[河南省原因不明感音神经性听力损失中SLC26A4基因2168A>G突变的分子遗传学分析]
[Molecular genetic analysis of SLC26A4 2168A > G mutations in sensorineural hearing loss with unknown reason in Henan province].
作者信息
Zhu Yunhua, Neng Lingling, Li Meisheng, Dong Mingmin
机构信息
Department of Otolaryngology, Shangqiu First People's Hospital, Shangqiu 450052, China.
出版信息
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008 Nov;22(22):1026-7, 1031.
OBJECTIVE
To survey the etiology of sensorineural hearing loss with unknown reason and the incidence of the mutation of SLC26A4 2168A > G in Henan province.
METHOD
The evaluation of hearing loss, etiologic survey, the molecular genetic analysis and temporal bone CT examination for genes common to hereditary hearing disorders were performed in 95 hearing-impaired patients in Henan province.
RESULT
In the deafness group, the incidence of large vestibular aqueduct syndrome (LVAS) which correlates with SLC26A4 2168A > G is 6.32%. The incidence of the gene diagnosis conformed to the clinical one is 83.3%.
CONCLUSION
There is a high incidence of SLC26A4 2168 A > G mutation in sensorineural hearing loss with unknown reason. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
目的
调查河南省原因不明的感音神经性听力损失的病因及SLC26A4基因2168A＞G突变的发生率。
方法
对95例河南省听力障碍患者进行听力损失评估、病因调查、分子遗传学分析以及针对遗传性听力障碍常见基因的颞骨CT检查。
结果
在耳聋组中，与SLC26A4基因2168A＞G相关的大前庭导水管综合征（LVAS）的发生率为6.32%。基因诊断与临床诊断相符的发生率为83.3%。
结论
在原因不明的感音神经性听力损失中，SLC26A4基因2168A＞G突变的发生率较高。对这些突变进行分子遗传学筛查和遗传咨询是预防遗传性听力损失发生的有效方法。
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