D.‐M. Wang

Identification of a new HLA-B*40 allele, HLA-B*4081, in a Chinese individual

A novel human leukocyte antigen (HLA)-B*40 allele, officially named B*4081, was identified during routine high-resolution sequence-based typing in a Chinese potential hematopoietic stem cell transplantation donor. The HLA-B*4081 allele shows one nucleotide difference from B*400101 in exon 2 at nucleotide position 124 where G-->C (codon 18 GGG-->CGG) resulting in a coding change, 18Gly is changed to Arg, this is a unique nucleotide change among the HLA class I alleles, suggesting a point mutation mechanism.

Genetic profile of KIR and HLA in southern Chinese Han population

KIR and their HLA ligands are encoded by two of the most diverse gene families in the human genome. The function of KIR on the NK cell is highly dependent on the normal expression of class I HLA on the target cell. Previous population studies in southern Chinese have been focused on the KIR framework genes and genotypes but little is known about the compound profiles of KIR/HLA. The present study examined 503 unrelated individuals from southern Chinese Han population for the polymorphism of KIR and class I HLA genes. All 16 KIR genes were detected in the study population and the four framework genes KIR3DL2, 3DL3, 3DP1, and 2DL4 were present in all individuals. Thirty unique KIR gene profiles were found reflecting a rather limited number of KIR haplotypes in this population. KIRAA1 was the most common profile observed in 54.7% of the samples. Among the AA1 individuals, 15.6% were homozygous for the deleted KIR2DS4. Haplotype A (74.8%) was more common than haplotype B (25.2%). HLA-C1 was a much more common ligand for 2D KIRs than C2. Bw4-80I, Bw4-80T, and the Bw4-bearing HLA-A alleles were detected at similar frequencies. The matched KIR+HLA pairs 2DL2/3+C1 (98.1%), 3DL1+Bw4 (73.3%), 3DL2+A3/11 (60.0%) were the most common ones whereas 3DS1+Bw4-80I was the least common (9.4%). A total of 193 unique compound profiles of KIR-HLA were identified in 480 informative individuals, 130 of the profiles being detected only once. The study provided a comprehensive analysis of the KIR/HLA profiles in southern Chinese in regards of the presence/absence of KIR genes, HLA ligands, matched KIR+HLA pairs, and KIR/HLA compound profiles. The results could help to better understand the role played by KIR/HLA interaction in associated diseases and clinical transplantation in southern Chinese.

Characterization of a novel variant allele, HLA-C*07:01:19, identified in a Chinese Han individual

The novel HLA-C*07:01:19 allele differs from the closest allele C*07:01:01 by a single nucleotide change at coding sequence nucleotide 738 G>A (codon 222 GAG>GAA) in exon 4.

A novel HLA-Cw*08 allele, Cw*0822, identified by genomic full-length cloning and sequencing.

A novel human leukocyte antigen-Cw*04 allele, Cw*04010103, was identified by genomic full length cloning and sequencing from a male Chinese donor. It differs from the closest related allele Cw*04010101 by one nucleotide exchange at nt 1111 (G>A) in intron 3.

Characterization and sequence analysis of the novel HLA‐Cw*040105 allele in a Chinese Uygur individual

A novel human leukocyte antigen (HLA) allele, HLA-Cw*040105, was identified in a Chinese Uygur individual. It differs from the closest allele Cw*04010101 by four nucleotides at position nt 60 (C>T) in exon 1, genomic nt 477 (A>T) in intron 2, nt 835(T>C), and nt 850 (C>T) in exon 3.

Identification of a novel HLA-Cw*08 variant allele, Cw*0821.

The novel human leukocyte antigen-Cw*0821 allele differs from the closest allele Cw*080101 by single nucleotide change at genomic DNA nucleotide 419 A>G (codon73 ACT>GCT) in exon 2, which results in an amino acid change Thr73Ala.

Characterization of a novel B(A) allele with BBBA type at the ABO blood group

AbstractThe ABO blood group is one of the main blood group systems, and it plays an important role in transfusion medicine and transplantation. To date, most of the many ABO subgroups with a weak expression of the A or B antigen on red blood cells have been elucidated to have specific molecular genetic background with respect to the ABO gene. The ABO*B(A) allele or CisAB allele is a type of dual ABO allele which can encode glycosyltransferases responsible for the conversion of H substance to both A and B antigen. We report here our characterization of a novel B(A) allele which differs from those reported previously.

Identification of a novel HLA‐C*04 allele, HLA‐C*04:162

HLA-C*04:162 differs from the closely matching allele C*04:01:01:01 by one nucleotide substitution in exon 4 at position 883 A/G.

Description of two novel alleles HLA-Cw*0766 and Cw*0767 identified in a Chinese Han individual by sequence-based typing

We report two novel HLA-C alleles, Cw*0766, and Cw*0767 identified in a Chinese voluntary stem cell donor. This sample was initially found by direct PCR-SBT with an inconclusive result. To clarify this unusual SBT result, the PCR product of HLA-C gene covering from exon 1-4 was subjected to cloning and haplotype sequencing and family study of HLA inheritance consisting of six members were confirmed. Novel Cw*0766 allele differs from the closest allele Cw*07020101 by single nucleotide change at genomic DNA nt 1651 C>A (codon 206 CTG>ATG) in exon 4, which results in an amino acid change Leu206Met. Another novel allele Cw*0767 differs from the closest allele Cw*07020103 by single nucleotide change at genomic DNA nt 930 A>T (codon 161 GAG>GTG) in exon 3, which results in an amino acid change Glu161Val. Family study demonstrated that the novel Cw*0766 allele segregating on an A*2402 B*4001 Cw*0766 DRB1*1202 haplotype was inherited from the mother of the propositus, whereas the novel Cw*0767 allele on haplotype A*1101 B*0702 Cw*0767 DRB1*0101 was inherited from the father.

A novel HLA-B*37 allele, B*370105, was identified in a Chinese Han individual

We report here the sequence of a novel human leukocyte antigen B*37 allele, B*370105, which is identical to B*370101 except for a single nucleotide substitution in exon 3 at nucleotide 558 where C>A, codon 162 GGC>GGA, no coding change.