Open AccessHaemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene
Author(s) -
Edward G. D. Tuddenham,
David Neil Cooper,
Jane Gitschier,
Miyoko Higuchi,
Leon W. Hoyer,
Akira Yoshioka,
I. R. Peake,
R. Schwaab,
K. Olek,
Haig H. Kazazian,
J. M. Lavergne,
F. Giannelli,
S. E. Antonarakis
Publication year - 1991
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/19.18.4821
Subject(s) - biology , genetics , missense mutation , haemophilia a , locus (genetics) , gene , nonsense mutation , point mutation , mutation , allele , genotype , haemophilia
Mutations at the factor VIII gene locus causing Haemophilia A have now been identified in many patients from many ethnic groups. Earlier studies used biased methods which detected repetitive mutations at a few CG dinucleotides. More recently rapid gene scanning methods have uncovered an extreme diversity of mutations. Over 80 different point mutations, 6 insertions, 7 small deletions, and 60 large deletions have been characterised. Repetitive mutation has been proved for at least 16 CpG sites. All nonsense mutations cause severe disease. Most missense mutations appear to cause instability of the protein, but some are associated with production of dysfunctional factor VIII molecules, thereby localising functionally critical regions of the cofactor. Variable phenotype has been observed in association with three of the latter class of genotype. This catalogue of gene lesions in Haemophilia A will be updated annually.