目的分析中国北方汉族人群杀伤细胞免疫球蛋白样受体(killercellimmunoglobulin-likereceptors,KIR)及其配体人类白细胞抗原(humanleucocyteantigen,HLA)-I类分子的基因多态性特征。方法研究对象为184名北方汉族儿童(男91名,女93名)。采用聚合酶链反应一序列特异性引物方法分别检测KIR及HLA—ABC的基因多态性。结果16个KIR基因在本研究中均能检测到;4个框架基因的基因频率均为100%;其他K豫的基因频率在16.3%~99.5%之间。共检测出24种基因型(包括1种新的基因型,其基因组成包括框架基因及KIR2DL3、3DL1、2DPI)。在HLA—A、B、C基因座位上,分别检测出低分辨水平等位基因12种、27种、11种。结论获得了中国北方汉族人群的K豫及其配体HLA—ABC基因多态性特征;报告了9对KIR/HLA配对组合在汉族人群中的频率。
Objective To investigate the distribution of killer cell immunoglobulin-like receptors (KIR) and their specific ligands human leukocyte antigen- I (HLA- I ) gene in northern China. Methods One hundred and eighty-four unrelated northern Chinese Han individuals were recruited. Genotypes of the KIR and HLA-ABC genes were studied by sequence-specific primer polymerase chain reaction (SSP-PCR). Results Sixteen KIR genes were detected among the 184 unrelated individuals. In all individuals, the four framework genes were present. The frequencies for those carrying the remaining 12 KIR genes have ranged from 16.3% to 99. 5%. Twenty-four KIR genotypes were identified, for which half were detected in a single individual. A new genotype comprised of KIR2DL3, 3DL1, 2DP1 and the framework genes was detected in one subject. Respectively, 12, 27 and 11 specificities of HLA alleles were identified on the HLA-A, B, C loci. Conclusion The distribution of polymorphisms of KIR and its ligand HLA-ABC genes among northern Chinese Han population have been ascertained. The frequencies of 9 KIR/HLA combinations in the above population have been determined for the first time.