基因芯片技术在非综合征性耳聋基因诊断中的应用

张旭; 陈晓巍; 姜鸿

doi:10.3969/j.issn.1674-9081.2012.02.011

基因芯片技术在非综合征性耳聋基因诊断中的应用

Application of DNA Microarray in Rapid Genetic Diagnosis of Nonsyndromic Hearing Loss

摘要

摘要:
目的探讨耳聋基因芯片诊断技术在非综合征性耳聋基因诊断中应用的可行性。
方法对北京协和医院耳鼻咽喉科133例极重度感音神经性耳聋患者采集外周静脉血样, 选用遗传性耳聋基因芯片检测试剂盒对热点致聋基因GJB2(35 del G、176 del 16、235 del C、299 del AT)、GJB3(538C > T)、SLC26A4(IVS7-2A > G、2168A > G)和线粒体12S rRNA(1494C > T、1555A > G)共9个热点突变位点进行检测, 并使用PCR直接测序的方法进行验证。
结果 133例受检者中, GJB2、GJB3、SLC26A4和线粒体12S rRNA的阳性检出率分别为20.3%、0、21.8%和1.5%, 总阳性检出率为43.6%, 与样本直接测序验证的符合率为100%。
结论遗传性耳聋基因芯片检测系统具有检出率高、准确性高、高通量、判读方便等特点, 适用于临床大规模筛查和辅助诊断, 是非综合征性遗传性耳聋检测的有效方法。

Abstract:
Objective To evaluate the feasibility of DNA microarray as a rapid genetic diagnosis technique in nonsyndromic hearing loss.
Methods Totally 133 patients with profound nonsyndromic sensorineural hearing loss admitted to the Department of Otorhinolaryngology of Peking Union Medical College Hospital were enrolled in this study. Their peripheral blood samples were taken and tested using Hearing Loss Array Kit (gene chip). Nine hot mutation sites including GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), GJB3 (538C > T), SLC26A4 (IVS7-2A > G, 2168A > G), and mitochondrial 12S rRNA (1494C > T, 1555A > G) were detected. Accuracy of the detection results was tested by DNA sequence analysis with PCR.
Results The positive rate of GJB2, GJB3, SLC26A4, and mitochondrial 12S rRNA gene were 20.3%, 0, 21.8%, and 1.5%, respectively, and the overall positive rate in this cohort was 43.6%. DNA sequence analysis showed 100% coincidence with DNA microarray results.
Conclusions The Hearing Loss Array Kit has a high positive detection rate. It is characterized by being rapid high-flux sensitive, high specific, and easy to judgment, which make it possible and promising in future screening and diagnosis in patients with sensorineural hearing loss.

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