四川骨髓库汉族人群KIR及其HLA配体的相互关系研究  

Relationship between KIR and HLA ligands in Han population of Sichuan Marrow Donor Program

作　　者：詹小亭[1] 王珏[1] 王槊[1] 夏玲[1] 纪欣[1] 杨刘[1] 陈雪黎[1] 陈强[1,2] 

机构地区：[1]北京协和医学院 中国医学科学院输血研究所,四川成都610052 [2]四川省脐带血造血干细胞库

出　　处：《中国输血杂志》2012年第4期327-332,共6页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金青年科学基金项目(81001341)

摘　　要：目的了解杀伤细胞免疫球蛋白样受体(KIR)及其HLA配体在四川骨髓库汉族人群中的基因频率分布和配对情况,探讨KIR和HLA的相互关系。方法随机选择四川骨髓库汉族街头无关捐献者标本286(人)份,采用聚合酶链式反应-序列特异性引物扩增(PCR-SSP)做KIR基因检测;采用聚合酶链式反应-直接测序分型法(PCR-SBT)测定HLA-A、B、C等位基因。结果所检测个体均具有结构基因3DL2、3DL3、2DL4和3DP1;共发现29种KIR基因型,ID为1和2的基因型最多见,频率分别为47.55%(136/286)和14.69%(42/286)。HLA-C1和HLA-C2的频率分别为85.15%(487/572)和14.85%(85/572);携带Bw4表位的HLA-A、-B的频率分别是20.78%(119/572)、31.99%(183/572)。所有个体均含有抑制性KIR/HLA-C配受体对,含有1、2和3对配受体对的频率分别是77.27%(211/286)、15.04%(43/286)和7.69%(22/286)。在KIR/HLA-Bw4配受体对中,仅含有3DL1+HLA-Bw4的频率为44.76%(128/286),仅含有3DS1+HLA-Bw4的频率为2.80%(8/286),同时含有3DL1+HLA-Bw4和3DS1+HLA-Bw4的配受体对的频率为25.17%(72/286),另外有27.27%(78/286)的个体无KIR/HLA-Bw4配受体对。结论四川骨髓库汉族人群KIR基因及其KIR/HLA配受体对的分布具有自身特点,抑制性KIR/HLA配受体对占优势。Objective To analyze the gene frequency of killer cell immunoglobulin-like receptors （KIR） and the KIR/ HLA combinations in Han population of Sichuan Marrow Donor Program, and to study the relationships between KIR and HLA. Methods 286 unrelated individuals were randomly selected from China Marrow Donor Program （CMDP） Sichuan branch. 16 loci of KIR were genotyped by PCR-SSP,HLA-A, HLA-B and HLA-C loci genotyped by PCR-SBT. Results Among the Sichuan Han population, the frame loci 3DL2,3DL3,2DL4, and 3DP1 were found in all individuals; a total of 29 kinds of KIR genotype were identified, of which genotypes ID1 and ID2 were the most common, with frequencies of 47.55 % （136/286） and 14.69% （42/286） ,respectively. The frequencies of HLA-C1 and HLA-C2 were 85.15% （487/572） and 14. 85% （85/572） ,the frequencies of HLA-A Bw4 and HLA-B Bw4 were 20.78% （119/572） and 31.99% （ 183/572）, respectively. All individuals displayed at least one inhibitory KIR/HLA-C pair, the frequency of one KIR/HLA-C pair was the highest [77.27% （211/286） ] ,the two pairs was secondary[ 15.04% （43/286） ] ,followed by three pairs[7.69% （22/ 286） ]. Among the KIR/HLA-Bw4 pairs,3DL1 ＋ HLA-Bw4 showed the highest hequency [44. 76% （128/286） ] and 3DS1 ＋ HLA-Bw4 showed lowest frequency [2. 80% （8/286） ] ,the frequency of both 3DL1 ＋ HLA-Bw4 and 3DS1 ＋ HLA-Bw4 was 25. 17% （72/286）. 27.27% （78/286） of individuals in this population had no KIR/HLA-Bw4 pair. Conclusion Han population of Sichuan Marrow Donor Program possesses its unique feature in the distribution of KIR gene and the main KIR/ HLA pairs,inhibitory KIR/HLA pairs are predominant receptor/ligand pairs.

关 键 词：杀伤细胞免疫球蛋白样受体 人类白细胞抗原 KIR/HLA配受体对 PCR—SSP PCR-SBT 四川汉族 骨髓库 

分 类 号：R446.62[医药卫生—诊断学] R457.11[医药卫生—临床医学]