Screening For Mutations In The Gjb3 Gene In Brazilian Patients With Nonsyndromic Deafness

dc.creatorAlexandrino F.
dc.creatorOliveira C.A.
dc.creatorReis F.C.
dc.creatorMaciel-Guerra A.T.
dc.creatorSartorato E.L.
dc.date2004
dc.date2015-06-26T14:24:32Z
dc.date2015-11-26T14:13:30Z
dc.date2015-06-26T14:24:32Z
dc.date2015-11-26T14:13:30Z
dc.date.accessioned2018-03-28T21:14:16Z
dc.date.available2018-03-28T21:14:16Z
dc.identifier
dc.identifierJournal Of Applied Genetics. , v. 45, n. 2, p. 249 - 254, 2004.
dc.identifier12341983
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-2942735102&partnerID=40&md5=f2fe490f4cb884b93044126ab6337d6b
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/94496
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/94496
dc.identifier2-s2.0-2942735102
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1242298
dc.descriptionDeafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial genes involved (http://dnalab-www.uia.ac.be/dnalab/ hhh/). Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment. To determine the contribution of the GJB3 gene to sporadic deafness, we analysed the GJB3 gene in 67 families with nonsyndromic hearing impairment. A single coding exon of the GJB3 gene was amplified from genomic DNA and then sequenced. Here we report on three amino acid changes: Y177D (c.529T > G), 49delK (c.1227C > T), and R32W (c.144-146delGAA). The latter substitution has been previously described, but its involvement in hearing impairment remains uncertain. We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.
dc.description45
dc.description2
dc.description249
dc.description254
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dc.languageen
dc.publisher
dc.relationJournal of Applied Genetics
dc.rightsfechado
dc.sourceScopus
dc.titleScreening For Mutations In The Gjb3 Gene In Brazilian Patients With Nonsyndromic Deafness
dc.typeArtículos de revistas


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