药物性耳聋相关线粒体12S rRNA突变

张旭; 田永胜; 陈晓巍; 姜鸿

doi:10.3969/j.issn.1674-9081.2012.02.012

药物性耳聋相关线粒体12S rRNA突变

Mitochondrial 12S rRNA Mutations Related to Drug-induced Hearing Loss

摘要

摘要:
目的探讨极重度非综合征性耳聋患者线粒体DNA(mitochondrial DNA, mtDNA)1555A > G和1494C > T突变情况。
方法选取黑龙江省佳木斯地区聋哑学校学生和北京协和医院门诊散发的极重度感音神经性耳聋患者共208例作为研究对象, 使用基因芯片方法和限制性内切酶法对其mtDNA 1555和1494两个位点进行检测, 并用直接测序的方法进行验证。
结果 208例患者中共发现1555A > G突变者10例, 该突变的携带率为4.81%;未发现1494C > T突变。
结论 mtDNA 1555A > G突变在极重度非综合征性耳聋患者中阳性率较高, 而在汉族人群中1494C > T突变较为罕见。

Abstract:
Objective To investigate the prevalence of mitochondrial DNA (mtDNA) 1555A > G and 1494C > T mutations in patients with profound nonsyndromic hearing loss.
Methods We enrolled 208 patients with profound nonsyndromic sensorineural hearing loss in this study, including 108 patients from the Special Education School of Jiamusi of Heilongjiang Province and 100 outpatients from Peking Union Medical College Hospital. DNA microarray and restriction enzyme assays were used to detect the mtDNA mutations of 1555A > G and 1494C > T, and accuracy of the detection results was tested by DNA sequence analysis.
Results The detection rates of mtDNA 1555A > G and mtDNA 1494C > T mutations were 4.81% (10/208) and 0 (0/208), respectively.
Conclusion MtDNA 1555A > G mutation has a high detection rate among patients with profound nonsyndromic hearing loss, whereas mtDNA 1494C > T mutation is rare in Chinese populations with hearing loss.

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