中华耳科学杂志Issue(1)：6-10,5.DOI:10.3969/j.issn.1672-2922.2014.01.002
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
摘要
Abstract
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.关键词
耳聋/突变/基因芯片/基因诊断Key words
Deafness/Mutation/DNA microarray/Genetic Testing分类
医药卫生引用本文复制引用
王国建,张冠斌,袁永一,黄莎莎,李元源,康东洋,程京,戴朴..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[J].中华耳科学杂志,2014,(1):6-10,5.基金项目
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 （）
