Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/9160
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
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: immune response genetics, 1996; 48(3):187-191 |
Publisher: | Wiley |
Issue Date: | 1996 |
ISSN: | 0001-2815 1399-0039 |
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 |
DOI: | 10.1111/j.1399-0039.1996.tb02627.x |
Published version: | http://dx.doi.org/10.1111/j.1399-0039.1996.tb02627.x |
Appears in Collections: | Aurora harvest 4 Medicine publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.