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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.identifier.isbnnullpt
dc.typeArtigo de periódicopt_BR
dc.titleFrequency Of 677c → T And 1298a → C Polymorphisms In The 5,10-methylenetetrahydrofolate Reductase (mthfr) Gene In Turner Syndrome Individualspt_BR
dc.contributor.authorSantos K.pt_BR
dc.contributor.authorLemos-Marini S.H.V.pt_BR
dc.contributor.authorBaptista M.T.M.pt_BR
dc.contributor.authorBonadia L.C.pt_BR
dc.contributor.authorPinto Jr. W.pt_BR
dc.contributor.authorBertuzzo C.S.pt_BR
unicamp.authorSantos, K., Universidade Estadual de Campinas, Departamento de Genética Médica, Laboratório de Genética Molecular, Rua Shigeo Mori 1710, 13081-970 Campinas, SP, Brazilpt_BR
unicamp.authorLemos-Marini, S.H.V., Universidade Estadual de Campinas, Departamento de Pediatria, Campinas, SP, Brazilpt_BR
unicamp.authorBaptista, M.T.M., Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Clínica Médica, Campinas, SP, Brazilpt_BR
unicamp.authorBonadia, L.C., Universidade Estadual de Campinas, Departamento de Genética Médica, Laboratório de Genética Molecular, Rua Shigeo Mori 1710, 13081-970 Campinas, SP, Brazilpt_BR
unicamp.authorPinto Jr., W., Universidade Estadual de Campinas, Departamento de Genética Médica, Laboratório de Genética Molecular, Rua Shigeo Mori 1710, 13081-970 Campinas, SP, Brazilpt_BR
unicamp.authorBertuzzo, C.S., Universidade Estadual de Campinas, Departamento de Genética Médica, Laboratório de Genética Molecular, Rua Shigeo Mori 1710, 13081-970 Campinas, SP, Brazilpt_BR
dc.description.abstractTurner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C → T and 1298A → C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C → T allele was 0.39 for patients and 0.29 for controls while that of the 1298A → C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (χ2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C → T/677C → T genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity. Copyright by the Brazilian of Genetics.en
dc.relation.ispartofGenetics and Molecular Biologypt_BR
dc.publishernullpt_BR
dc.date.issued2006pt_BR
dc.identifier.citationGenetics And Molecular Biology. , v. 29, n. 1, p. 41 - 44, 2006.pt_BR
dc.language.isoenpt_BR
dc.description.volume29pt_BR
dc.description.issuenumber1pt_BR
dc.description.initialpage41pt_BR
dc.description.lastpage44pt_BR
dc.rightsabertopt_BR
dc.sourceScopuspt_BR
dc.identifier.issn14154757pt_BR
dc.identifier.doi10.1590/S1415-47572006000100008pt_BR
dc.identifier.urlhttp://www.scopus.com/inward/record.url?eid=2-s2.0-33645039177&partnerID=40&md5=c84f3bf6ae8e54007fcbfb04dbce98dept_BR
dc.date.available2015-06-30T18:16:07Z
dc.date.available2015-11-26T14:28:38Z-
dc.date.accessioned2015-06-30T18:16:07Z
dc.date.accessioned2015-11-26T14:28:38Z-
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dc.description.provenanceMade available in DSpace on 2015-11-26T14:28:38Z (GMT). No. of bitstreams: 2 2-s2.0-33645039177.pdf: 539674 bytes, checksum: fdb8663c049047de0cc7c90968bae2ba (MD5) 2-s2.0-33645039177.pdf.txt: 16120 bytes, checksum: 33335d2faf3743ee7f1ce98d13fc8967 (MD5) Previous issue date: 2006en
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/103756
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/103756-
dc.identifier.idScopus2-s2.0-33645039177pt_BR
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