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. ......