A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain

Ryad Tamouza, K. Sadki, V. Schaeffer, E. Carbonnelle, Zohreh Tatari Calderone, J. Chabod, A. Toubert, C. Raffoux, C. Sayada, D. Charron

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12 Citations (Scopus)

Abstract

We describe in this work a novel HLA-B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA-B allele as a B-blank, Bw-blank. Retrospective DNA typing by polymerase chain reaction using sequence-specific. primers (PCR-SSP) has established the correspondence of this blank allele with the classical HLA-B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the α1 domain, providing the most likely mechanism underlying the observed null phenotype.

Original languageEnglish
Pages (from-to)378-380
Number of pages3
JournalTissue Antigens
Volume55
Issue number4
DOIs
Publication statusPublished - 2000
Externally publishedYes

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Keywords

  • HLA-B40
  • Null allele
  • Stop codon

ASJC Scopus subject areas

  • Immunology
  • Cell Biology

Cite this

Tamouza, R., Sadki, K., Schaeffer, V., Carbonnelle, E., Tatari Calderone, Z., Chabod, J., Toubert, A., Raffoux, C., Sayada, C., & Charron, D. (2000). A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the α1 domain. Tissue Antigens, 55(4), 378-380. https://doi.org/10.1034/j.1399-0039.2000.550414.x