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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


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  Copyright © 1990 by American Society of Hematology         Online ISSN: 1528-0020