Stable inheritance of an HLA-"blank" phenotype associated with a structural mutation in the HLA-A*0301 gene.
A serological family study identified an HLA-A "blank" segregating through three generations of apparently healthy individuals. The HLA-A*0301 allele was assigned by DNA genotyping in each of the three individuals. Complete absence of cellular expression of the HLA-A3 antigen was associated with a 6 nucleotide deletion in exon 3 of the A*0301 gene. The in-frame deletion of nucleotides 373-378 results in the absence of residues C101 and D102 from the mature HLA-A heavy chain. Cysteine 101 is involved in the formation of the highly conserved disulfide bridge in the alpha 2 domain of the class I molecule, and deletion of this residue is believed to be highly disruptive to proper folding and function of the class I molecule.
Lienert
K
K
Transplantation Immunology Laboratory, Queen Elizabeth Hospital, Woodville, Australia.
Russ
G
G
Lester
S
S
Bennett
G
G
Gao
X
X
McCluskey
J
J
D001483:Base Sequence; D005434:Flow Cytometry; D015791:HLA-A3 Antigen / Q000096:biosynthesis* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000276:immunology*; D010375:Pedigree; D010641:Phenotype
D015791:HLA-A3 Antigen