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Objective: To report on a novel KIR3DL3 allele identified in a southern Han Chinese individual., Methods: Peripheral blood sample was collected from a voluntary blood donor with inconclusive result by KIR3DL3 sequence-based typing (SBT). Total mRNA was extracted and subjected to reverse transcription to obtain KIR3DL3 cDNA, which was then amplified by PCR with a pair of KIR3DL3-specific primers. The product was subjected to cDNA cloning and sequencing., Results: cDNA cloning and sequencing have identified a wide-type KIR3DL3*00802 allele and a novel KIR3DL3*064 allele. The latter differed from KIR3DL3*00601 by a missense variant at codon 374[c.1184 C>T (p.Thr374Ile)] in exon 9. The novel KIR3DL3 allele has been officially assigned by the KIR subcommittee of World Health Organization Nomenclature Committee for factors of HLA system., Conclusion: cDNA cloning and sequencing may be used to distinguish inconclusive results in KIR3DL3 SBT in order to identify novel KIR alleles.

The novel KIR2DL4*037 allele differs from the closest allele KIR2DL4*00501 by a single missense mutation., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The novel KIR2DL4*00603 allele differs from the closest allele KIR2DL4*00602 by a silent mutation., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

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. In contrast, only some HLA-A and -B alleles encode KIR ligands and they focus on immunity. By high-resolution analysis of KIR and HLA-A , -B , and -C genes, we show that the Chinese Southern Han (CHS) are significantly enriched for interactions between inhibitory KIR and HLA-A and -B. This enrichment has had substantial input through population admixture with neighboring populations, who contributed HLA class I haplotypes expressing the KIR ligands B*46:01 and B*58:01, which subsequently rose to high frequency by natural selection. Consequently, over 80% of Southern Han HLA haplotypes encode more than one KIR ligand. Complementing the high number of KIR ligands, the CHS KIR locus combines a high frequency of genes expressing potent inhibitory KIR, with a low frequency of those expressing activating KIR. The Southern Han centromeric KIR region encodes strong, conserved, inhibitory HLA-C-specific receptors, and the telomeric region provides a high number and diversity of inhibitory HLA-A and -B-specific receptors. In all these characteristics, the CHS represent other East Asians, whose NK cell repertoires are thus enhanced in quantity, diversity, and effector strength, likely augmenting resistance to endemic viral infections. [ABSTRACT FROM AUTHOR]

The novel KIR3DL3*02602 allele differs from the closest allele KIR3DL3*02601 by a single silent mutation. [ABSTRACT FROM AUTHOR]

The novel KIR3DL3*063 allele differs from the closest allele KIR3DL3*04802 by a single missense mutation. [ABSTRACT FROM AUTHOR]