title: Variation of the non-factor VIII sequences detected by a probe from intron 22 of the factor VIII gene.
abstract: A severe hemophilia A family has been studied with the factor VIII (F.VIII) intragenic XbaI polymorphism. During this investigation, a new variant hybridization pattern was observed with important implications concerning the non-F.VIII DNA sequences detected by the probe from intron 22, p482.6. Both Southern hybridization studies and direct analysis of amplified DNA demonstrated a variant form of the non-F.VIII sequences. This variant DNA sequence has not been responsible for any detectable phenotypic abnormalities, and likely represents a polymorphic change. In conclusion, this study has shown that the non-F.VIII sequences detected with the probe p482.6 are situated on the X chromosome, they seem to be present in two copies, and either or both copies infrequently possess a polymorphic XbaI site or a partial deletion.
authors.affiliation: Department of Pathology, Queen's University, Kingston, Ontario, Canada.
authors.forename: D P
authors.initials: DP
authors.lastname: Lillicrap
authors.forename: S A
authors.initials: SA
authors.lastname: Taylor
authors.forename: P C
authors.initials: PC
authors.lastname: Schuringa
authors.forename: V S
authors.initials: VS
authors.lastname: Blanchette
authors.forename: J K
authors.initials: JK
authors.lastname: Lovsted
authors.forename: L J
authors.initials: LJ
authors.lastname: Weiler
authors.forename: P J
authors.initials: PJ
authors.lastname: Bridge
mesh_terms: D015139:Blotting, Southern; D015342:DNA Probes; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics; D006801:Humans; D007438:Introns; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005169:Factor VIII