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DP Lillicrap, SA Taylor, PC Schuringa, VS Blanchette, JK Lovsted, LJ Weiler and PJ Bridge
Department of Pathology, Queen's University, Kingston, Ontario, Canada.
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.
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