Polymorphism Of Killer Cell Immunoglobulin-like Receptors Gene In Sichuan Han Population, China

ObjectiveTo analyze the Polymorphism of killer cell immunoglobulin-like receptors gene in Sichuan Han population, and provide the basic data for transplantation immunity and disease association study.Methods135 samples were randomly selected from CMDP Sichuan branch, and genotyped by PCR-SSP on 17 locies, including 2DL1-5,2DS1-3,2DS4*001/002,2DS4*003, 2DS5,3DL1-3,3DS1,2DP1 and 3DP1. Based on those standards established by Hsu, the genotypes and haplotypes of all samples were designated.ResultsAmong the Sichuan Han population, framework genes 3DL3,3DL2,2DL4 and 3DP1 were found expressed in all samples, genes 2DL3,2DP1,2DL1,3DL1,2DS4*001/002 were with high frequencies and genes 2DS2,2DL2,2DL5,3DS1,2DS3,2DS5,2DS1,2DS4*003 were with low frequencies. There are no significant differences between the Sichuan Han population and other southern Han populations on all locuses, but some on part of all locuses compare with Caucasians.A total 31 kinds of KIR genotype were identified, among which the genotype AF(1,2) and AJ(2,2) were most common, with its frequencies of 18.52% and 20.74%. Besides,14 kinds of genotype were not able to be identified via those standards established by Hsu,7 of which used to be reported in Han populations from other areas. The other 7 were reported in other populations from all over the world. Among 31 kinds of genotypes,9 different combinations of inhibitory KIR genes and 15 different combinations of activate KIR genes were found. In either combinations of iKIR genes or aKIR genes, samples carry all genes were also found.A total 12 kinds of KIR haplotypes were identified, among which the haplotype 2 was most common, with frequency of 43.4%, then haplotype 1, with its frequency of 25.2%. The ratio of haplotype A:B is 2.18:1. Further more, 6 KIR genotypes were not able to designate their haplotype combinations.Compare the frequencies of 3DS1 and HLA-Bw4 with other populations, we find that Sichuan Han population shares the same feature with other populations on the relationship between the frequence of 3DS1 and HLA-Bw4.ConclusionSichuan Han population shares the same feature with other southern Han populations on KIR gene Polymorphism, but also, possesses its unique frequencies of KIR gene, genotypes and haplotypes.