A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.
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.
D002872:Chromosome Deletion; D004815:Epidermal Growth Factor / Q000235:genetics; D005164:Factor IX / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D004815:Epidermal Growth Factor; D005164:Factor IX