Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
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| Autoři: | , , , , , , , , |
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| Médium: | artículo original |
| Stav: | Versión publicada |
| Datum vydání: | 2004 |
| Popis: | 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. |
| Země: | Portal de Revistas UCR |
| Instituce: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Jazyk: | Inglés |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/15292 |
| On-line přístup: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/15292 |
| Klíčové slovo: | hemophilia A hemophilia B factor IX factor VIII molecular diagnosis carrier detection hemofilia A hemofilia B diagnóstico molecular detección de portadores |