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Nucleic Acids Research, 1991, Vol. 19, No. 18 4821-4833
© 1991

SURVEY AND SUMMARY

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

E.G.D. Tuddenham, D.N. Cooper1, J. Gitschier2, M. Higuchi3, L.W. Hoyer4, A. Yoshioka5, I.R. Peake6, R. Schwaab7, K. Olek7, H.H. Kazazian3, J.M. Lavergne8, F. Giannelli9 and S.E. Antonarakis3

Haemostasis Research Group, Clinical Research Centre Harrow, HA1 3UJ 1Charter Molecular Genetics Laoratory, Thrombosis Research Institute Manresa Road, London SW3 6LR, UK 2Department of Medicine and Howard Hughes Medical Institute, University of California San Francisco 3Johns Hopkins University Baltimore 4American Red Cross Rockville, USA 5Nara Medical College Kashihara City, Nara, Japan 6Royal Hallamshire Hospital Sheffileld, UK 7Institut fuer Klinische Biochemie der Universitaet Bonn FRG 8Hôpital de Bicëtre Le Kremlin-Bicëtre, France 9Guy's Hospital London, UK

Received June 12, 1991. Accepted August 12, 1991.

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.


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