摘要
目的:探索耳聋基因芯片快速诊断技术在聋病分子遗传学诊断中应用的可行性。方法:对110例重度感音神经性聋患者及其亲属,采外周静脉血样并采用"遗传性聋基因芯片检测系统"对4个热点突变基因共9个热点突变位点进行检测。结果:110例受检者中总阳性检出率为50.9%;54例聋病患者中有32例被检出携带致聋基因,检出率为59.3%;样本抽样测序验证符合率为100%。结论:①该"遗传性聋基因芯片检测系统"阳性检出率较高,具有快速、高通量、灵敏、特异性强等特点,适用于临床筛查和辅助诊断,是遗传性聋病因学检测的有效方法;②分子遗传学诊断对聋病的防治意义深远。
Objective：To evaluate the feasibility of a rapid genetic diagnosis technique in molecular genetics study of hearing loss.Method：One hundred and ten subjects including 54 with moderate to profound non-syndromic sensorineural hearing loss were enrolled in this study.All with informed consents.Their peripheral blood samples were taken and tested using Hearing Loss Array Kit developed by Capital Bio.Nine hot mutation sites from 4 high risk genes were tested each.Result：The overall positive rate in this cohort was 50.9%,while the positive rate among 54 hearing loss cases was 59.3%.DNA sequence analysis showed 100% coincident with gene chip results.Conclusion：This Hearing Loss Array Kit（gene chip） has a high positive detection ratio,its characteristics such as rapid high-flux sensitive and high specific make it possible and promising in future screening and diagnosis in patients with sensorineural hearing loss.Molecular genetic diagnosis also has a profound value in deafness prevention.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2011年第13期593-596,共4页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
科技部人类重要疾病遗传资源标准化整理整合研究项目(No:2005DKA21302)
