title: Factor VIII gene deletions in haemophilia A patients in Czechoslovakia.
abstract: Genomic DNA from 90 Czechoslovak haemophilia A patients from 81 pedigrees was analysed by Southern blotting and hybridization with factor VIII cDNA probes. Three partial deletions of the factor VIII gene were identified and characterized: a 4.8 kilobase (kb) deletion eliminating exon 10 in one patient with severe haemophilia A without inhibitor, a 6.1 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in two related severe haemophiliacs, but only one of them produced inhibitor, and a 4.6 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in a severe haemophiliac with high-titre inhibitor. Besides these three deletions, three different restriction site variants without apparent loss of DNA sequence were found.
authors.affiliation: Institute of Haematology and Blood Transfusion, Praha, Czechoslovakia.
authors.forename: A
authors.initials: A
authors.lastname: Krepelová
authors.forename: Z
authors.initials: Z
authors.lastname: Vorlová
authors.forename: J
authors.initials: J
authors.lastname: Zavadil
authors.forename: R
authors.initials: R
authors.lastname: Brdicka
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D009693:Nucleic Acid Hybridization
chemical_list: D015342:DNA Probes; D005169:Factor VIII; D004247:DNA