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Determination of factor IX allotypes for carrier identification in haemophilia B
Author(s) -
Wallmark A.,
Ljung R.,
Nilsson I. M.
Publication year - 1987
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1987.tb06164.x
Subject(s) - haemophilia b , factor ix , allele , haemophilia a , haemophilia , genotype , genetics , complement factor b , biology , immunology , antibody , virology , medicine , complement system , gene
Summary. 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 many Swedish families with haemophilia B.