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
发布时间：2019-06-20 06:50
【摘要】：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。
[Abstract]:Objective to verify the accuracy and effectiveness of fifteen genetic deafness gene detection kits (microarray chip method) in clinical deafness gene detection. Methods the whole blood of 420 clinical outpatients or inpatients in PLA General Hospital was used, including 103 samples without mutation and 317 samples carrying gene mutation, including 50 patients with large vestibular aqueduct syndrome. The blood samples were randomly blinded and detected by 15 genetic deafness gene detection microchips. Nine hereditary deafness gene detection kits (microarray chip method) and sequencing methods were compared. Results the results showed that the sensitivity and specificity of the probes were 100% and 100%, respectively, which were consistent with those of the comparative method, and there was no significant difference between the two methods by Chi ~ 2 test and Kappa value analysis, and the consistency between the two methods was good. Conclusion the clinical detection results of fifteen genetic deafness gene detection kits (microarray chip method) are stable, reliable and fluxes, which basically meet the needs of clinical hereditary deafness gene detection, and further improve the positive rate and diagnostic rate of (EVAS) patients with large vestibule aqueduct syndrome.
【作者单位】： 解放军总医院耳鼻咽喉头颈外科;博奥生物有限公司暨生物芯片北京国家工程研究中心;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098);国家自然科学基金青年项目(No.81000415) 国家科技支撑计划项目(No.2012BAI09B02) 国家重点基础研究发展计划(973计划)(No.2014CB541706) 科技部863计划(No.2012AA020101) 国家卫生行业科研专项项目(No.201202005) 北京市科技新星计划(No.2010B081,2009B34)
【分类号】：R764.43
[Abstract]:Objective to verify the accuracy and effectiveness of fifteen genetic deafness gene detection kits (microarray chip method) in clinical deafness gene detection. Methods the whole blood of 420 clinical outpatients or inpatients in PLA General Hospital was used, including 103 samples without mutation and 317 samples carrying gene mutation, including 50 patients with large vestibular aqueduct syndrome. The blood samples were randomly blinded and detected by 15 genetic deafness gene detection microchips. Nine hereditary deafness gene detection kits (microarray chip method) and sequencing methods were compared. Results the results showed that the sensitivity and specificity of the probes were 100% and 100%, respectively, which were consistent with those of the comparative method, and there was no significant difference between the two methods by Chi ~ 2 test and Kappa value analysis, and the consistency between the two methods was good. Conclusion the clinical detection results of fifteen genetic deafness gene detection kits (microarray chip method) are stable, reliable and fluxes, which basically meet the needs of clinical hereditary deafness gene detection, and further improve the positive rate and diagnostic rate of (EVAS) patients with large vestibule aqueduct syndrome.
【作者单位】： 解放军总医院耳鼻咽喉头颈外科;博奥生物有限公司暨生物芯片北京国家工程研究中心;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098);国家自然科学基金青年项目(No.81000415) 国家科技支撑计划项目(No.2012BAI09B02) 国家重点基础研究发展计划(973计划)(No.2014CB541706) 科技部863计划(No.2012AA020101) 国家卫生行业科研专项项目(No.201202005) 北京市科技新星计划(No.2010B081,2009B34)
【分类号】：R764.43
【参考文献】
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1 郭永刚;张冠斌;熊强;郭e，
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