CAJ | 학술논문

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。
목적：험증십오항유전성이롱기인검측시제합（미진렬심편법）재림상이롱기인검측적준학성급유효성。방법채용420예해방군총의원림상문진병인혹주원병인적전혈，기중미휴대돌변적양본103례，휴대기인돌변양본317례，포괄50례대전정수관종합정환자；대혈양진행수궤편맹，병용십오항유전성이롱기인검측심편검측，이구항유전성이롱기인검측시제합（미진렬심편법）급측서법작위대비방법진행비교。결과검측결과현시，본조병인양본적각위점검측탐침적령민도체100%，특이성체100%，여대비방법적검측결과일치성체100%；경χ2검험화Kappa치분석，량충방법적검측결과무현저성차이，일치성교호。결론십오항유전성이롱기인검측시제합（미진렬심편법）적림상검측결과은정、가고，통량교고，기본만족림상유전성이롱기인검측수구，병진일보제고대전정수관종합정（EVAS）환자적양성검출솔화학진솔。
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%,χ2 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.