A nucleotide insertion in exon 4 is responsible for the absence of expression of an HLA-A*01 allele

1 October 1997

journal article
Published by Wiley in Tissue Antigens

Vol. 50 (4) , 347-350
https://doi.org/10.1111/j.1399-0039.1997.tb02885.x

Abstract

HLA class I typing performed in parallel by molecular biology and serology has revealed cases where an HLA class I allele was identified whereas the corresponding antigen was not detected on the cell surface. In the present report, we describe four members of a family in whom an HLA-A1 allele identified at the molecular level was typed as A "blank" by lymphocytotoxicity. This serologically blank antigen was undetectable by isoelectric focusing (IEF). Sequencing of the HLA-A*01 allele from the promoter region to the eighth exonic region revealed insertion of a "C" nucleotide at the beginning of the fourth exon as compared to the common HLA-A*0101 allele. This mutation causes a frame shift, giving rise to an early stop codon in the fourth exon.

Keywords

This publication has 8 references indexed in Scilit:

An intronic mutation responsible for a low level of expression of an HLA‐A*24 allele
Tissue Antigens, 1997
Nomenclature for factors of the HLA system, 1996
Tissue Antigens, 1997
Stable inheritance of an HLA‐“blank' phenotype associated with a structural mutation in the HLA‐A*0301 gene
Tissue Antigens, 1996
HLA-A null allele with a stop codon, HLA-A * 0215N, identified in a homozygous state in a healthy adult
Immunogenetics, 1995
HLA class I allele (HLA-A2) expression defect associated with a mutation in its enhancer B inverted cat box in two families
Human Immunology, 1994
Tissue typing the HLA-A locus from genomic DNA by sequence-specific PCR: comparison of HLA genotype and surface expression on colorectal tumor cell lines.
Proceedings of the National Academy of Sciences, 1993
Nucleotide sequence of an HLA-A1 gene
Nucleic Acids Research, 1990
An altered splice site is found in the DRB4 gene that is not expressed in HLA-DR7, Dw11 individuals
Immunogenetics, 1989