山东地区汉族人群KIR基因多态性分析  

Polymorphisms of killer cell immunoglobulin-like receptor gene in Shandong Han Population

作　　者：邵松[1] 刘义庆[1] 许丽[2] 崔相法[1] 陈国建[1] 王子娥[1] 卢志明[1] 赵跃然[1] 

机构地区：[1]山东大学附属省立医院,山东济南250021 [2]山东大学第二医院

出　　处：《山东医药》2008年第40期12-14,共3页Shandong Medical Journal

基　　金：国家自然科学基金资助项目(30371304);山东省自然科学基金资助项目(yz2006c72)。

摘　　要：目的分析山东地区汉族人群杀伤细胞免疫球蛋白样受体(KIR)基因多态性及基因型和单倍型多态性,为进一步研究KIRs与疾病的关系奠定基础。方法采用序列特异性引物PCR法(PCR-SSP)对412例山东地区无血缘关系的汉族健康志愿者进行KIR基因频率检测及基因型和单倍型分析。结果①KIR基因频率:可检测到目前已知的18种KIR基因;所有个体均检测到3个框架基因(2DL43、DL2、3DL3)以及KIRZ,其基因频率均为100%。3DP12、DL3、2DL1、3DL1和2DS4基因较为常见,频率分别为99.03%、98.79%、98.79%、98.79%、96.84%;而2DL2、2DS23、DP1v基因频率较低。②KIR基因型频率:共检出基因型28种,以AJ(2,2)、AF(1,2)型最常见,其次为AH(5,2)、G(4,5)、AI(1,5);另外有11种基因型在白人中尚未见报道。③KIR基因单倍型频率:共检出单倍型16种,最常见的是单倍型2,频率为46.36%;其次为单倍型1,频率为25.61%。结论山东地区汉族人群有其独特的KIRs基因频率、基因型频率和单倍型频率分布;本研究可为进一步研究KIRs与疾病的相关性提供依据。Objective To detect the diversity of killer Ig-like receptor（KIR） gene content and the combination of genotypes and haplotypes in Chinese Hart population in Shandong area. Method DNA samples from 412 randomly unrelated healthy individuals in Shandong Han population were genotyped with PCR-SSP method. Results （1） Frequencies of KIR genes：All of 18 known KIRs genes,such as 2DL1-5,2DS1-5,3DL1-3,3DS1 ,KIR 1D and the pseudogenes X,Xv and Z（KIR2DP1） were observed in the population,the most common genes were 2DL4,3DL2,3DL3 and Z（KIR2DP1 ）, frequencies of which were 100% ;the following were 3DP1,2DL3,2DL1,3DL1 ,and 2DS4, their frequencies were 99.03% ,98.79% ,98.79% ,98.79% ,96.84% respectively, while the frequencies of 2DL2,2DS2,3DP1 v were relatively lower. （2）Frequencies of KIR genotypes：28 kinds of genotypes were observed;the most frequent ones were A J（2,2）, A F（ 1,2）. Eleven new genotypes AZ1 - AZ11 were identified which had not been observed in Caucasians so far. （3）Frequencies of KIR gene haplotypes： 16 haplotypes were detected, the most frequent one was type 2 with the frequency of 46.36 %, the next was type 1 with the frequency of 25.61%. Conclusion There are distinctive frequencies of KIR gene content, genotype as well as haplotype in Chinese Han population in Shandong area;This study might provide valuable evidence for the research of the relation between KIRs and certain disease.

关 键 词：杀伤细胞免疫球蛋白样受体 基因型 单倍型 基因多态性 

分 类 号：R392.2[医药卫生—免疫学]