A de novo intragenic deletion of the potential EGF domain of the factor IX
gene in a family with severe hemophilia B
M Vidaud, C Chabret, C Gazengel, L Grunebaum, JP Cazenave and M Goossens
We have studied a family of three patients who were severely afflicted with
hemophilia B without inhibitor for their factor IX genes through the use of
factor IX cDNA and genomic DNA probes. The patients had detectable (30% of
normal) factor IX antigen. DNA hybridization analysis demonstrated that
these patients had a partial intragenic deletion in their factor IX gene.
This 2.8-kb deletion included exon d and the surrounding sequences. This
exon codes for the amino acid sequence from No. 47 through 84 of the factor
IX protein and contains its first potential EGF domain; the de novo
occurrence of the mutation in the grandfather's germ cells was established
by linkage analysis. This specific gene has been named F IXStrasbourg.
Volume 68,
Issue 4,
pp. 961-963,
10/01/1986
Copyright © 1986 by The American Society of Hematology
