Mutation Spectra of Genes in 318 Chinese Han Population with Nonsyndromic Hearing Loss / 中国康复理论与实践

ABSTRACT

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 12Sr RNA were detected with polymerase chain reaction (PCR) and Matrix Assisted Laser De-sorption/Ionization Time-Of-Fight Mass Spectrometry (MALDI-TOF MS). Results Among these patient, 111 cases (34.9%) had GJB2 muta-tions, in which the mutation carrying rate of 235delC 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 12Sr RNA mutations. Conclusion Definition of mutation spectrum among dif-ferent populations with NSHL is important for development of optimal genetic screening services for congenital hearing impairment.