Molecular cloning and characterization of decay-accelerating factor deficiency in Cromer blood group Inab phenotype.
An additional decay-accelerating factor (DAF) mutation, designated as Inab phenotype in the Cromer blood group system, was recently identified in a 28-year-old Japanese woman (H.A.). The red blood cells of H.A., like those of other Inab phenotype individuals, were negative for Cromer system antigens, Cra, Tca, Dra, UMC, and IFC. The deficiency of DAF on the red blood cells of H.A. has been shown by immunoblotting with a murine monoclonal antibody to DAF. Molecular analysis has shown that H.A. is homozygous for a single nucleotide substitution, C1579-->A, at the position 24 bp upstream of the 3'-end of exon 2 of the DAF gene. This substitution causes the activation of a novel cryptic splice site and results in the production of mRNA with a 26 bp deletion. The deletion introduces a reading frame shift and creates a stop codon immediately downstream of the deletion. Translation of mRNA would be terminated at the first amino acid residue of the second short consensus repeat (SCR2) domain (exon 3) of DAF. The functional domains of DAF's complement regulatory activity and the carboxy-terminal signal domains for glycosylphosphatidylinositol (GPI) anchoring are predicted to be lacking in H.A. Thus, there would be no DAF present on the cell surface.
Wang
L
L
Japanese Red Cross Central Blood Center, Tokyo, Japan.
Uchikawa
M
M
Tsuneyama
H
H
Tokunaga
K
K
Tadokoro
K
K
Juji
T
T
D000328:Adult; D017398:Alternative Splicing; D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D003001:Cloning, Molecular; D005260:Female; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017421:Sequence Analysis
D001789:Blood Group Antigens; D008562:Membrane Glycoproteins