眼-耳-脊柱序列征的遗传学研究现状

摘要

Oculo-auriculo-vertebral spectrum (OAVS)is one of common birth defects,which involves primarily optical,aural,maxillomandibular and spinal abnormal development.To date,the hereditary basis of OAVS has been generally accepted,but the responsible gene remains unclear.This article reviewed the possible etiology of OAVS in chromosome analysis,genome copy number detection,gene identification and mouse model,and analyzed the strategy for OAVS research.%眼-耳-脊柱序列征(oculo-auriculo-vertebral spectrum,OAVS)是临床常见的出生缺陷,主要累及眼、耳、上下颌及脊柱等.目前,OAVS的遗传基础已被公认,但致病基因尚未明确.从染色体分析、基因组拷贝数检测、致病基因鉴定和小鼠模型对OAVS的可能病因进行综述,并对OAVS的研究策略进行了分析和展望.