Non-expression of HLA-B*5111N is caused by an insertion into the cytosine island at exon 4 creating a frameshift stop codon
- 1 April 2001
- journal article
- Published by Wiley in Tissue Antigens
- Vol. 57 (4) , 369-372
- https://doi.org/10.1034/j.1399-0039.2001.057004369.x
Abstract
The identification of the "blank" allele HLA-B*5111N, which was detected in German and Czech individuals, is described. In the pedigree analysis this new allele segregates with the serological haplotype HLA-A2; B-; DR4 which is frequent in Czech population. The non-expression of B*5111N is caused by the insertion of an additional cytosine molecule at the cytosine island between the nucleotides 621-626 (codons 183-185, first three codons of exon 4) leading to a frame shift that creates a stop codon at codon 196. This insertion may be explained either by conversion with the pseudogene HLA-J or by slipped-strand mispairing. In order not to overlook the presence of alleles with altered expression in case of hematopoietic stem cell transplantation, both serological and DNA-based typing should be performed (Note).Keywords
This publication has 21 references indexed in Scilit:
- A novel HLA‐B null allele (B*4022N) generated by a nonsense codon in the α1 domainTissue Antigens, 2000
- An HLA-B null allele (B*0808N) caused by a nucleotide deletion in exon 3, found in the family of a bone marrow transplant recipientTissue Antigens, 2000
- SEQUENCING OF TWO HLA-A BLANK ALLELES: IMPLICATIONS IN UNRELATED BONE MARROW DONOR MATCHING1Transplantation, 1999
- Aberrant splicing of intron 1 creates a novel null HLA‐B*1501 alleleTissue Antigens, 1999
- An intronic mutation responsible for a low level of expression of an HLA‐A*24 alleleTissue Antigens, 1997
- Filling in the blanksTissue Antigens, 1997
- A nucleotide insertion in exon 4 is responsible for the absence of expression of an HLA-A*01 alleleTissue Antigens, 1997
- Sequencing of HLA class I genes based on the conserved diversity of the noncoding regions: sequencing‐based typing of the HLA‐A geneTissue Antigens, 1997
- Stable inheritance of an HLA‐“blank' phenotype associated with a structural mutation in the HLA‐A*0301 geneTissue Antigens, 1996
- HLA class I allele (HLA-A2) expression defect associated with a mutation in its enhancer B inverted cat box in two familiesHuman Immunology, 1994