Rapid genetic diagnosis of patients with non-syndromic sensorineural hearing loss / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

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.