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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampCarvalho-Siqueira, Gabriela Queila de-
dc.contributor.authorunicampSilva-Costa, Sueli Matilde da-
dc.contributor.authorunicampSartorato, Edi Lúcia-
dc.typeArtigopt_BR
dc.titleSingle nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing losspt_BR
dc.contributor.authorGrillo, Ana Paula-
dc.contributor.authorde Oliveira, Flavia Marcorin-
dc.contributor.authorde Carvalho, Gabriela Queila-
dc.contributor.authorVieira Medrano, Ruan Felipe-
dc.contributor.authorda Silva-Costa, Sueli Matilde-
dc.contributor.authorSartorato, Edi Lucia-
dc.contributor.authorde Oliveira, Camila Andrea-
dc.subjectPolimorfismo de nucleotídeo únicopt_BR
dc.subjectPolimorfismo (Genética)pt_BR
dc.subjectPerda auditivapt_BR
dc.subject.otherlanguageGenetic polymorphismspt_BR
dc.subject.otherlanguageSingle nucleotide polymorphismpt_BR
dc.subject.otherlanguageHearing losspt_BR
dc.description.abstractSingle nucleotide polymorphisms (SNPs) are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL). The SNPs rs3751385 (C/T), rs7994748 (C/T), rs7329857 (C/T), rs7987302 (G/A), rs7322538 (G/A), rs9315400 (C/T), rs877098 (C/T), rs945369 (A/C), and rs7333214 (T/G) were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P < 0.05). No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humanspt_BR
dc.relation.ispartofBiomed research internationalpt_BR
dc.relation.ispartofabbreviationBiomed res. int.pt_BR
dc.publisher.cityLondonpt_BR
dc.publisher.countryReino Unidopt_BR
dc.publisherHindawipt_BR
dc.date.issued2015-
dc.language.isoengpt_BR
dc.description.volume2015pt_BR
dc.rightsAbertopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn2314-6133pt_BR
dc.identifier.eissn2314-6141pt_BR
dc.identifier.doi10.1155/2015/318727pt_BR
dc.identifier.urlhttps://www.hindawi.com/journals/bmri/2015/318727/pt_BR
dc.description.sponsorshipCONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQpt_BR
dc.date.available2020-12-10T15:56:33Z-
dc.date.accessioned2020-12-10T15:56:33Z-
dc.description.provenanceSubmitted by Cintia Oliveira de Moura (cintiaom@unicamp.br) on 2020-12-10T15:56:33Z No. of bitstreams: 0. Added 1 bitstream(s) on 2021-02-19T19:00:35Z : No. of bitstreams: 1 000355436600001.pdf: 1523171 bytes, checksum: 66f92bf3d8963c1c1f31b7a743a6004c (MD5)en
dc.description.provenanceMade available in DSpace on 2020-12-10T15:56:33Z (GMT). No. of bitstreams: 0 Previous issue date: 2015en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/353072-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeCentro de Biologia Molecular e Engenharia Genéticapt_BR
dc.contributor.unidadeInstituto de Biologiapt_BR
dc.subject.keywordPopulation||Impairmentpt_BR
dc.subject.keywordMessenger-rnapt_BR
dc.identifier.source000355436600001pt_BR
dc.creator.orcid0000-0002-2976-9759pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.creator.orcid0000-0002-2000-0118pt_BR
dc.type.formArtigopt_BR
dc.identifier.articleid318727pt_BR
dc.description.sponsorNoteFundacao Herminio Ometto/FHOpt_BR
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