 3
Received:2014-06-26
Online:2014-11-20
Published:2014-10-28
摘要： 综合征型耳聋(Syndromic hearing loss, SHL)现已报道400多种,大多数发病率低,临床常见的有Waardenburg综合征(WS)、先天性小耳畸形综合征、前庭导水管扩大综合征等。因SHL具有极强的临床和遗传异质性,所以对其遗传基础及发病机制的研究变得十分困难。以SOX10和PAX3为中心的基因作用网络引起的神经嵴细胞功能异常与WS、小耳畸形及前庭导水管扩大等表型相关。本课题组前期研究也证实该基因网络参与WS的发病机制。文章针对神经嵴发育异常导致相关综合征型耳聋的发病机制的研究进展进行了系统的阐述,分析并归纳了与综合征型耳聋发病相关的神经嵴发育异常基因互作网络,以期为系统地研究常见综合征型耳聋致病基因的定位克隆以及发病机制提供研究思路和理论基础。
刘亚兰, 张华, 冯永. 神经嵴发育异常导致综合征型耳聋的机制[J]. 遗传, 2014, 36(11): 1131-1144.
Yalan Liu, Hua Zhang, Yong Feng. Progress in the study of syndromic hearing loss resulted from neural crest abnormalities[J]. HEREDITAS(Beijing), 2014, 36(11): 1131-1144.
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