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dc.contributor.author Colombo, Federico Pablo
dc.contributor.author Martinez, Javier
dc.contributor.author Varela, Laura Sabina
dc.contributor.author Gerez, Esther Noemi
dc.contributor.author Mendez, Manuel
dc.contributor.author Batlle, Alcira Maria del C.
dc.contributor.author Rossetti, Maria Victoria
dc.contributor.author Parera, Victoria Estela
dc.date.available 2016-10-24T20:04:02Z
dc.date.issued 2014-01
dc.identifier.citation Colombo, Federico Pablo; Martinez, Javier; Varela, Laura Sabina; Gerez, Esther Noemi; Mendez, Manuel; et al.; Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina; Science Domain International; British journal of Medicine and Medical Research; 4; 8; 1-2014; 1691-1700
dc.identifier.issn 2231-0614
dc.identifier.uri http://hdl.handle.net/11336/7786
dc.description.abstract Aims: Porphyria Cutanea Tarda (PCT), the most common of porphyrias is triggered by several factors, including iron overload. Type I Hereditary Hemochromatosis is inherited as an autosomal recessive trait of the mutation p.C282Y or as a compound heterozygous form p.C282Y/p.H63D in HFE gene. Our aim was to study the frequency of HFE mutations in Argentinean PCT patients and in control subjects. Place and Duration of Study: CIPYP, CONICET, Hospital de Clínicas José de San Martín: Av. Córdoba 2351, 1º subsuelo, Buenos Aires, Argentina (1120). Between March 2008 and March 2010. Methodology: We analyzed HFE mutations in 103 PCT patients (67 males, 36 females) and in 93 control subjects (63 males and 30 females). PCT patients were classified as familial, sporadic or Type III PCT measuring URO-D activity in red blood cells. HFE mutations were detected by amplification and automatic sequencing of exons 2 and 4 in the HFE gene. In some cases p.H63D and p.C282Y mutations were also detected by digestion with restriction enzymes (Mbo I for p.H63D and Rsa I for p.C282Y), followed by 3% polyacrilamide gel electrophoresis. Results: In PCT group, 34.9% carried mutation p.H63D (26.2% heterozygous, 5.8% homozygous and 2.9% as p.C282Y/p.H63D) and 7.8% carried mutation p.C282Y (2.9% in heterozygocity, 1.9% in homozygocity and 2.9% as p.C282Y/p.H63D). In the control group, 30.1% carried p.H63D (28% in heterozygous and 2.1% in homozygous), and 5.4% had p.C282Y in heterozygosity. There were no significant differences between sporadic and familial PCT and neither between PCT and control groups. Our findings are in agreement with the prevalence of the Mediterranean origin of our patients, where p.C282Y mutation is less common than p.H63D mutation. Conclusion: We conclude that mutations in HFE gene do not play a relevant role in the triggering of PCT in our country. - See more at: http://www.sciencedomain.org/abstract.php?iid=380&id=12&aid=2851#.UtbUqtLuKos
dc.format application/pdf
dc.language.iso eng
dc.publisher Science Domain International
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject PORPHYRIA CUTANEA TARDA (PCT)
dc.subject SPORADIC PCT
dc.subject FAMILIAL PCT
dc.subject HEREDITARY HEMOCHROMATOSIS
dc.subject P.C282Y MUTATION
dc.subject P.H63D MUTATION
dc.subject.classification Genética Humana
dc.subject.classification Medicina Básica
dc.subject.classification CIENCIAS MÉDICAS Y DE LA SALUD
dc.title Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina
dc.type info:eu-repo/semantics/article
dc.type info:ar-repo/semantics/artículo
dc.type info:eu-repo/semantics/publishedVersion
dc.date.updated 2016-08-30T17:10:57Z
dc.journal.volume 4
dc.journal.number 8
dc.journal.pagination 1691-1700
dc.journal.pais Estados Unidos
dc.description.fil Fil: Colombo, Federico Pablo. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
dc.description.fil Fil: Martinez, Javier. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
dc.description.fil Fil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
dc.description.fil Fil: Gerez, Esther Noemi. Universidad de Buenos Aires. Facultad de Cs.exactas y Naturales. Departamento de Quimica Biologica. Laboratorio de Metabolismo D/hemo. Porfirinas y Enf.relac.; Argentina. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
dc.description.fil Fil: Mendez, Manuel. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. University Hospital 12 de Octubre. Porphyrias Research Centre; España
dc.description.fil Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
dc.description.fil Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
dc.description.fil Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
dc.journal.title British journal of Medicine and Medical Research
dc.relation.alternativeid info:eu-repo/semantics/altIdentifier/url/http://www.sciencedomain.org/abstract/2851
dc.relation.alternativeid info:eu-repo/semantics/altIdentifier/url/https://doi.org/10.9734/BJMMR/2014/7303


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  • Articulos(CIPYP) [36]
    Articulos de CENTRO DE INVEST. SOBRE PORFIRINAS Y PORFIRIAS

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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution 2.5 Unported (CC BY 2.5)