X连锁综合征型耳聋的分子遗传学研究进展  

Advance in molecular genetic research on X-linked syndromic hearing impairment

作　　者：黄懋敏 张丁丁[2] 

机构地区：[1]遵义医学院免疫学教研室,贵州563000 [2]四川省医学科学院·四川省人民医院人类疾病基因研究四川省重点实验室,成都610072

出　　处：《中华医学遗传学杂志》2017年第6期928-931,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81470667,81271049）;四川省科技计划项目（2016SZ0022）

摘　　要：综合征型耳聋患者除有听力障碍外，还常伴有泌尿系统、骨骼肌肉系统、神经系统及眼部的病变。遗传因素在这类耳聋的发病中扮演重要的角色。X染色体上的基因突变可导致综合征型耳聋。基因定位策略、连锁分析、新一代测序等技术为X连锁综合征型耳聋的疾病机制研究提供了帮助。本文就部分X连锁综合征型耳聋的分子遗传学研究的进展进行综述，以期为这类耳聋的诊疗带来新的思路。In addition to hearing impairment, syndromic hearing impairment is often accompanied by disorders of urinary, skeletal, muscular, nervous, and ocular systems. Genetic factors have shown to play an important role in the pathogenesis of deafness. Mutations of X-linked genes may cause syndromic hearing impairment. Gene mapping, linkage analysis and next-generation sequencing may facilitate delineation of the pathogenesis of X-linked syndromic hearing impairment. This article reviews recent progress in molecular genetic research on X-linked syndromie hearing impairment, which may shed light for the diagnosis and treatment of these diseases.

关 键 词：综合征性耳聋 X-连锁 遗传因素 分子遗传学 基因检测 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]