Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor.
Genomic DNA from 49 Italian patients affected with severe haemophilia A was analysed by Southern blotting technique using a cDNA probe corresponding to exons 14-26 of coagulation factor VIII. No TaqI site mutation was observed in this sample. A partial deletion, eliminating exons 15-18 and spanning about 13kb, was identified and characterized in one patient with anti-factor VIII antibodies.
Bardoni
B
B
Dipartimento di Genetica e Microbiologia, Università di Pavia, Italy.
Sampietro
M
M
Romano
M
M
Crapanzano
M
M
Mannucci
P M
PM
Camerino
G
G
D000906:Antibodies / Q000032:analysis; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005091:Exons; D005169:Factor VIII / Q000235:genetics* / Q000276:immunology; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009154:Mutation
D000906:Antibodies; D005169:Factor VIII; D004247:DNA; D004262:DNA Restriction Enzymes