A nucleotide insertion in exon 4 is responsible for the absence of expression of an HLA-A*01 allele.
Tissue Antigens
; 50(4): 347-50, 1997 Oct.
Article
em En
| MEDLINE
| ID: mdl-9349617
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genes MHC Classe I
/
Antígeno HLA-A1
/
Éxons
/
Mutação da Fase de Leitura
/
Mutagênese Insercional
/
Alelos
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article