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...
| Authors: | ; ; ; ; |
|---|---|
| Format: | Article |
| Publication date: | 2001 |
| Country: | España |
| Institution: | Universitat Politècnica de València (UPV) |
| Repository: | RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia |
| Language: | English |
| OAI Identifier: | oai:riunet.upv.es:10251/201273 |
| Online Access: | https://riunet.upv.es/handle/10251/201273 |
| Access Level: | Open access |
| Keyword: | Genetic linkage Von Willebrand disease Type 1 VWD MicrosatellitesVWF gene BIOLOGIA CELULAR |
| _version_ | 1878733768649342976 |
|---|---|
| author | Casaña-Gargallo, María Pilar |
| author2 | Martínez, Francisco Haya, Saturnino Espinós-Armero, Carmen Ángeles Aznar, José A. |
| author2_role | author author author author |
| author_browse | Aznar, José A. Casaña-Gargallo, María Pilar Espinós-Armero, Carmen Ángeles Haya, Saturnino Martínez, Francisco |
| author_facet | Casaña-Gargallo, María Pilar Martínez, Francisco Haya, Saturnino Espinós-Armero, Carmen Ángeles Aznar, José A. |
| author_role | author |
| collection | RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia |
| 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_5c99b9826b313248c19cfd2ccd2ebc1a |
| institution | Universitat Politècnica de València (UPV) |
| instname_str | Universitat Politècnica de València (UPV) |
| language | eng |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:riunet.upv.es:10251/201273 |
| publishDate | 2001 |
| publishDateSort | 2001 |
| publisher | Blackwell Publishing |
| publisherStr | Blackwell Publishing |
| reponame_str | RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia |
| spelling | Significant linkage and non-linkage of type 1 von Willebrand Disease to the von Willebrand factor gene Casaña-Gargallo, María Pilar Martínez, Francisco Haya, Saturnino Espinós-Armero, Carmen Ángeles Aznar, José A. Genetic linkage Von Willebrand disease Type 1 VWD MicrosatellitesVWF gene BIOLOGIA 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 Publishing https://riunet.upv.es/handle/10251/201273 |
| 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 | 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_short | 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 |
| topic | Genetic linkage Von Willebrand disease Type 1 VWD MicrosatellitesVWF gene BIOLOGIA CELULAR |
| topic_facet | Genetic linkage Von Willebrand disease Type 1 VWD MicrosatellitesVWF gene BIOLOGIA CELULAR |
| url | https://riunet.upv.es/handle/10251/201273 |