H.‐Y. Zou

Full length sequence of a novel HLA-B*3818 allele differs from HLA-B*380201 allele in exon 4 and intron 5.

The full length sequence of HLA-B*3818 differs from HLA-B*380201 at nt 660 in exon 4 (C-->A) and genomic position 2133 in intron 5 (A-->C).

Two novel HLA-A alleles, A*29:02:01:02 and A*68:01:01:02, were identified by genomic full-length cloning and sequencing.

Two novel HLA-A alleles differing from their closest related alleles by nucleotide exchanges in introns, A*29:02:01:02 and A*68:01:01:02, were identified.

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.

Identification of a novel HLA-A*02 allele, HLA-A*02:432, in a Chinese individual.

A*02:432 differs from A*02:07:01 by one nucleotide change at nucleotide 572 in exon 3 from G to C.A*02:432 differs from A*02:07:01 by one nucleotide change at nucleotide 572 in exon 3 from G to C.

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 new HLA-C allele in a Chinese family by sequence-based typing: HLA-Cw*0348

The novel human leukocyte antigen (HLA)-Cw*0348 allele was identified by sequence-based typing in a Chinese family. This allele shows that the sequences of exons 1-3 of HLA-Cw*0348 are identical to those of HLA-Cw*030401 except for a nucleotide substitution that changes CCG to CTG at codon 57, resulting in an amino acid change from Pro to Leu in the protein, and this is a unique nucleotide change among the HLA-C alleles, suggesting a point mutation mechanism. The extended haplotype carrying the new allele was deduced from the family group typing and defined as A*110101, B*1301, Cw*0348, DRB1*0405, and DQB1*0402.

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.

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.

A novel HLA-DRB1 allele, DRB1*112802, was identified in a Chinese individual

We report here a novel human leukocyte antigen-DRB1 allele, DRB1*112802, which was identified from a Chinese individual during sequence-based typing. The new allele is identical to DRB1*112801 except for one nucleotide change at nucleotide 189 (A --> G ), codon 34 Q (CAA) --> Q (CAG), no coding change.