title: Non-expression of HLA-B*5111N is caused by an insertion into the cytosine island at exon 4 creating a frameshift stop codon.
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).
authors.affiliation: Department of Transfusion Medicine, Hannover Medical School, Hannover, Germany.
authors.forename: H A
authors.initials: HA
authors.lastname: Elsner
authors.forename: J
authors.initials: J
authors.lastname: Drábek
authors.forename: V
authors.initials: V
authors.lastname: Rebmann
authors.forename: Z
authors.initials: Z
authors.lastname: Ambruzova
authors.forename: H
authors.initials: H
authors.lastname: Grosse-Wilde
authors.forename: R
authors.initials: R
authors.lastname: Blasczyk
mesh_terms: D000483:Alleles; D018388:Codon, Terminator / Q000235:genetics* / Q000276:immunology; D003596:Cytosine; D016368:Frameshift Mutation / Q000276:immunology; D020868:Gene Silencing / Q000276:immunology; D015235:HLA-B Antigens / Q000096:biosynthesis* / Q000235:genetics*; D059949:HLA-B51 Antigen; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000276:immunology; D016133:Polymerase Chain Reaction
chemical_list: D018388:Codon, Terminator; D015235:HLA-B Antigens; D059949:HLA-B51 Antigen; D003596:Cytosine