论文部分内容阅读
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 frame 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 C1 and C2 allotypes with the 263del in the HLA-C 3 UTR were 26.5% and 17.1%, respectively.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 tbe 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 KIt/HLA interaction in associated diseases and clinical transplantation in southern Chinese.