[Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion].

Objective: To confirm the sequence of a null allele produced by a base insertion.

Methods: PCR sequence-specific oligonucleotide probe (SSOP) and PCR sequence-based typing (SBT) were used for HLA routine detection, which discovered abnormal sequence maps of in one acute myeloid leukemia patient. The sequence of the above loci was confirmed by next generation sequencing (NGS) technology.

Two novel HLA class II alleles, HLA-DRB1*09:57 and HLA-DRB1*09:58 in Chinese individuals.

Compared with HLA-DRB1*09:01:02:05, the alleles HLA-DRB1*09:57 and HLA-DRB1*09:58 each show one nucleotide change, respectively.

[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.

[Analysis of genetic polymorphisms and a novel tri-allelic cloning sequence for the D13S317 locus among an ethnic Han Chinese population].

Objective: To study the genetic polymorphisms of short-tandem repeats (STR) for the D13S317 locus among an ethnic Han Chinese population and verify a novel tri-allelic pattern identified for the locus.

Methods: A total of 378 paternity test cases from Guangdong Forensic Authentication Institute from October 17, 2017 to December 28, 2017 were selected as the study subjects. A GlobalFiler Express kit was used for the STR genotyping.

The novel HLA-B*13:179 variant detected by next generation sequencing in a Chinese individual.

HLA-B*13:179 differs from HLA-B*13:99 by one nucleotide substitution at position 829(A>G) in exon 4.

Characterization of a novel variant allele, HLA-B*56:04:05, identified in a Chinese Han individual.

The novel HLA-B *56:04:05 allele differs from its most closely related allele B*56:04:01:01 in exon 4.

[Establishment of sequence-based typing assay for KIR2DS4 gene and identification of a new allele KIR2DS4*016].

Objective: To establish a reliable sequence-based typing method for KIR2DS4 and study its allele polymorphism in Chinese Han population.

Methods: Using PCR-SSP method to detect the positive or negative of KIR2DS4 gene in 222 random Chinese Han individuals, and then using the method of high fidelity and long-fragment PCR-SBT to amplify, sequence and genotype the exons 4 and 5 of KIR2DS4 positive individuals.

Results: We successfully amplified the fragment with 3.

Establishment of Rapid Detection Methods for rs76971248 Related to Leukemia.

Background: The HLA-E gene is a member of the HLA-I gene family. Its genetic polymorphism is regarded as associated with numerous diseases. Establishing a rapid and accurate detection method of disease-related SNP sites in HLA-E is particularly important.

A substitution in exon 2 resulted in the novel HLA-A*30:140 variant identified in a Chinese individual.

HLA-A*30:140 differs from HLA-A*30:01:01 by one nucleotide change in exon 2 at position 341 (C > A).

Adaptive Admixture of HLA Class I Allotypes Enhanced Genetically Determined Strength of Natural Killer Cells in East Asians.

Human natural killer (NK) cells are essential for controlling infection, cancer, and fetal development. NK cell functions are modulated by interactions between polymorphic inhibitory killer cell immunoglobulin-like receptors (KIR) and polymorphic HLA-A, -B, and -C ligands expressed on tissue cells. All HLA-C alleles encode a KIR ligand and contribute to reproduction and immunity.

Characterization of the novel variant allele, HLA-B*13:82, identified in a Chinese Han individual.

The novel HLA-B*13:82 allele differs from the closest allele B*13:02:01:01 in exon 3.

The genetic contribution of and to Posner-Schlossman syndrome in southern Chinese.

Background: The polymorphisms of classical and loci have been associated with Posner-Schlossman syndrome (PSS) in the southern Chinese population. However, the associations of non-classical (e.g.

Natural Killer Cells Offer Differential Protection From Leukemia in Chinese Southern Han.

Interactions of human natural killer (NK) cell inhibitory receptors with polymorphic HLA-A, -B and -C molecules educate NK cells for immune surveillance against tumor cells. The haplotype encodes a distinctive set of HLA-specific NK cell inhibiting receptors having strong influence on immunity. We observed higher frequency of homozygosity among 745 healthy Chinese Southern Han than 836 adult patients representing three types of leukemia: ALL (OR = 0.

