非综合征性耳聋的研究进展

Research Progress of Non-syndromic Hearing Impairment

非综合征性耳聋是最常见的感音神经性聋,既可表现为人群中的散发,也可表现为家族中的多发。因此,对非综合征性耳聋人群突变热点基因进行早期筛查、早期诊断,有助于对其家族内的母系成员早期预防和实施干预,有效地防止新的患儿出生,提高人口素质。现就非综合征性耳聋人群的突变热点基因与非综合征性耳聋相关性的研究进展予以综述。

The non-syndrome of deafness is the most common sensorineural deafness, which may be dis- persed in the crowd or multiple occurrence in family. Therefore, early screening, early diagnosis of hot gene mutations in non-syndromic deaf people, can realize early intervention and prevention from the family mem- bers of the matriarchal society, to effectively prevent deaf new-borns and improve population quality. Here is to make a brief review on the research progress of the correlation between hot gene mutations and non-syn- dromic deafness.