The First Homozygous Family for Prothrombin G20210A Polymorphism Reported in Latin America

dc.creatorRomán González, Alejandro
dc.creatorCardona Cadavid, Henry
dc.creatorCastañeda Ospina, Serguei Abel
dc.creatorMartínez Garro, Juliana
dc.creatorTorres Hernández, Jose Domingo
dc.creatorTobón Acosta, Luis Ignacio
dc.creatorBedoya Berrío, Gabriel de Jesús
dc.creatorCadavid Jaramillo, Ángela Patricia
dc.creatorCardona Maya, Walter Darío
dc.date2022-11-20T15:43:12Z
dc.date2022-11-20T15:43:12Z
dc.date2009
dc.date.accessioned2023-08-28T20:03:49Z
dc.date.available2023-08-28T20:03:49Z
dc.identifierRoman-Gonzalez A, Cardona H, Cardona-Maya W, Alvarez L, Castaneda S, Martinez J, Torres JD, Tobon L, Bedoya G, Cadavid A. The first homozygous family for prothrombin G20210A polymorphism reported in Latin America. Clin Appl Thromb Hemost. 2009 Feb;15(1):113-6. doi: 10.1177/1076029608325049.
dc.identifier1076-0296
dc.identifierhttps://hdl.handle.net/10495/32158
dc.identifier10.1177/1076029608325049
dc.identifier1938-2723
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8473297
dc.descriptionABSTRACT: The 20210A allele of the prothrombin gene is associated with increased risk of venous thromboembolism. In this study, we described manifestations of thrombosis in four generations of a Colombian family, with four 20210A homozygous carriers and six 20210G/A heterozygous carriers for polymorphism as well as unrelated participants from the same population. The levels of prothrombin in the 20210A homozygote patients were higher than in the normal 20210G homozygotes (133 + 11% and 92.3 + 12.4%, respectively, P < .01) and the 20210G/A heterozygotes (133 + 11% vs. 114.8 + 24%, P < .05). About 2 out of 4 20210A homozygotes and 5 out of 6 20210G/A heterozygous members of this family did not have venous thromboembolism or any other thrombotic manifestation even though one of them had been exposed to thrombotic risk factors. Thus, we posit the effect of 20210A on the thrombotic phenotype in this family seems to be weak.
dc.descriptionCOL0007631
dc.descriptionCOL0006723
dc.descriptionCOL0010421
dc.format4
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherSage Publications
dc.publisherGenética Molecular (GENMOL)
dc.publisherGrupo Reproducción
dc.publisherNueva York, Estados Unidos
dc.relationClin. Appl. Thromb. Hemost.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.subjectTrombofilia
dc.subjectThrombophilia
dc.subjectProtrombina
dc.subjectProthrombin
dc.subjectHomocigoto
dc.subjectHomozygote
dc.subjectTrombosis de la Vena
dc.subjectVenous Thrombosis
dc.subjectPolimorfismo Genético
dc.subjectPolymorphism, Genetic
dc.titleThe First Homozygous Family for Prothrombin G20210A Polymorphism Reported in Latin America
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ARTCASO
dc.typeReporte de caso


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