Non-expression of HLA-A*2901102 N is caused by a nucleotide exchange in the mRNA splicing site at the beginning of intron 4

Tissue Antigens. 2002 Feb;59(2):139-41. doi: 10.1034/j.1399-0039.2002.590212.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Exons
  • HLA-A Antigens / genetics*
  • HLA-A Antigens / metabolism
  • Humans
  • Introns*
  • Molecular Sequence Data
  • Point Mutation*
  • RNA Splice Sites*
  • RNA Splicing
  • RNA, Messenger / metabolism*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • HLA-A Antigens
  • HLA-A29 antigen
  • RNA Splice Sites
  • RNA, Messenger

Associated data

  • GENBANK/AJ293507
  • GENBANK/AJ303359