摘要
目的应用基质辅助激光解析/离子化飞行时间质谱（MALDI-TOF MS）对先天性非综合征性耳聋患者进行耳聋基因筛查。方法采集2015年10月~2016年4月318份先天性非综合征性耳聋患者抗凝静脉全血,应用多重聚合酶链式反应（PCR）和MALDI-TOF MS的方法进行中国人常见的四个耳聋基因GJB2、SLC26A4、GJB3、线粒体12Sr RNA共20个位点的突变检测。结果共检出GJB2基因突变111例（34.9%）,其中235del C的突变携带率最高（25.47%）;SLC26A4基因突变43例（13.5%）;GJB3基因突变3例（0.94%）;线粒体12Sr RNA基因突变12例（3.77%）。结论确定不同非综合征性耳聋人群相关基因突变谱,对于建立先天性耳聋患者理想的基因筛查方法意义十分重要。
Objective To define the mutation spectra of deafness gene in 318 Chinese Han population with nonsyndromic hearing loss（NSHL）. Methods From October, 2015 to April, 2016, anticoagulant venous whole blood of 318 patients with NSHL were collected. The genes including GJB2, SLC26A4, GJB3 and 12 Sr RNA were detected with polymerase chain reaction（PCR） and Matrix Assisted Laser Desorption/Ionization Time-Of-Fight Mass Spectrometry（MALDI-TOF MS）. Results Among these patient, 111 cases（34.9%） had GJB2 mutations, in which the mutation carrying rate of 235 del C was the highest（25.47%）, 43 cases（13.5%） had SLC26A4 mutations, 3 cases（0.94%）had GJB3 mutations, and 12 cases（3.77%） had mitochondria 12 Sr RNA mutations. Conclusion Definition of mutation spectrum among different populations with NSHL is important for development of optimal genetic screening services for congenital hearing impairment.
出处
《中国康复理论与实践》
CSCD
北大核心
2016年第12期1451-1454,共4页
Chinese Journal of Rehabilitation Theory and Practice
基金
国家高技术研究发展计划("863"计划)项目(No.2014AA020901)
关键词
非综合征性耳聋
基因突变
基质辅助激光解析/离子化飞行时间质谱
nonsyndromic hearing loss
gene mutation
Matrix Assisted Laser Desorption/Ionization Time-Of-Fight Mass Spectrometry
