| Sumario: | Conclusion: In this cohort of 156 non-syndromic hearing-impaired subjects of Tengzhou area, the most common deafness-associated genesGJB2,SLC26A4andmtDNA 12S rRNAwere investigated by SNPscan efficiently.GJB2c.235delC andSLC26A4c.IVS7-2A > G were the most common mutation sites.Objectives: Until now, there is no systematic gentic analysis in patients with non-syndromic hearing loss for Tengzhou area, so we evaluated the molecular etiology to investigate the hot-sports.Methods: Peripheral blood samples were obtained from 156 patients with severe-to-profound non-syndromic deafness in Tengzhou. The SNP scan assay technique was performed for a rapid multiplex genetic screening to detect the 115 mutations of the most common three genes. All results were statistically analyzed with SPSS software.Results: Among the 156 analyzed patients, 60 patients were demonstrated with deafness genes, accounting for 38.46% (60/156), includingGJB2(22.44%, 35/156),SLC26A4(13.66%, 22/156), andmtDNA 12S rRNA(2.56%, 4/156). In this study, we confirmed 23 deafness-causing mutations and 27 different allelic combinations includingGJB2(eight variants, 11 allelic combinations),SLC26A4(13 variants, 16 allelic combinations) andmtDNA 12S rRNA(two variants). The occurrence rates of these deafness-causing mutationsGJB2c.235delC andSLC26A4c.IVS7-2A > G were significantly higher than other mutation sites (p < 0.01).
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