ABSTRACT
Three nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-DQB1*03:01:01:54, -DQB1*03:01:01:56, -DQB1*03:01:01:58.
Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-DQ beta-Chains/genetics , IntronsABSTRACT
HLA-DPA1*02:01:25 differs from DPA1*02:01:01:02 by a synonymous transition in exon 2.
Subject(s)
HLA-DP alpha-Chains , High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-DP alpha-Chains/genetics , Exons/geneticsABSTRACT
A missense nucleotide substitution in codon -17 in the leader peptide results in the novel HLA-DRB1*04:354 allele.
Subject(s)
Nucleotides , Valine , Humans , HLA-DRB1 Chains/genetics , Alleles , Valine/genetics , Exons/geneticsABSTRACT
The failure to identify HLA null alleles in bone marrow transplantation could be life-threatening because this could result in an HLA mismatch with the ability to trigger the graft-vs-host disease (GVHD) and to reduce patient's survival. In this report we describe the identification and characterization of the novel HLA-DPA1*02:66:02N allele with a non-sense codon in exon 2. This new allele was discovered in two unrelated bone marrow donors during routine HLA-typing using next-generation sequencing (NGS). DPA1*02:66:02N is homologous to DPA1*02:01:01:03 with a single nucleotide difference in exon 2, codon 50, where the replacement of C located at genomic position 3825 by T, causes the formation of a premature stop codon (TGA), resulting in a null allele. This description illustrates the benefits of HLA typing by NGS since it permits to reduce ambiguities, identify new alleles, analyze multiple HLA loci and improve transplantation outcome.
Subject(s)
Codon, Nonsense , HLA-DP alpha-Chains , Humans , Alleles , HLA-DP alpha-Chains/genetics , Exons/genetics , Codon , Histocompatibility Testing/methodsABSTRACT
A synonymous substitution in exon 2 and intronic insertion results in the novel HLA-DQA1*01:04:07 allele.
