title: Non-expression of HLA-A*2901102 N is caused by a nucleotide exchange in the mRNA splicing site at the beginning of intron 4.
abstract: We describe the identification of the novel human leukocyte antigen (HLA) blank allele A*2901102 N which was detected in an individual of mixed race. The serological HLA class I typing was A1; B7,44 whereas PCR-SSP indicated the presence of an additional A*29 allele. The pedigree analysis demonstrated that the new blank allele segregated with the haplotype A*29null B*07, inherited from the individual's Vietnamese father. A single G-->Tau transversion was detected at position 1 of intron 4, which is a highly conserved nucleotide position in vertebrate splice donor sites. Accordingly, it is very likely that this nucleotide exchange inhibits the splicing of intron 4, resulting in a premature stop codon further downstream. Despite this alteration, transcription into mRNA was demonstrated.
authors.affiliation: Department of Transfusion Medicine, Hannover Medical School, Germany.
authors.forename: H-A
authors.initials: HA
authors.lastname: Elsner
authors.forename: G
authors.initials: G
authors.lastname: Bernard
authors.forename: B
authors.initials: B
authors.lastname: Eiz-Vesper
authors.forename: M
authors.initials: M
authors.lastname: de Matteis
authors.forename: A
authors.initials: A
authors.lastname: Bernard
authors.forename: Rainer
authors.initials: R
authors.lastname: Blasczyk
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D015234:HLA-A Antigens / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D017354:Point Mutation; D022821:RNA Splice Sites; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D015234:HLA-A Antigens; C035524:HLA-A29 antigen; D022821:RNA Splice Sites; D012333:RNA, Messenger