Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica

 

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Autores: Salazar-Sánchez, Lizbeth, Jiménez-Cruz, Guillermo, Chaverri, Pilar, Schröder, Winnie, Wulff, Karin, Jiménez-Arce, Gerardo, Sandoval, Miriam, Ramírez, Patricia, Herrmann, F H
Formato: artículo original
Estado:Versión publicada
Fecha de Publicación:2004
Descripción:Hemophilia Aand B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers.
País:Portal de Revistas UCR
Institución:Universidad de Costa Rica
Repositorio:Portal de Revistas UCR
Lenguaje:Inglés
OAI Identifier:oai:portal.ucr.ac.cr:article/15292
Acceso en línea:https://revistas.ucr.ac.cr/index.php/rbt/article/view/15292
Access Level:acceso abierto
Palabra clave:hemophilia A
hemophilia B
factor IX
factor VIII
molecular diagnosis
carrier detection
hemofilia A
hemofilia B
diagnóstico molecular
detección de portadores