Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome

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dc.contributor.authorCarvalho Curtis-Cioffi, Karen M.
dc.contributor.authorRodrigueiro, Debora Aparecida
dc.contributor.authorRodrigues, Valter Curi
dc.contributor.authorBarretto Cicarelli, Regina M. [UNESP]
dc.contributor.authorScarel-Caminaga, Raquel Mantuaneli [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionPontifical Catholic Univ
dc.contributor.institutionUniv Ctr Araraquara
dc.date.accessioned2014-05-20T13:46:52Z
dc.date.available2014-05-20T13:46:52Z
dc.date.issued2012-11-01
dc.description.abstractThe fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB is laborious and costly, some adaptations in the polymerase chain reaction (PCR) method have been utilized for FXS screening. A previous PCR-based screening method for FXS identification utilizing small amounts of DNA was reported as simple and efficient. The aim of this study was to reproduce the mentioned PCR-based screening method for identification of expanded alleles of the FMR1 gene in Brazilian individuals and to investigate the efficiency of this method in comparison with SB. Utilizing the enzyme Expand Long Template PCR System, 78 individuals were investigated by that PCR-based screening method for FXS identification. Conclusive results were obtained for 75 samples. Considering all the allelic forms of FXS (normal [NL], premutation [PM], and full-mutation [FM]), the comparison of the PCR-based screening method with SB demonstrated 100% of accuracy, sensitivity, and specificity. However, when the PM and the FM were analyzed separately from each other, but together with the NL allele, the accuracy, sensitivity, and specificity decreased (to 42.9%-97.4%). We concluded that the PCR-based screening method was reproducible and capable of identifying all different FXS alleles, but because the differentiation between the PM and the FM alleles was not accurate, SB is still the gold-standard method for the molecular diagnosis of FXS.en
dc.description.affiliationUniv Estadual Paulista, UNESP, Fac Odontol Araraquara, Dept Morfol,Sch Dent Araraquara, BR-14801903 Araraquara, SP, Brazil
dc.description.affiliationPontifical Catholic Univ, Sch Med & Hlth Sci, PUC SP, Dept Morphol & Pathol, Sorocaba, Brazil
dc.description.affiliationUniv Ctr Araraquara, UNIARA, Dept Med, Araraquara, Brazil
dc.description.affiliationUniv Estadual Paulista, UNESP, Sch Pharmaceut Sci, Dept Biol Sci, BR-14801903 Araraquara, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, UNESP, Fac Odontol Araraquara, Dept Morfol,Sch Dent Araraquara, BR-14801903 Araraquara, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, UNESP, Sch Pharmaceut Sci, Dept Biol Sci, BR-14801903 Araraquara, SP, Brazil
dc.format.extent1303-1308
dc.identifierhttp://dx.doi.org/10.1089/gtmb.2012.0158
dc.identifier.citationGenetic Testing and Molecular Biomarkers. New Rochelle: Mary Ann Liebert Inc., v. 16, n. 11, p. 1303-1308, 2012.
dc.identifier.doi10.1089/gtmb.2012.0158
dc.identifier.fileWOS000310573800010.pdf
dc.identifier.issn1945-0265
dc.identifier.urihttp://hdl.handle.net/11449/16614
dc.identifier.wosWOS:000310573800010
dc.language.isoeng
dc.publisherMary Ann Liebert, Inc.
dc.relation.ispartofGenetic Testing and Molecular Biomarkers
dc.relation.ispartofjcr1.181
dc.relation.ispartofsjr0,507
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.titleComparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndromeen
dc.typeArtigo
dcterms.licensehttp://www.liebertpub.com/archpolicy/journal-of-womens-health/42/
dcterms.rightsHolderMary Ann Liebert Inc.
unesp.author.orcid0000-0001-5068-0268[5]
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Ciências Farmacêuticas, Araraquarapt
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Odontologia, Araraquarapt
unesp.departmentCiências Biológicas - FCFpt

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Artigos - Morfologia - FOAR
Araraquara - FCF - Faculdade de Ciências Farmacêuticas