马小玲 潘丽华 刘倩

[摘要] 遗传性耳聋是由于基因突变和染色体异常所导致的，是人类最常见的出生缺陷之一。在我国新生儿中，重度以上的先天性聋儿所占比例为0.1%～0.3%，其中90%以上的耳聋患儿出生于听力正常的家庭，因此对有耳聋家族史或已生育过耳聋患儿的家庭开展产前诊断是必不可少的，对于正常听力人群耳聋基因的筛查同样具有重要意义。目前，人类发现的遗传性耳聋基因多种多样，其又具有人种及地区的特异性，本文将几种在我国常见的和最新出现的耳聋基因及突变位点在遗传性耳聋发病中的作用分别进行阐述。

[关键词] 遗传性耳聋;基因突变;MYO7A;TECTA

[Abstract] Hereditary deafness is caused by genetic mutations and chromosomal abnormalities， and is one of the most common birth defects in humans. Among newborns in China， the proportion of children with severe congenital deafness or even severer is 0.1%-0.3%， and more than 90% of deaf children were born in families with normal hearing. Therefore， it is essential to carry out prenatal diagnosis for families who have a family history of deafness or have given birth to children with deafness. The screening of deafness genes for people with normal hearing is also of great significance. At present， the hereditary deafness genes found in humans are diverse， and they are specific to race and region. In this article，several common and newly emerging deafness genes and mutation site in the pathogenesis of hereditary deafness are described separately.

[Key words] Hereditary deafness; Gene mutation; MYO7A; TECTA

耳聾的致病因素主要有遗传因素和环境因素两个方面，而与遗传因素相关的耳聋超过60%[1]。这其中约70%的患者为非综合征型耳聋（Nonsyndromic hearing loss，NSHL）[2]，30%为综合征型耳聋（Syndromic hearing loss，SHL）[3]，SHL除了耳聋还有眼、骨、肾等其他系统的病变，而NSHL仅有耳聋。目前已经克隆的非综合征型耳聋基因有117种，共包含常染色体隐性遗传70种，按染色体位点命名为DFNB，其遗传特点是基因中两个等位基因异常会出现疾病表型，男女受累的机会均等;常染色体显性遗传40种，按染色体位点命名为DFNA，其遗传特点是基因中只要有一个等位基因异常就能导致疾病发生，呈垂直传递，50%的子女均有发病可能性;X连锁遗传5种，按染色体位点命名为DFN;线粒体遗传2种[4]。

中国最常见的遗传性非综合征型耳聋基因是GJB2、SLC26A4、线粒体12s rRNA、GJB3，还有最新发现的MYO7A及TECTA基因，本文将对以上耳聋基因致病的作用及如何干预分别进行阐述。……