A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A

British Journal of Haematology
F BernardiG Marchetti

Abstract

The presence of gene lesions in coagulation factor VIII (FVIII) gene was investigated in 70 Italian patients severely affected by haemophilia A. cDNA probes specific for exons 14-26 of the FVIII gene were used. In two related patients a gene deletion removes exon 26, a gene lesion similar to that described previously in a British haemophiliac. In exon 24 a C to T transition in the reverse complement strand causes a missense mutation in the coding strand (CGA----CAA, 2209 Arg----Gln). The mutation is located in a very conserved FVIII homology region and severely reduces FVIII activity. By restriction analysis and hybridizations with oligonucleotide probes this gene alteration was found in two unrelated haemophiliacs and in their relatives.

References

Jan 1, 1975·Advances in Human Genetics·F Vogel, R Rathenberg
Nov 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·C A FulcherT S Zimmerman
Feb 1, 1988·British Journal of Haematology·F BernardiG Marchetti
Apr 1, 1988·Human Genetics·F BernardiG Marchetti
Oct 3, 1985·The New England Journal of Medicine·S E AntonarakisD N Fass
Jun 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·G AngeliniB Mach
Jun 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·H YoussoufianH H Kazazian
Jan 1, 1987·IMA Journal of Mathematics Applied in Medicine and Biology·D Y DownhamM Sjöström
Jul 7, 1984·Lancet·K HarperE G Tuddenham
Nov 22, 1984·Nature·J GitschierR M Lawn

❮ Previous
Next ❯

Citations

Oct 1, 1989·Baillière's Clinical Haematology·E G Tuddenham
May 1, 1997·Movement Disorders : Official Journal of the Movement Disorder Society·P G ComoI Shoulson
Jan 1, 1995·Human Mutation·S E AntonarakisE G Tuddenham
Mar 1, 1992·European Journal of Haematology·M S FigueiredoM A Zago

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.