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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基因多态性

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

作者信息

Wu Lingyan, Xie Zhengde, Liu Yali, Ai Junhong, Liu Chunyan, Shen Kunling

机构信息

Key Laboratory of Major Diseases in Children of Ministry of Education, Shunyi Maternal and Child Health Hospital, Beijing Pediatric Research Institute, National Key Discipline of Pediatrics, Beijing Children' Hospital, Capital Medical University, Beijing 100045, P.R. China. Email:

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):651-6. doi: 10.3760/cma.j.issn.1003-9406.2015.05.009.

DOI:10.3760/cma.j.issn.1003-9406.2015.05.009
PMID:26418984
Abstract

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.

摘要

目的 研究杀伤细胞免疫球蛋白样受体(KIR)及其特异性配体人类白细胞抗原-I(HLA-I)基因在中国北方人群中的分布情况。方法 招募184名中国北方汉族无关个体。采用序列特异性引物聚合酶链反应(SSP-PCR)研究KIR和HLA-ABC基因的基因型。结果 在184名无关个体中检测到16个KIR基因。所有个体均存在4个框架基因。携带其余12个KIR基因的频率在16.3%至99.5%之间。共鉴定出24种KIR基因型,其中半数仅在单个个体中被检测到。在一名个体中检测到一种由KIR2DL3、3DL1、2DP1和框架基因组成的新基因型。在HLA-A、B、C位点上分别鉴定出12种、27种和11种HLA等位基因特异性。结论 已明确中国北方汉族人群中KIR及其配体HLA-ABC基因多态性的分布情况。首次确定了上述人群中9种KIR/HLA组合的频率。

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