Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
Saved in:
| Authors: | , , , , , , , , |
|---|---|
| Format: | artículo original |
| Status: | Versión publicada |
| Publication Date: | 2004 |
| Description: | 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. |
| Country: | Portal de Revistas UCR |
| Institution: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Language: | Inglés |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/15292 |
| Online Access: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/15292 |
| Keyword: | hemophilia A hemophilia B factor IX factor VIII molecular diagnosis carrier detection hemofilia A hemofilia B diagnóstico molecular detección de portadores |