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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleNobel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencypt_BR
dc.contributor.authorCoeli, FBpt_BR
dc.contributor.authorSoardi, FCpt_BR
dc.contributor.authorBernardi, RDpt_BR
dc.contributor.authorde Araujo, Mpt_BR
dc.contributor.authorPaulino, LCpt_BR
dc.contributor.authorLau, IFpt_BR
dc.contributor.authorPetroli, RJpt_BR
dc.contributor.authorde Lemos-Marini, SHVpt_BR
dc.contributor.authorBaptista, MTMpt_BR
dc.contributor.authorGuerra, Gpt_BR
dc.contributor.authorde-Mello, MPpt_BR
unicamp.author.emailmmello@unicamp.brpt_BR
unicamp.authorCoeli, Fernanda B. Soardi, Fernanda C. Bernardi, Renan D. de Araujo, Marcela Paulino, Luciana C. Lau, Ivy F. Petroli, Reginaldo J. de-Mello, Maricilda P. Univ Estadual Campinas, Lab Genet Mol Humana, Ctr Biol Mol & Engn Genet, Campinas, SP, Brazilpt_BR
unicamp.authorde Lemos-Marini, Sofia H. V. Guerra-Junior, Gil Univ Estadual Campinas, Fac Ciencias Med, Dept Pediat, Ctr Invest Pediat, Campinas, SP, Brazilpt_BR
unicamp.authorBaptista, Maria T. M. Univ Estadual Campinas, Fac Ciencias Med, Dept Clin Med, Disciplina Endocrinol, Campinas, SP, Brazilpt_BR
dc.subject.wosMajor Histocompatibility Complexpt_BR
dc.subject.wosCongenital Adrenal-hyperplasiapt_BR
dc.subject.wosClass-iii Regionpt_BR
dc.subject.wosRp-c4-cyp21-tnx Rccx Modulespt_BR
dc.subject.wosSteroid 21-hydroxylasept_BR
dc.subject.wosComponent C4pt_BR
dc.subject.wosEndogenous Retrovirusespt_BR
dc.subject.wosUnequal Crossoverpt_BR
dc.subject.wosCyp21p/cyp21 Genept_BR
dc.subject.wosCyp21pt_BR
dc.description.abstractBackground: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine Kinase RP, complement C4, steroid 21-hydroxylase CYP21 tenascin TNX, normally, in a duplicated cluster known as RCCX module. The CYP21 extra copy is a pseudogene (CYP21A1P). In Brazil, 30-kb deletion forming monomodular alleles that carry chimeric CYP21A1P/A2 genes corresponds to similar to 9% of disease-causing alleles. Such alleles are considered to result from unequal crossovers within the bimodular C4/CYP21 locus. Depending on the localization of recombination breakpoint, different alleles can be generated conferring the locus high degree of allelic variability. The purpose of the study was to investigate the variability of deleted alleles in patients with 21-hydroxylase deficiency. Methods: We used different techniques to investigate the variability of 30-kb deletion alleles in patients with 21-hydroxylase deficiency. Alleles were first selected after Southern blotting. The composition of CYP21A1P/A2 chimeric genes was investigated by ASO-PCR and MLPA analyses followed by sequencing to refine the location of recombination breakpoints. Twenty patients carrying at least one allele with C4/CYP21 30-kb deletion were included in the study. Results: An allele carrying a CYP21A1P/A2 chimeric gene was found unusually associated to a C4B/C4A Taq I 6.4-kb fragment, generally associated to C4B and CYP21A1P deletions. A novel haplotype bearing both p.P34L and p.H62L, novel and rare mutations, respectively, was identified in exon 1, however p.P30L, the most frequent pseudogene-derived mutation in this exon, was absent. Four unrelated patients showed this haplotype. Absence of p.P34L in CYP21A1P of normal controls indicated that it is not derived from pseudogene. In addition, the combination of different approaches revealed nine haplotypes for deleted 21-hydroxylase deficiency alleles. Conclusions: This study demonstrated high allelic variability for 30-kb deletion in patients with 21-hydroxylase deficiency indicating that a founder effect might be improbable for most monomodular alleles carrying CYP21A1P/A2 chimeric genes in Brazil.pt
dc.relation.ispartofBmc Medical Geneticspt_BR
dc.relation.ispartofabbreviationBMC Med. Genet.pt_BR
dc.publisher.cityLondonpt_BR
dc.publisher.countryInglaterrapt_BR
dc.publisherBiomed Central Ltdpt_BR
dc.date.issued2010pt_BR
dc.date.monthofcirculation47270pt_BR
dc.identifier.citationBmc Medical Genetics. Biomed Central Ltd, v. 11, 2010.pt_BR
dc.language.isoenpt_BR
dc.description.volume11pt_BR
dc.rightsabertopt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn1471-2350pt_BR
dc.identifier.wosidWOS:000283192200001pt_BR
dc.identifier.doi10.1186/1471-2350-11-104pt_BR
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
dc.description.sponsorshipFCS [03/01785-0]pt_BR
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsorship1Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
dc.description.sponsorship1Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsordocumentnumberFAPESP [92/03332-6, 97/07622-2, 01/08150-4, 05/00981-5]pt
dc.description.sponsordocumentnumberFCS [03/01785-0]pt
dc.date.available2014-11-14T13:46:39Z
dc.date.available2015-11-26T16:06:50Z-
dc.date.accessioned2014-11-14T13:46:39Z
dc.date.accessioned2015-11-26T16:06:50Z-
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dc.description.provenanceMade available in DSpace on 2015-11-26T16:06:50Z (GMT). No. of bitstreams: 2 WOS000283192200001.pdf: 1450947 bytes, checksum: d736e0aee41efd3d5b8a63fa74035fbe (MD5) WOS000283192200001.pdf.txt: 58291 bytes, checksum: ec1f7624c6e60d3e5c1e0a8d81192820 (MD5) Previous issue date: 2010en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/61939pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/61939
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/61939-
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