X.-F. Li

An analysis of HLA-A, -B, and -DRB1 allele and haplotype frequencies of 21,918 residents living in Liaoning, China.

HLA-A, -B and -DRB1 allele frequencies and their haplotype frequencies in 21,918 Chinese residents living in Liaoning Province, who were registered as volunteer donors of China Marrow Donor Registry, were investigated. They are composed of 93.37% Han Chinese, 5.1% Manchus, 0.57% Mongols, 0.46% Hui persons, 0.29% Koreans and 0.14% Xibe ethnic group. In total eighteen different HLA-A alleles, forty-eight different HLA-B alleles and fourteen different HLA-DRB1 alleles have been identified. Their frequencies are in agreement with the Hardy-Weinberg equilibrium. For Han Chinese in Liaoning, 1,534 different HLA-A-B-DRB1 haplotypes were identified, with a frequency of higher than 0.01%. A*30-B*13-DRB1*07, A*02-B*46-DRB1*09 and A*02-B*13-DRB1*12 are the most frequent haplotypes among Liaoning Han. While Liaoning Han, Liaoning Manchu, Liaoning Mongol, Liaoning Hui and Liaoning Korean share the northern Han characteristic haplotypes, all minority ethnic groups with the exception of Liaoning Manchu have developed their own unique HLA profiles. This dataset characterizes the HLA allele and haplotype frequencies in the Liaoning area and suggests that it is different from those in other parts of China and ethnic groups, which implicates transplant donor searching strategies and studies on population genetics.

Identification of a new human leukocyte antigen A allele, HLA-A*3020

A new human leukocyte antigen (HLA) A allele, HLA-A*3020, was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes and sequencing-based typing. The A*3020 allele has one nucleotide change at position 294 of exon 2 from the closest matching allele A*300101, resulting in an amino acid change from D (GAC) to E (GAA) at codon 98.

A novel HLA-A31 allele, A*31:22, was identified by sequence-based typing

The human leukocyte antigen HLA-A*31:22 allele shows a single nucleotide change at position 245 (A > C) of exon 2 from the closest matching allele HLA-A*31:01:02.

A novel HLA-B*40 allele, HLA-B*40:74, detected in a Chinese individual

The HLA-B*40:74 allele has two nucleotide changes at positions 103 and 106 of exon 2 from the closest matching allele HLA-B*40:01:01.

Identification of a novel allele, HLA-A*24:02:50, by sequence-based typing.

HLA‐A*24:02:50 has one synonymous nucleotide change from HLA‐A*24:02:01:01 at nucleotide 429 (codon 119 aspartic acid).

A novel HLA allele, HLA-B*55:50, was identified by sequence-based typing

HLA-B*55:50 has one nucleotide change from HLA-B*55:02:01 where 169 R is changed to L.

Identification of a novel HLA allele, HLA‐A*11:101, in a platelet donor from China

HLA-A*11:101 has one nucleotide change from HLA-A*11:02:01 where 120 Q is changed to R.

Sequencing of a novel HLA-DRB1*09:01:07 allele in a Chinese individual

The novel DRB1*09:01:07 allele differs from DRB1*09:01:02 by only one nucleotide substitution in exon 2.

The novel HLA‐B allele, HLA‐B*07:110, was identified by sequencing genomic DNA

The human leukocyte antigen-B (HLA-B) gene is the most polymorphic locus of the HLA system, with more than 3000 alleles identified up to July 2013 according to the latest version of IMGT/HLA Database (Release 3.13.0) (1). Here we describe a new HLA-B allele, officially named B*07:110 found in a volunteer of platelet donor registry during routine HLA typing (2). Genomic DNA was isolated from anti-coagulated whole blood with a DNA Extraction Reagent Kit (Tiangen, Beijing, China). DNA concentration was 76 ng/μl and optical density 260/280 was 1.76. The sample was genotyped with microbeads sequence-specific oligonucleotide (SSO) assay based on Luminex platform using LABType® SSO typing kits (One Lambda Inc., Los Angeles, CA) following the manufacturer’s protocol for HLA class I (HLA-A, and -B). But the HLA-B locus hybridization probe reaction patterns did not match any known HLA-B alleles or allelic combinations, repeated typing also showed the same results, so the presence of a new HLA-B allele was suspected. To ascertain the alleles of HLA-B in the sample, DNA sequence-based typing (SBT) was then carried out. HLAB locus was amplified from exon 1 through exon 7 by SBTexcellerator® kit (Genome Diagnostics B.V., Arnhem, the Netherlands) and LongRange PCR kit (Qiagen, Hilden, Germany). Polymerase chain reaction (PCR) products were confirmed by agarose gel electrophoresis, and then treated with ExoI/shrimp alkaline phosphatase (SAP) prior to sequencing to degrade unincorporated primers and to dephosphorylize residual nucleotides. Exons 2–4 were sequenced in both directions using SBTexcellerator® sequence primer (Genome Diagnostics B.V.), Big Dye® Terminator v3.1 Reaction Kit (Applied Biosystems, Torrance, CA) and running on ABI PRISM® 3730xl Genetic Analyzer (Applied Biosystems, Foster City, CA). Sequences were analyzed with sbtengine® software. The obtained heterozygous sequence showed the presence of a novel allele, as the nucleotide (nt) sequence did not match with any known allelic combination. To separate the two alleles and to determine which allele was novel, the sample was amplified with group-specific sequencing primer (GSSP), which was indicated by the analysis software. The sequence result showed that one allele was B*44:03:01 , and the other one was a new HLA-B*07 variant. The novel allele has been officially named HLA-B*07:110 . As shown in Figure 1, B*07:110 has two nts change from B*07:02:01 at nt 226 and nt 228 where A→G (codon 76 ATA→GTG) and resulting in a coding change, 76 I is changed to V. The name B*07:110 has been officially assigned by the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA system. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report, names will be assigned

Detection of the new HLA-B*08:57 allele in a voluntary platelet donor

HLA-B*08:57 has 1 nt change from HLA-B*08:01:01 at nt 108 where G→C (codon 36 ATG→ATC).