title: [Von Willebrand disease. Molecular biology and diagnosis].
abstract: BACKGROUND
  Von Willebrand disease is the most common inherited disorder of the coagulation proteins in humans. There are three types: 1, 2A, 2B, 2N, 2M and 3. It is associated with mutations on chromosome 12 in the region p13.2, encoding the von Willebrand factor (VWF), which is synthesized in endothelial cells and megakaryocytes.
  
  
  CONCLUSIONS
  The VWF gene has been characterised using molecular biology techniques, which have acquired an important role in diagnosis von Willebrand disease, as well as in the investigation of alterations in other genes, which may be involved in regulating the synthesis, processing, and secretion of VWF. However, there are still no strategies to integrate the molecular biology diagnostic tests available. Analysis of VWF multimers is a methodology that meets the characteristics for diagnosis, but it is not easy to standardise. Considering that even in tertiary centres in our country, von Willebrand patients do not have a definitive diagnosis, it is necessary to implement these methodologies to study and improve diagnosis.
  
  
  CONCLUSIONS
  Von Willebrand disease is highly heterogeneous due to the molecular mechanisms that produce the various clinical and laboratory phenotypes. In Mexico there are few studies related to this disease; therefore it is essential to conduct a comprehensive study including clinical, basic, and special testing laboratory tests, in order to establish a correct diagnosis, develop new therapeutic approaches, and offer the appropriate medical care and genetic counselling.
authors.affiliation: Servicio de Genética, Instituto Nacional de Rehabilitación (INR), Secretaría de Salud (S.S.), México D.F., México. Electronic address: edgarhz1969@yahoo.com.mx.
authors.forename: Edgar
authors.initials: E
authors.lastname: Hernández-Zamora
authors.affiliation: Laboratorio Central de Patología Clínica, INR, Secretaría de Salud, México D.F., México.
authors.forename: Cesar
authors.initials: C
authors.lastname: Zavala-Hernández
authors.affiliation: Banco Central de Sangre, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (IMSS), México D.F., México.
authors.forename: Sandra
authors.initials: S
authors.lastname: Quintana-González
authors.affiliation: Laboratorio de Citología. Departamento de Morfología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, México D.F., México.
authors.forename: Elba
authors.initials: E
authors.lastname: Reyes-Maldonado
mesh_terms: D006801:Humans; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D014841:von Willebrand Factor
keywords: Enfermedad de von Willebrand; Factor de von Willebrand; Von Willebrand disease; Von Willebrand factor