ABSTRACT
Two different single nucleotide substitutions in intron 2 give rise to novel HLA-DQB1*03:02:01 alleles.
Subject(s)
Alleles , HLA-DQ beta-Chains , Introns , Humans , Histocompatibility Testing , HLA-DQ beta-Chains/genetics , Polymorphism, Single NucleotideABSTRACT
Seven different single nucleotide substitutions in non-coding regions gave rise to novel HLA-DPA1*01:03:01 variants.
Subject(s)
HLA-DP alpha-Chains , High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-DP alpha-Chains/genetics , Histocompatibility TestingABSTRACT
Two transitions in intronic regions give rise to the novel alleles: HLA-DQB1*05:02:01:13 and HLA-DQB1*05:02:01:14.
Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-DQ beta-Chains/genetics , IntronsABSTRACT
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 nonsynonymous nucleotide substitution in exon 1 results in the novel HLA-DQB1*03:493 allele.