Characterization of a novel variant allele, HLA-C*08:125, identified in a Chinese Han individual.

The novel HLA-C*08:125 allele differs from the closest allele C*08:02:01:01 in exon 3.

[Polymorphisms of MICA gene and their linkage disequilibrium with HLA-B among ethnic Han Chinese from Shenzhen].

Objective: To study the distribution of MICA alleles among ethnic Han Chinese blood donors from Shenzhen and their linkage disequilibrium with HLA-B gene.

Methods: For 143 randomly selected blood donors, the MICA and HLA-B alleles were determined with a PCR-sequence based typing (SBT) method. Allelic frequency, haplotypic diversity and linkage disequilibrium were analyzed with a Pypop software.

Clinical significance of HLA-E genotype and surface/soluble expression levels between healthy individuals and patients with acute leukemia.

Human leukocyte antigen (HLA)-E is a nonclassical HLA molecule with limited polymorphisms. Genotype frequency and expression of HLA-E were examined here for the first time in acute leukemia patients and healthy controls. The frequency of HLA-E*01:03/*01:03 individuals was significantly higher (p = .

[Study of polymorphisms of HLA class Ⅰ (-A, -B, -C) and class Ⅱ (DRB1, DQA1, DQB1, DPA1, DPB1) genes among ethnic Hans from Southern China].

Objective: To study the genetic polymorphisms of human leukocyte antigen (HLA)- A, B, C, DRB1, DQA1, DQB1, DPA1and DPB1among ethnic Hans from southern China.

Methods: 481 randomly selected individuals were genotyped using a polymerase chain reaction (PCR) sequence-based typing (SBT) method for the above genes. Their allele frequencies were determined by direct counting.

[Association of genetic polymorphisms of KIR-HLA system with chronic myeloid leukemia among ethnic Hans from southern China].

Objective: To explore the association of KIR-HLA gene polymorphism with chronic myeloid leukemia (CML) among ethnic Hans from southern China.

Methods: A total of 172 adult CML patients and 480 unrelated healthy controls were screened for the presence of KIR with sequence-specific primers-PCR (PCR-SSP) and sequence-based typing (SBT) of HLA-A, -B and -C loci. Polymorphisms of the KIR-HLA system were analyzed at 4 levels, and the frequencies of KIR framework genes and KIR profiles, classⅠHLA ligands, matched KIR+HLA pairs and KIR-HLA compound profile were compared between the two groups.

[Genetic polymorphisms of KIR2DS4 gene among ethnic Hans from southern China].

Objective: To study genetic polymorphisms of the KIR2DS4 gene among ethnic Hans from southern China.

Methods: Genomic DNA was isolated from 306 unrelated individuals and amplified with KIR2DS4-specific PCR primers. KIR2DS4-positive samples were genotyped for the entire coding sequence by sequencing-based typing (SBT).

Allelic diversity of KIR3DL1/3DS1 in a southern Chinese population.

The inhibitory KIR3DL1 and the activating KIR3DS1 segregate as alleles of the same locus. KIR3DL1 is highly diversified at the allele level and KIR3DL1 alleles exhibit varied levels of expression and ligand binding affinity resulting in varied degrees of NK cell inhibition. Previous studies have shown that the KIR3DL1/3DS1 polymorphism associated with viral infection, cancer and transplantation.

Human Leukocyte Antigens-B and -C Loci Associated with Posner-Schlossman Syndrome in a Southern Chinese Population.

The etiology of Posner-Schlossman syndrome (PSS) remains unknown. The association of human leukocyte antigens (HLA) allelic diversity with PSS has been poorly investigated. To evaluate the association of allelic polymorphisms of class I HLA-A, -B and -C and class II HLA-DRB1 and -DQB1 with PSS, 100 unrelated patients with PSS and 128 age- and ethnically matched control subjects were recruited from a southern Chinese Han population.