Genetic polymorphism at the KIR gene locus: determination of gene, genotype, and haplotype frequencies in the Xinjiang Han population

The aim of this study was to explore the genetic polymorphism, genotype, and haplotype characteristics of the KIR locus in the Xinjiang Han population in order to establish a foundation for future analysis of the relationship between KIR genes and disease. KIR genes were detected by sequence-specific primer-polymerase chain reaction in 184 randomly selected, healthy individuals from the Han population in Xinjiang, China. Standard genotype and haplotype analyses were conducted using Hsu's standards classified for analysis. Sixteen KIR genes were detected: 3DL3, 2DL4, 3DL2, and 3DL2 (100%); 2DL1 and 2DP1 (99.46%); 2DL3 (98.91%); and so on. The 2DS2 gene frequency was the lowest at 21.74%. Twenty-one genotypes were detected: AJ (2, 2) was relatively common (42.39%), followed by AH (5, 2), AE (2, 8) and H (2, 4), with frequencies of 17.39, 11.96, and 8.15%, respectively. In addition, six novel genotypes were identified in 11 Han individuals as well as in other populations in China, which could not be classified for analysis. These results indicated that the Xinjiang Han population shares KIR gene, genotype, and haplotype frequency distributions with the Chinese Han population, but also has unique genotypes and haplotypes.