Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
Rev. biol. trop
; Rev. biol. trop;52(3): 521-530, sept. 2004. tab, ilus
Article
em En
| LILACS
| ID: lil-501729
Biblioteca responsável:
BR1.1
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Fator IX
/
Fator VIII
/
Hemofilia B
/
Hemofilia A
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
America central
/
Costa rica
Idioma:
En
Revista:
Rev. biol. trop
Assunto da revista:
BIOLOGIA
/
MEDICINA TROPICAL
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Costa Rica
/
Alemanha
País de publicação:
Costa Rica