中国北方汉族人群杀伤细胞免疫球蛋白样受体及其配体HLA-I基因的多态性研究  

Polymorphisms of killer cell immunoglobulin-like receptor and its ligand HLA I gene among northern Chinese Han population

作　　者：吴凌燕[1] 谢正德[1] 刘亚丽[1] 艾军红[1] 刘春艳[1] 申昆玲[1] 

机构地区：[1]首都医科大学附属北京儿童医院、北京市儿科研究所、儿科学国家重点学科、北京市顺义区妇幼保健院教育部儿科重大疾病研究重点实验室,北京100045

出　　处：《中华医学遗传学杂志》2015年第5期651-656,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81171568）

摘　　要：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.

关 键 词：杀伤细胞免疫球蛋白样受体 人类白细胞抗原-I类分子 基因多态性 基因型 中国北方汉族人群 

分 类 号：R392.13[医药卫生—免疫学]