The putative factor IX gene promoter in hemophilia B Leyden

P. H. Reitsma, R. M. Bertina, J. K. Ploos van Amstel, A. Riemens, E. Briet

Research output: Contribution to journalArticleAcademicpeer-review

59 Citations (Scopus)

Abstract

Hemophilia B Leyden is characterized by low levels of factor IX antigen and activity before the age of 15, whereas after puberty factor IX levels rise at a rate of about 5% per year. A single substitution (-A→T) at position -20 was identified in the putative promoter of the gene cloned from a patient with hemophilia B Leyden. This nucleotide change was confirmed in a second patient from the same pedigree and was also found in a patient from a second Dutch pedigree with the same hemophilic phenotype. The results indicate that the two Dutch kindreds are related and point to the functional significance of the -20 position for the expression of the human factor IX gene.

Original languageEnglish
Pages (from-to)1074-1076
Number of pages3
JournalBlood
Volume72
Issue number3
Publication statusPublished - 1 Jan 1988

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