Distribution of killer cell immunoglobulin-like receptor genes and 2DS4 alleles in the Chinese Han population

Killer cell immunoglobulinlike receptors (KIRs) are a diverse family of receptors on natural killer cells. The KIR2DS4-deleted variant differs from the normal KIR2DS4 sequence by a 22-bp deletion in exon 5, which causes a frame shift, yielding a truncated KIR2DS4 protein with loss of the transmembrane and cytoplasmic domains of the full-length KIR2DS4 protein. A sequence-based testing and TOPO TA cloning system identifying and distinguishing alleles of the KIR2DS4 gene was established. The method was applied to 150 Chinese Han individuals: 75 patients who received T-depleted hematopoietic stem cells transplantation and their unrelated donors, establishing frequencies of 2DS4 allele and KIR gene within the local population. A majority (139) of the 150 samples (92.7%) were positive for KIR2DS4. The ratio of deleted to nondeleted versions of KIR2DS4 was approximately 1:2. Three KIR2DS4 novel alleles were identified. Forty-four percent individuals carried two group A haplotypes. The 17 KIR gene loci were found in 21.3%-100% in the population. Our findings suggest that the Chinese Han population is distinct in KIR gene frequencies and 2DS4 allele frequencies in comparison with some other populations.