title: A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A.
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.
authors.affiliation: Centro di Studi Biochimici sul Morbo di Cooley, Università di Ferrara, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
authors.forename: S
authors.initials: S
authors.lastname: Volinia
authors.forename: P
authors.initials: P
authors.lastname: Patracchini
authors.forename: D
authors.initials: D
authors.lastname: Gemmati
authors.forename: S
authors.initials: S
authors.lastname: Boninsegna
authors.forename: C
authors.initials: C
authors.lastname: Schwienbacher
authors.forename: G
authors.initials: G
authors.lastname: Marchetti
mesh_terms: D002872:Chromosome Deletion; D015342:DNA Probes; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D015345:Oligonucleotide Probes; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D015345:Oligonucleotide Probes; D005169:Factor VIII