Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/193815
Type: Artigo de periódico
Title: Eleven Novel Mutations In The Factor Viii Gene From Brazilian Hemophilia A Patients.
Author: Arruda, V R
Pieneman, W C
Reitsma, P H
Deutz-Terlouw, P P
Annichino-Bizzacchi, J M
Briët, E
Costa, F F
Abstract: The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.
Subject: Base Sequence
Brazil
Exons
Factor Viii
Hemophilia A
Humans
Molecular Sequence Data
Mutation
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-stranded Conformational
Sequence Deletion
Silver Staining
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/7579394
Date Issue: 1995
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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