Determination of factor IX allotypes for carrier identification in haemophilia B

Research output: Contribution to journalArticle

Abstract

The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable diagnosis based on phenotypic studies, though its usefulness is limited due to ethnic variation in allelic frequency. Determination of factor IX allotypes should be useful for carrier detection in any Swedish families with haemophilia B.

Details

Authors
Organisations
External organisations
  • Lund University
Original languageEnglish
Pages (from-to)427-432
Number of pages6
JournalBritish Journal of Haematology
Volume67
Issue number4
Publication statusPublished - 1987 Jan 1
Publication categoryResearch
Peer-reviewedYes