Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
Rev. biol. trop
;
52(3): 521-530, sept. 2004. tab, ilus
Artigo
em Inglês
| LILACS
| ID: lil-501729
ABSTRACT
Hemophilia A and 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Fator IX
/
Fator VIII
/
Hemofilia B
/
Hemofilia A
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América Central
/
Costa Rica
Idioma:
Inglês
Revista:
Rev. biol. trop
Assunto da revista:
Biologia
/
Medicina Tropical
Ano de publicação:
2004
Tipo de documento:
Artigo
País de afiliação:
Costa Rica
/
Alemanha
Instituição/País de afiliação:
Ernst-Moritz-Arndt-University/DE
/
Hospital México/CR
/
Universidad de Costa Rica/CR
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