Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

Tuddenham, E. G. D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Gitschier, J., Higuchi, M., Hoyer, L. W., Yoshioka, A., Peake, I. R., Schwaab, R., Olek, K., Kazazian, H. H., Lavergne, J. M., Giannelli, F. and Antonarakis, S. E. 1991. Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Research 19 (18) , pp. 4821-4833. 10.1093/nar/19.18.4821

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Oxford University Press
ISSN:	0305-1048
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62034

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