Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene

[EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant are less consistent. An inconsistency of association between the type 1 VWD ph...

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Autores: Casaña-Gargallo, María Pilar, Martínez, Francisco, Haya, Saturnino, Espinós-Armero, Carmen Ángeles, Aznar, José A.
Formato: artículo
Fecha de publicación:2001
País:España
Recursos:Universitat Politècnica de València (UPV)
Repositorio:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
Idioma:inglés
OAI Identifier:oai:riunet.upv.es:10251/201273
Acesso em linha:https://riunet.upv.es/handle/10251/201273
Access Level:acceso abierto
Palavra-chave:Genetic linkage
Von Willebrand disease
Type 1 VWD
MicrosatellitesVWF gene
BIOLOGIA CELULAR
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spelling Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor geneCasaña-Gargallo, María PilarMartínez, FranciscoHaya, SaturninoEspinós-Armero, Carmen ÁngelesAznar, José A.Genetic linkageVon Willebrand diseaseType 1 VWDMicrosatellitesVWF geneBIOLOGIA CELULAR[EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant are less consistent. An inconsistency of association between the type 1 VWD phenotype and genotype has been reported recently. We undertook linkage analysis of 12 families with definite or possible type 1 VWD patients. One family with classic type 1 VWD had a high lod score (Z = 5.28, theta = 0.00). A total lod score of 10.68 was obtained for the four families with fully penetrant disease. In two families linkage was rejected, while three families did not show conclusive evidence of linkage. This study corroborates ABO blood group influence, especially in patients with mild deficiencies and/or incomplete penetrance, Indirect genetic analysis may be an option for diagnosing asymptomatic or presymptomatic type 1 VWD carriers, particularly in families showing higher penetrance. The study indicates defects of the VWF locus are to be expected in more than half of the families studied. However, as defects at different loci may be the cause of this phenotype, the results of the segregation analyses should be interpreted with caution, especially in studies involving small families, or mild expressions of the disorder or incomplete penetrance.This work was partly supported by F1S grant # 99/0633 (Spain). We wish to thank J. M. Montoro for the multimeric structure analyses, R. Curats for his help in the segregation analyses, all the staff of the `Unidad de CoagulopatõÂas CongeÂnitas de la Comunidad 5alenciana' for their technical and clinical assistance, and Mr Peter Blair for the linguistic advice given in writing this paper.Blackwell PublishingInstituto de Salud Carlos IIIRepositorio Institucional de la Universitat Politècnica de València Riunet20012001-12-01journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfapplication/pdfhttps://riunet.upv.es/handle/10251/201273reponame:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valénciainstname:Universitat Politècnica de València (UPV)InglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 FIS 99%2F0633 Caracterización de las bases moleculares en hemofilia y enfermedad de von Willebrandopen accesshttp://purl.org/coar/access_right/c_abf2Reserva de todos los derechoshttp://rightsstatements.org/vocab/InC/1.0/info:eu-repo/semantics/openAccessoai:riunet.upv.es:10251/2012732026-06-13T07:49:27Z
dc.title.none.fl_str_mv Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
title Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
spellingShingle Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
Casaña-Gargallo, María Pilar
Genetic linkage
Von Willebrand disease
Type 1 VWD
MicrosatellitesVWF gene
BIOLOGIA CELULAR
title_short Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
title_full Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
title_fullStr Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
title_full_unstemmed Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
title_sort Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene
dc.creator.none.fl_str_mv Casaña-Gargallo, María Pilar
Martínez, Francisco
Haya, Saturnino
Espinós-Armero, Carmen Ángeles
Aznar, José A.
author Casaña-Gargallo, María Pilar
author_facet Casaña-Gargallo, María Pilar
Martínez, Francisco
Haya, Saturnino
Espinós-Armero, Carmen Ángeles
Aznar, José A.
author_role author
author2 Martínez, Francisco
Haya, Saturnino
Espinós-Armero, Carmen Ángeles
Aznar, José A.
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Salud Carlos III
Repositorio Institucional de la Universitat Politècnica de València Riunet
dc.subject.none.fl_str_mv Genetic linkage
Von Willebrand disease
Type 1 VWD
MicrosatellitesVWF gene
BIOLOGIA CELULAR
topic Genetic linkage
Von Willebrand disease
Type 1 VWD
MicrosatellitesVWF gene
BIOLOGIA CELULAR
description [EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant are less consistent. An inconsistency of association between the type 1 VWD phenotype and genotype has been reported recently. We undertook linkage analysis of 12 families with definite or possible type 1 VWD patients. One family with classic type 1 VWD had a high lod score (Z = 5.28, theta = 0.00). A total lod score of 10.68 was obtained for the four families with fully penetrant disease. In two families linkage was rejected, while three families did not show conclusive evidence of linkage. This study corroborates ABO blood group influence, especially in patients with mild deficiencies and/or incomplete penetrance, Indirect genetic analysis may be an option for diagnosing asymptomatic or presymptomatic type 1 VWD carriers, particularly in families showing higher penetrance. The study indicates defects of the VWF locus are to be expected in more than half of the families studied. However, as defects at different loci may be the cause of this phenotype, the results of the segregation analyses should be interpreted with caution, especially in studies involving small families, or mild expressions of the disorder or incomplete penetrance.
publishDate 2001
dc.date.none.fl_str_mv 2001
2001-12-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://riunet.upv.es/handle/10251/201273
url https://riunet.upv.es/handle/10251/201273
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 FIS 99%2F0633 Caracterización de las bases moleculares en hemofilia y enfermedad de von Willebrand
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Reserva de todos los derechos
http://rightsstatements.org/vocab/InC/1.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Reserva de todos los derechos
http://rightsstatements.org/vocab/InC/1.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Blackwell Publishing
publisher.none.fl_str_mv Blackwell Publishing
dc.source.none.fl_str_mv reponame:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname:Universitat Politècnica de València (UPV)
instname_str Universitat Politècnica de València (UPV)
reponame_str RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
collection RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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