吉林省汉族人群KIR基因多态性分析

Analysis on polymorphism of killer cell immunoglobulin-like receptor genes in Han population of Jilin province

目的:探讨吉林省汉族人群杀伤细胞免疫球蛋白样受体(KIR)基因表达的多态性,为研究KIR基因和疾病的相关性奠定理论基础。方法:98名吉林省汉族正常人,提取基因组DNA样本,采用序列特异性引物聚合酶链式反应方法对所有收集的样本进行KIR基因分型。KIR基因位点检测KIR2DL1～KIR2DL5、KIR2DS1～KIR2DS5、KIR3DL1～KIR3DL3、KIR3DS1和KIR2DP1。KIR基因单倍型分析根据Hsu等制定的KIR基因单倍型分型综合标准分型。结果:共检测到15种KIR基因,KIR2DL4、KIR3DL2、KIR3DL3存在于所有个体,其基因频率均为1。2DL1、2DL3、2DL4、3DL1、3DL2、3DL3、2DP1和2DS4*001基因较常见。参照Hsu等的方法,在吉林省汉族中共得到单倍型15种,最常见的是单倍型1和2,分别占14.8%和53.1%,单倍型1和2属于A单倍型。吉林省汉族人群的A单倍型频数为67.9%。结论:吉林省汉族人群KIR分布不同于白种人,与中国其他地区的汉族人群分布相似,但是仍具有其独特的单倍型频数和基因型频数分布。

Objective To investigate the polymorphism of killer cell immunoglobulin-like receptor KIR gene expression in Han population of Jilin province and lay a theoretical basis for the study of the correlation between KIR genes and disease.Methods The DNA genome samples were extracted from the 98 health people who were received physical examination in Han population of Jilin province separately.Then the genome samples were genotyped using low resolution polymerase chain reaction with sequence-specific primers（PCR-SSP） typing method.The gene loci of KIR2DL1—KIR2DL5,KIR2DS1—KIR2DS5,KIR3DL1—KIR3DL3,KIR3DS1 and KIR2DP1 were examined,the genotypes and haplotypes were assigned according to standard model of Hsu.Results 15 kinds of KIR genes were observed in all samples,among them 3 kinds of framework genes,ie KIR2DL4,KIR3DL2,KIR3DL3 were all expressed in all individuals.2DL1,2DL3,2DL4,3DL1,3DL2,3DL3,2DP1,2DS4＊001 genes were relatively common.A total of 15 different kinds of KIR haplotypes were identified.The haplotype 2 was predominant with a frequency of 53.1%,and the second kind was haplotype 1 with a frequency of 14.8%,both haplotype 1 and 2 all belonged to haplotype A.The frequency of haplotype A was 67.9%.Conclusion The KIR gene distribution in Han population of Jilin province is different from White people,but it has some similarity with the Chinese Han population in other araes,meanwhile,there are distinctive frequencies of KIR gene,haplotype as well as genotype,in Jilin Han population.