Variation of the non-factor VIII sequences detected by a probe from intron
22 of the factor VIII gene
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.
Volume 75,
Issue 1,
pp. 139-143,
01/01/1990
Copyright © 1990 by The American Society of Hematology