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Journals and Conferences
Human leukocyte antigen (HLA) typing has been a challenge for more than 50 years. Current methods (Sanger sequencing, sequence-specific primers [SSP], sequence-specific oligonucleotide probes [SSOP]) continue to generate ambiguities that are time-consuming and expensive to resolve. However, next-generation sequencing (NGS) overcomes ambiguity through the… (More)
This study presents performance specifications of an in-house developed human leukocyte antigen (HLA) typing assay using next-generation sequencing (NGS) on the Illumina MiSeq platform. A total of 253 samples, previously characterized for HLA-A, -B, -C, -DRB1 and -DQB1 were included in this study, which were typed at high-resolution using a combination of… (More)
HLA-A*23:50 differs from HLA-A*23:01:01 by one nucleotide at position 112 resulting in an amino acid change, Arginine to Tryptophan, at codon 14 of exon 2.
The new HLA-DQB1 allele most closely resembles DQB1*02:01:01, differing at a single position 141 (exon 2, codon 15.3).
This report describes a new DRB1 allele, identified in a caucasoid individual, which has an identical sequence to DRBI*l l02 except at the location of codon 86. The nucleotide substitution (GTG to GGT) at this codon corresponds to an amino acid substitution in the new allele. Genomic DNA was extracted from 10 gl frozen whole blood using Chelex-100 resin… (More)
HLA-C*04:112 differs from HLA-C*04:01:01:01 by one nucleotide at position 270 resulting in an amino acid change, Lysine to Asparagine, at codon 66 of exon 2.