Identification of the Novel HLA-A*33:03:68 Allele in a Chinese Platelet Donor.

The novel HLA-A*33:03:68 allele differs from HLA-A*33:03:01:01 by 1 variation in exon 3.

Identification of the novel allele HLA-A*02:1144 in a Chinese platelet donor.

The novel HLA-A*02:1144 allele differs from HLA-A*02:03:01:01 by 3 nucleotides in exon 7.

Genomic full-length sequence of the HLA-B*40:86 allele identified in a Chinese individual.

HLA-B*40:86 differs from B*40:06:01:03 by a single nucleotide exchange in exon 3.

[The Polymorphism Analysis of HLA Class II Alleles Based on Next-Generation Sequencing and Prevention Strategy for Allele Dropout].

Objective: To investigate the accuracy of next-generation sequencing technology (NGS) in detecting the polymorphisms of and alleles in randomly-selected unrelated healthy individuals from Shenzhen Han population, investigate the potential reason for allele dropout in routine NGS, and establish an internal quality control system.

Methods: NGS-based HLA class II genotyping was performed on 1 012 samples using the MiSeqDx platform. The suspected missed alleles indicated by the quality control software and homozygotes were confirmed by PCR-SSOP or PCR-SBT methods.

Full-length sequence of the novel allele, HLA-B*58:01:40, identified in a Chinese individual.

HLA-B*58:01:40 differs from HLA-B*58:01:01 by a single nucleotide change in exon 3, 507 C- > T (codon 145.3 CGC- > CGT).

Discovery of the novel HLA-A*11:452N allele by next-generation sequencing in a Chinese individual.

HLA-A*11:452N differs from A*11:01:01:01 by a single nucleotide exchange in exon 1.

Genomic sequence of the novel HLA-A*26:206:02N allele, identified in a patient with hepatitis B infection.

HLA-A*26:206:02N differs from A*26:01:01:01 by a single nucleotide exchange in exon 3.

[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.

A novel HLA-C null allele, HLA-C*08:236N, identified by next-generation sequencing in a Chinese individual.

HLA-C*08:236N differs from C*08:01:01 by a single nucleotide exchange in exon 5 at position 1991.

Discovery of the HLA-C*08:99 allele in a Chinese individual.

HLA-C*08:99 differs by one non-synonymous nucleotide from C*08:01:01 in exon 5, codon 288 GTT>ATT.

A novel HLA-A null allele, HLA-A*31:188N, identified by next-generation sequencing in a Chinese individual.

The HLA-A*31:188N allele differs from A*31:01:02:01 by a single nucleotide deletion in exon 3.

Identification of the novel HLA-DRB3*02:02:19 allele.

The HLA-DRB3*02:02:19 allele differs from DRB3*02:02:01:02 by a single nucleotide change in exon 2.

Identification of the HLA-DPA1*02:33 allele by next-generation sequencing in a Chinese individual.

The HLA-DPA1*02:33 allele differs from DPA1*02:02:02:04 by two nucleotide change in exon 4.

Identification of HLA-DQB1*03:222 by cloning and sequencing in a Chinese individual.

HLA-DQB1*03:222 differs from HLA-DQB1*03:03:02:01 by a single nucleotide change in exon 3.

Full-length sequence of a novel allele, HLA-B*40:01:45, identified in a patient with hepatitis B infection.

HLA-B*40:01:45 differs from HLA-B*40:01:02 by a single nucleotide change in exon 1, 33 G > A (codon -14 CTG > CTA).

Identification of HLA-A*24:02:78 by next-generation sequencing in a Chinese Han individual.

HLA-A*24:02:78 differs from HLA-A*24:02:01:01 in exon 3 by a single nucleotide.

[Establishment of a large-scale bi-directional sequencing and genotyping platform for MICA gene exons 2 to 4].

Objective: To establish a stable and large-scale bi-directional sequencing platform for genotyping MICA gene exons 2 to 4, and to analyze single nucleotide polymorphisms(SNP) of the region.

Methods: Primers for particular alleles of MICA gene exons 2 to 5 were designed. Optimal conditions for PCR amplification and sequencing reaction were explored.

[Cloning and sequencing analysis of a novel allele HLA-A*02:251].

Objective: To identify a novel human leukocyte antigen (HLA) allele A*02:251 and analyze the sequences in Chinese population.

Methods: Routine HLA-A, -B, -DRB1 high resolution genotyping for healthy Chinese donors and patients was performed with polymerase chain reaction-sequence based typing. An unknown HLA-A allele was initially detected by HLA typing in the healthy donor.

[Recombination of HLA haplotypes in Guangdong Han nationality].

Objective: To analyze the human leukocyte antigen complex class I (-A, -B & -C) and class II (-DRB1 & -DQB1) linked haplotypes of Guangdong Han nationality and to study the recombination events of five classical loci in the inheritance of HLA haplotypes.

Methods: A total of 939 peripheral blood samples were collected from 198 families in Guangdong Han nationality who came to our center for HLA typing from 2000 August to 2009 December. HLA-(A, B & DRB1) and HLA-(C & DQB1) alleles were typed by low-resolution polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSO) and PCR-sequence specific primers (PCR-SSP) methods respectively.