与非综合征型聋相关缝隙连接蛋白31及线粒体12SrRNA基因突变

 耳聋是影响人类健康和造成人类残疾的常见疾病，它主要由遗传因素和环境因素引起。遗传性聋包括综合征型聋和非综合征型聋，其中非综合征型聋约占70%。 GJB3及线粒体12SrRNA基因突变和非综合征型聋密切相关。本文就GJB3及线粒体12SrRNA基因突变与非综合征型聋的相关性进行综述，进一步明确其发病的相关性，在明确部分非综合征型聋病因的同时，更好的为患者及其家族成员提供准确的遗传咨询和指导，为临床防聋治聋提供依据及策略。

Connexin-31 and mitochondrial 12SrRNA gene mutations associated with nonsyndromic ;hearing loss

Deafness is the common reason which affects human health and causes human disability.It is caused by genetic and environmental factors. Hereditary hearing loss include the syndromic hearing loss and nonsyndromic hearing loss. In particular,the nonsyndromic hearing loss accounts for about 70%. Mutations in the GJB3 and mitochondrial 12SrRNA are associated with nonsyndromic hearing loss. This paper reports the correlation between GJB3 and mitochondrial 12SrRNA gene mutations with nonsyndromic hearing loss. To further clarify the correlation of the disease and the causes of a part of nonsyndromic hearing loss. To provide targeted genetic counseling and guidance for patients and their families, to offer evidence and strategies for prevention and treatment.