遗传性非综合征性耳聋基因诊断的研究进展

摘要

Deafness is one of the major diseases which affect human health, the reasons of this disease are complex, and genetic factors cause more than 50％ of the deafness. In recent years, the continuing development of technology for gene diagnosis especially the gene chips which could detect the mutations with high -flux provided conditions for our better understanding the pathogenesis of deafness, the application of gene diagnosis and cross - correlation technique show wide prospects in prevention, diagnosis and therapy of genetic deafness. This review is focused on the latest information for molecular etiological study of nonsyndromic deafness and the development of technology for gene diagnosis which is important for accurate etiological diagnosis and genetics counseling for timely intervention and treatment options.%耳聋是影响人类健康的主要疾病，其病因复杂，遗传因素占50％以上。近年来基因诊断技术的不断发展，尤其是基因芯片等高通量检测技术的快速发展，为更好地理解耳聋的发病机制提供了条件，基因诊断及相关技术的应用在遗传性耳聋的预防、诊断及治疗方面显示出广阔的前景。该文旨在综述非综合征性遗传性耳聋分子病因学研究的最新进展以及耳聋基因诊断技术的发展，对获得准确的耳聋病因诊断和遗传咨询，以便及时干预和治疗至关重要。