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Type: Journal article
Title: Stable inheritance of an HLA-"blank" phenotype associated with a structural mutation in the HLA-A*0301 gene
Author: Lienert, K.
Russ, G.
Lester, S.
Bennet, G.
Gao, X.
McCluskey, J.
Citation: Tissue Antigens, 1996; 48(3):187-191
Issue Date: 1996
ISSN: 0001-2815
Abstract: A serological family study identified an HLA-A “blank” segregating through three generations of apparently healthy individuals. The HLAA*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 ClOl and D102 from the mature HLA-A heavy chain. Cysteine 10 1 is involved in the formation of the highly conserved disulfide bridge in the a2 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.
Keywords: Humans; HLA-A3 Antigen; Flow Cytometry; Pedigree; Base Sequence; Phenotype; Mutation; Molecular Sequence Data
RMID: 0030004745
DOI: 10.1111/j.1399-0039.1996.tb02627.x
Appears in Collections:Medicine publications

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