info:eu-repo/semantics/article
Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
Autor
Salazar-Sánchez,Lizbeth
Jiménez-Cruz,Guillermo
Chaverri,Pilar
Schröder,Winnie
Wulff,Karin
Jiménez-Arce,Gerardo
Sandoval,Miriam
Ramírez,Patricia
Herrmann,F.H
Institución
Resumen
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. Rev. Biol. Trop. 52(3): 521-530. Epub 2004 Dic 15.