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|Title:||Stable inheritance of an HLA-"blank" phenotype associated with a structural mutation in the HLA-A*0301 gene|
|Citation:||Tissue Antigens, 1996; 48(3):187-191|
|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|
|Appears in Collections:||Medicine publications|
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