摘要
耳聋是严重影响人类生存质量的致残性疾病,先天性耳聋多由遗传因素导致。遗传性耳聋包括综合征型耳聋和非综合征型耳聋,其中非综合征型耳聋约占70%,分子诊断技术是目前检测遗传性耳聋的主要方法。本文对我国非综合征型遗传性耳聋致病基因及耳聋的分子诊断技术进行简述。
Deafness is a seriously disabling disease affecting the quality of human life and congenital deafness most caused by genetic factors. Hereditary hearing loss includes the syndromic hearing impairment（SHI）and non-syndromic hearing impairment（NSHI）,NSHI accounts for about 70%,Molecular diagnostic technique is the main method to detect hereditary hearing loss. In this review we will focus on pathogenic gene and diagnosis of NSHI.
出处
《中国优生与遗传杂志》
2015年第2期125-127,共3页
Chinese Journal of Birth Health & Heredity
关键词
遗传性耳聋
致病基因
非综合型耳聋
分子诊断
Hereditary hearing loss
Pathogenic gene
Non-syndromic hearing impairment
Molecular diagnosis
