十五项遗传性耳聋基因突变微阵列诊断芯片的临床应用研究

Clinical Application of DNA microarray in rapid genetic diagnosis of non- syndromic heaing loss

目的验证十五项遗传性耳聋基因检测试剂盒(微阵列芯片法)在临床耳聋基因检测的准确性及有效性。方法采用420例解放军总医院临床门诊病人或住院病人的全血,其中未携带突变的样本103例,携带基因突变样本317例,包括50例大前庭水管综合征患者;对血样进行随机编盲,并用十五项遗传性耳聋基因检测芯片检测,以九项遗传性耳聋基因检测试剂盒(微阵列芯片法)及测序法作为对比方法进行比较。结果检测结果显示,本组病人样本的各位点检测探针的灵敏度达100%,特异性达100%,与对比方法的检测结果一致性达100%;经χ2检验和Kappa值分析,两种方法的检测结果无显著性差异,一致性较好。结论十五项遗传性耳聋基因检测试剂盒(微阵列芯片法)的临床检测结果稳定、可靠,通量较高,基本满足临床遗传性耳聋基因检测需求,并进一步提高大前庭水管综合征(EVAS)患者的阳性检出率和确诊率。

Objectives To verify the clinical validity and accuracy of DNA microarray kit for genetic testing of 15 target deafness mutations. Methods The whole blood samples from 420 outpatients or inpatients with or without deafness were test- ed using sequencing and DNA microarray kit which is authenticated by SFDA. Among them, 103 cases were wild type and 317 cases carrying mutations including 50 enlarged vestibular aqueduct syndrome （EVAS） patients. Results The sensitivity and specificity of the microarray reaches 100%, and the consistency of that with the control methods keeps 100%, X2 test and Kap- pa shows no significant difference between them and confirms its perfect consistency. Conclusion The DNA microarray kit for genetic testing of 15 target deafness mutations has the features of high performance and clinical validity, which makes it fit to be used in clinic gene testing. Because of its higher positive detection rate, and therefore it has advantage in genetic diagnosis of EVAS patients.