title: Molecular analysis of hemophilia A mutations in the Finnish population.
abstract: We have examined the Finnish hemophilia A population for factor VIII gene mutations. This study included 83 unrelated patients and revealed 10 mutations associated with hemophilia. Using cloned cDNA, genomic, and oligonucleotide probes, we have identified three classes of mutations: five mutations causing the loss of TaqI restriction sites, a point mutation resulting in a new TaqI site, and four partial gene deletions. Although exons 5 and 6 were involved in three of the four partial gene deletions, the extent of the DNA lost differs in each case. The fourth deletion was located entirely within intron 1 and segregated with the disease in a large hemophilia pedigree. There was no history of hemophilia in eight of the 10 families. The origin of the mutation was determined in six of these pedigrees, two of which showed evidence for maternal mosaicism.
authors.affiliation: Howard Hughes Medical Institute, University of California, San Francisco 94143.
authors.forename: B
authors.initials: B
authors.lastname: Levinson
authors.forename: A E
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: J
authors.initials: J
authors.lastname: Gitschier
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005387:Finland; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree
chemical_list: D005169:Factor VIII; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases