Abstract
Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DA distances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future.
Highlights
It is reasonable to hypothesize that the polymorphism of the killer cell immunoglobulin-like receptors (KIRs) in combination with human leukocyte antigen (HLA) genes might affect predisposition to autoimmune disease
The data showed that 4 framework KIR genes including KIR2DL4, KIR3DL2, KIR3DL3 and KIR3DP1 were observed in all individuals
We detected polymorphisms of KIR genes from Han population living in eastern coastal area of China (Jiangsu province) using PCR-SSP method
Summary
It is reasonable to hypothesize that the polymorphism of the KIRs in combination with HLA genes might affect predisposition to autoimmune disease. The A haplotype contains at least six encoding inhibitory receptors (KIR3DL3, 2DL3, 2DL1, 2DL4, 3DL1 and 3DL2), one pseudogene (KIR3DP1) and one activating receptor gene (KIR2DS4)[13]. The B group is divided into 4 subgroups: C4T4, C4Tx, CxT4, and CxTx. Seven KIRs (KIR2DL1, 2DL2, 2DL3, 2DL5, 3DL1, 3DL2 and 3DL3) have inhibitory functions while five KIRs (KIR2DS1, 2DS2, 2DS3, 2DS5 and 3DS1) exhibit active functions. We successfully identified the genotype of 17 KIR genes including KIR2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 3DL1, 3DL2, 3DL3, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 3DS1 (in the full-length form), 1D (in the deleted form), and two pseudogenes 3DP1 (putative protein product) and 2DP1(no protein expression) by using PCR-SSP method and analyzed the distributions of 17 KIR genes in the Eastern Han population of China. We conducted a comprehensive genetic analysis of 62 populations with existing KIR genotyping files using a variety of different analysis strategies, including Heatmap, Neighbor-Joining tree, Multidimensional Scaling plot and so on
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