Objective To report deafness-related mutation sites among 459 infants with congenital hearing loss(HL)born in Chengdu in 2020 to improve prevention and control of hereditary deafness.Methods Genomic DNA was extracted from dried blood and analyzed using high-throughput sequencing kit capable of detecting 101 mutation sites in 18 deafness-associated genes.Results Mutation sites were detected in 241 children,with GJB2 and SLC26A4 were the top two common deafness genes involved(49.46%and 0.65%,respectively).Among the 241 positive cases,GJB2 c.109G>A was found in 219,the most common deafness mutations in this cohort.Conclusion The high-throughput se-quencing technology facilitates detection of deafness-associated mutation sites in infants with congenital HL and imple-ment of effective intervention,genetic counseling and healthcare.c.109G>A in the GJB2 gene has the highest frequency in the Chengdu population,significantly higher than in other major city populations in China,requiring clinical attention.
国家科技期刊平台
NSTL
万方数据
