GJB2, SLC26A4 , and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.
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,...
| Publicado en: | Acta Oto-Laryngologica Vol. 136; no. 8; pp. 800 - 806 |
|---|---|
| Autores principales: | , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
Aug2016
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=116750471&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 116750471 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00016489 B6D jtl: Acta Oto-Laryngologica issn: 00016489 maglogo: Y pubinfo: dt: Aug2016 vid: 136 iid: 8 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 116750471 116750471 116750471 10.3109/00016489.2016.1164893 116750471 ppf: 800 ppct: 6 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: GJB2, SLC26A4 , and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China. aug: au: Ma, Yalin Xiao, Yun Bai, Xiaohui Zhang, Fengguo Zhang, Daogong Xu, Xinmao Xu, Lei Wang, Haibo affil: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, PR China sug: subj: Genes Mutation Hearing Disorders Familial and Genetic China DNA Analysis Polymorphism, Genetic Genetic Screening Methods Genotype Prospective Studies Data Analysis Software Chi Square Test P-Value Infant Child, Preschool Child Adolescence Female Male Human Funding Source Infant: 1-23 months Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years Female Male ab: 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). pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|