基因panel测序在耳聋基因检测中的应用

摘要

Over 220 deafness genes have been detected since the DNA sequencing technique was used to detect molecular etiology of hereditary hearing loss. From the advent of Sanger sequencing, DNA sequencing technology has undergone nearly 40 years of development. As a congenital disease, hereditary hearing loss focuses on deafness prevention. Gene panel is a common target gene sequencing tool that can detect target deafness gene mutations. This article is to review the application status and shortcomings of gene panel in deafness gene sequencing.%自DNA测序技术应用在遗传性聋的分子病因检测以来,已经发现超过220个耳聋基因.从Sanger测序法诞生至今,DNA测序技术经历了近40年的发展史.遗传性聋作为一种先天疾病,重在预防.基因panel是一种常用的目标基因测序工具,可以发现目标耳聋基因突变位点.本文将从基因panel在耳聋基因检测中应用情况及其缺点进行综述.