S.‐Q. Gao

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.

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.

MICA*066, a novel major histocompatibility complex class I-related chain A allele found by high-resolution HLA-matching tests for hematopoietic stem cell transplantation

MICA*066, a novel MICA allele identified in HLA/MICA typing of a unrelated donor hematopoietic stem cell transplantation donor-patient pair.

A novel MICA allele, MICA*069, identified by sequence-based typing in a Chinese individual.

MICA*069 differs from MICA*010:01 by one nucleotide at position 1118 within exon 6.

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.

Full-length sequence of a novel null allele HLA-A*11:69N identified in a Chinese individual.

We describe here a novel null allele of human leukocyte antigen gene, A*11:69N, which was initially found in a blood donor from China.

Identification of a novel allele HLA‐DRB1*0478 by sequence‐based typing in a Chinese individual

A novel allele HLA-DRB1*0478 is described. This variant has one nucleotide substitution in exon 2. This mutations result in an amino acid substitution at condon 70 (CAG --> CGG) from Gln to Arg.

The full length genomic sequence of a novel HLA‐A*24 allele, HLA‐A*24:353, identified in a patient with hepatitis B infection

HLA‐A*24:353 differs from HLA‐A*24:02:01 by an amino acid exchange glutamine to glutamate at position 316.

Identification of a novel HLA allele, HLA-A* 24:02:90, in a Han Chinese individual

HLA-A*24:02:09 shows one nucleotide difference from HLA-A*24:02:01:01 at position 408 in exon 3 (codon 112 GGG>GGC).

Full-length coding sequences of three major histocompatibility complex class I-related chain A alleles, MICA*019, MICA*027 and MICA*045, identified by sequence-based typing in Chinese individuals

Full-length coding sequences of three major histocompatibility complex class I-related chain A alleles, MICA*019, MICA*027 and MICA*045.