A nucleotide insertion in exon 4 is responsible for the absence of expression of an HLA-A*01 allele |
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Authors: | M Laforet N Froelich A Parissiadis B Pfeiffer A Schell B Faller M-L Woehl-Jaegle J-P Cazenave M-M Tongio |
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Institution: | Laboratoire d'Histocompatibilité, Strasbourg;Etablissement de Transfusion Sanguine, Strasbourg;Service de Nephrologie, Hospices Civils de Colmar, Colmar;Unitéde transplantation, Höpital de Hautepierre, Strasbourg, France |
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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-A 1 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. |
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Keywords: | HLA-A polymorphism HLA-A "blank" allele HLA-A*01 |
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