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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleAllelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regionspt_BR
dc.contributor.authorOliveira, CApt_BR
dc.contributor.authorPimpinati, CJpt_BR
dc.contributor.authorAlexandrino, Fpt_BR
dc.contributor.authorMagna, LApt_BR
dc.contributor.authorMaciel-Guerra, ATpt_BR
dc.contributor.authorSartorato, ELpt_BR
unicamp.author.emailsartor@unicamp.brpt_BR
unicamp.authorUniv Estadual Campinas, CBMEG, Fac Ciencias Med, Lab Genet Humana, BR-13083970 Campinas, SP, Brazil Univ Estadual Campinas, Dept Med Genet, Fac Ciencias Med, BR-13083970 Campinas, SP, Brazilpt_BR
dc.subject.wosConnexin 26 Genept_BR
dc.subject.wosPrelingual Deafnesspt_BR
dc.subject.wosCarrier Frequencypt_BR
dc.subject.wosHigh Prevalencept_BR
dc.subject.wosPopulationpt_BR
dc.subject.wosLineagespt_BR
dc.description.abstractMutations in the GJB2 gene, which encodes the protein connexin 26, are a major cause of autosomal recessive deafness. The most frequent mutation, 35delG, has a carrier frequency as high as 4% in some countries, and this frequency varies in different ethnic groups. Most of the Brazilian population results from interethnic crosses of people from three continents (European, African, and Amerindian), and the proportion of each varies according to the geographical region of the country. To verify if the different ethnic composition of Brazilian regions leads to variable 35delG carrier frequencies, we performed the screening of the 35delG mutation using DNA from dried-blood filter paper samples obtained from 1,856 newborns from 10 cities in different regions. The 35delG mutation was found in 25 individuals (1.35%), indicating an overall carrier frequency of 1:74. This frequency was 1: 47 in the north, 1: 64 in the southeast, 1: 85 in the south and 1: 124 in the northeast, but these differences were not significant. The overall frequency of the 35delG allele was estimated as 0.0067, and comparison between expected and observed genotype frequencies indicates that the population is in Hardy-Weinberg equilibrium.pt
dc.description.noteo TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.pt
dc.relation.ispartofGenetic Testingpt_BR
dc.relation.ispartofabbreviationGenet. Test.pt_BR
dc.publisher.cityNew Rochellept_BR
dc.publisher.countryEUApt_BR
dc.publisherMary Ann Liebert Incpt_BR
dc.date.issued2007pt_BR
dc.date.monthofcirculationMARpt_BR
dc.identifier.citationGenetic Testing. Mary Ann Liebert Inc, v. 11, n. 1, n. 1, n. 3, 2007.pt_BR
dc.language.isoenpt_BR
dc.description.volume11pt_BR
dc.description.issuenumber1pt_BR
dc.description.firstpage1pt_BR
dc.description.lastpage3pt_BR
dc.rightsembargopt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn1090-6576pt_BR
dc.identifier.wosidWOS:000245435000001pt_BR
dc.identifier.doi10.1089/gte.2006.9994pt_BR
dc.date.available2014-11-15T02:10:23Z
dc.date.available2015-11-26T17:35:47Z-
dc.date.accessioned2014-11-15T02:10:23Z
dc.date.accessioned2015-11-26T17:35:47Z-
dc.description.provenanceMade available in DSpace on 2014-11-15T02:10:23Z (GMT). No. of bitstreams: 1 WOS000245435000001.pdf: 128093 bytes, checksum: 1679590a605c007f5c55f33dae2dc90c (MD5) Previous issue date: 2007en
dc.description.provenanceMade available in DSpace on 2015-11-26T17:35:47Z (GMT). No. of bitstreams: 2 WOS000245435000001.pdf: 128093 bytes, checksum: 1679590a605c007f5c55f33dae2dc90c (MD5) WOS000245435000001.pdf.txt: 14684 bytes, checksum: 9f60ee8880259cd31317c7cf6dd8a587 (MD5) Previous issue date: 2007en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/77145pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/77145
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/77145-
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