Determination of factor IX allotypes for carrier identification in haemophilia B

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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.

Detaljer

Författare
Enheter & grupper
Externa organisationer
  • Lund University
Originalspråkengelska
Sidor (från-till)427-432
Antal sidor6
TidskriftBritish Journal of Haematology
Volym67
Utgåva nummer4
StatusPublished - 1987 jan 1
PublikationskategoriForskning
Peer review utfördJa