中国南京地区汉族献血者HLA-Cw及其KIR2D基因型频率分析

Frequency of HLA-Cw and Its Corresponding Killer Cell Immunoglobulinlike Receptors( KIR) among Blood Donors in Chinese Nanjing Han Ethnic Group

目的:对中国南京地区汉族献血人群HLA-Cw与其配体KIR2D基因型频率分别进行调查,并分析两者的配对和识别方式,为今后研究其在疾病发展中的作用提供依据。方法:应用PCR-SSP技术对江苏省血液中心241名汉族合格无偿献血者进行HLA-Cw和KIR2D基因分型,根据HLA-Cw与KIR2D基因的识别方式,分析个体HLACw与相应激活型或抑制型KIR2D受体的识别情况。结果:南京地区献血人群中HLA-C1的表达频率为76.35%,远高于HLA-C2的表达频率(23.65%),C1/C2等位基因的表达符合Hardy-Weinberg平衡;与HLA-Cw配对的5个KIR2D(L1、L2、L3、S1和S2)的表达频率分别为:97.93%、29.05%、98.34%、29.05%和21.16%;HLA-C1/C1和2DL1+/2DL2-/2DL3+/2DS1-/2DS2-的配对组合最多(75/214)。结论:本研究初步提供了本地区献血人群HLACw和5个KIR2D受体基因多态性数据。通过配对分析发现,抑制型HLA-Cw-KIR配对表达高于活化型配对,提示HLA-Cw第80位密码子、KIR2D受体基因的组合层面上存在着以抑制型信号通路为优势的共同特点。

Objective: To investigate the frequency of HLA-Cw and its KIR2 D genotypes in Han blood donor population in Chinese Nanjing area and to analyze the match and distinguish modes of them so as to provide the basis for further studying their roles in incidence and development of disease. Methods: The PCR-SSP was used to genotyping of HLA-Cw and KIR2 D for 241 Han blood donors in Jiangsu Provincial blood center; according to distingush modes of HLA-Cw and KIR2 D genes,the distingushed results of HLA-Cw and corresponding activating or inhibitory KIR2 D receptors of individuals were analyzed. Results: The frequency of HLA-C1 expression in donor population of Nanjing area was 76. 35% which was much higher than that of HLA-C2 expression( 23. 65%); the expression C1 /C2 alleles was accorded with Handy-weinberg balance. The expression frequencies of 5 KIR2Ds( L1,L2,L3,S1 and S2) matched to HLA-Cw were 97. 93%,29. 05%,98. 34%,29. 05% and 21. 16%,respectively. The match of HLA-C1 /C2 to2DL1 + /2DL2- /2DL3 + /2DS1- /2DS2- was predominated( 75 /241). Couclusion: The polymorphism data of HLA-Cw and 5 KIR2 Ds from blood donors in Chinese Nanjing area has been provided in this study. The match analysis found that the expression of inhibitory HLA-Cw-KIR is higher than that of activated HLA-Cw-KIR,suggesting that the HLA-Cw /KIR2 D combination is characterized by preponderance of inhibitory signal pathway.