A novel null HLA-B allele, B*40:510N, due to a single nucleotide deletion in exon 2.

One nucleotide deletion in codon 15 of HLA-B*40:01:02:01 results in a novel null allele, HLA-B*40:510N.

A novel HLA-DRB4 allele, HLA-DRB4*01:179.

One nucleotide substitution in codon 30 of HLA-DRB4*01:03:01:01 results in a novel allele, HLA-DRB4*01:179.

Recognition of the HLA-DRB3*03:65 allele in a Chinese individual.

We report a novel HLA-DRB3*03 allele, now named DRB3*03:65, identified by next-generation sequencing.

Next-generation HLA sequencing reveals the novel HLA-A*33:244 allele.

The novel HLA-A*33:244 allele contains a c.553G>A substitution in exon 3 compared with A*33:03:01:01.

Full-length sequence of the novel HLA-B*40:537 allele by next-generation sequencing in a Chinese individual.

One nucleotide substitution in codon 116 of HLA-B*40:06:01:12 results in a novel allele, HLA-B*40:537.

[Using Next-Generation Sequencing Technology to Confirm the HLA Rare Alleles Detected by PCR-SSOP].

OBJECTIVE: To confirm the HLA genotypes of the samples including 4 cases of magnetic bead probe HLA genotyping result pattern abnormality and 3 cases of ambiguous result detected by PCR sequence-specific oligonudeotide probe (SSOP) method. METHODS: All samples derived from HLA high-resolution typing laboratory were detected by PCR-SSOP. A total of 4 samples of magnetic bead probe HLA genotyping result pattern abnormality and 3 samples of ambiguous result were further confirmed by PCR sequence-based typing (SBT) technology and next-generation sequencing (NGS) technology. RESULTS: A total of 4 samples of magnetic bead probe HLA genotyping result pattern abnormality were detected by PCR-SSOP method. The results of SBT and NGS showed that the HLA-A genotype of sample 1 did not match any known genotypes. NGS analysis revealed that the novel allele was different from the closest matching allele A*31:01:02:01at position 154 with G>A in exon 2, which resulting in one amino acid substitution at codon 28 from Valine to Methionine (p.Val28Met). The HLA-C genotype of sample 2 was C*03:119, 06:02, sample 3 was C*03:03, 07:137, and sample 4 was B*55:02, 55:12. A total of 3 samples with ambiguous result were initially detected by PCR-SSOP method. The re-examination results of SBT and NGS showed that the HLA-B genotype of sample 5 was B*15:58, 38:02, sample 6 was DRB1*04:05, 14:101, and sample 7 was DQB1*03:34, 05:02. Among them, alleles C*03:119, C*07:137 and DRB1*14:101 were not included in the Common and Well-documented Alleles (CWD) v2.4 of the Chinese Hematopoietic Stem Cell Donor Database. CONCLUSION: The abnormal pattern of HLA genotyping results of magnetic probe by PCR-SSOP method suggests that it may be a rare allele or a novel allele, which needs to be verified by sequencing.

HLA-DRB1*14:239, a novel HLA-DRB1 allele with one exonic mutation.

HLA-DRB1*14:239 differs from HLA-DRB1*14:03:01 by one nucleotide substitution in codon 82 in exon 2.

Discovery of the novel HLA-A*11:396 allele in a Chinese Han individual.

One nucleotide substitution in codon 73 of HLA-A*11:01:01:01 results in a novel allele, HLA-A*11:396.

Characterization of the novel HLA-A*30:154 allele by next-generation sequencing.

A*30:154 differs from A*30:01:01:01 by one nucleotide substitution at codon 39 in exon 2 from C to A.

Identification of the novel HLA-DQB1*03:13 allele by next-generation sequencing in a Chinese Han individual.

HLA-DQB1*03:13 differs from HLA-DQB1*03:01:01:01 by one nucleotide substitution in codon 67 in exon 2.