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目的了解四川骨髓库汉族人群杀伤细胞免疫球蛋白样受体(K IR)基因多态性、基因型及其单体型的组成特点。方法随机选取四川骨髓库中川籍汉族捐献者标本135份,采用序列特异性引物扩增(PCR-SSP)对其进行基因检测,并依据Hsu等建立的方法进行基因型和单体型分析。结果在四川骨髓库汉族人群中,3DL3、3DL2、2DL4基因存在于所有个体,常见基因有2DL3、2DP1、2DL1、3DL1、2DS4*001/002,频率较低的有2DS2、2DL2、2DL5、3DS1、2DS3、2DS5、2DS1、2DS4*003基因。四川骨髓库汉族人群中共发现31种基因型,其中以AF(1,2)AJ(2,2)2型最为多见,频率分别为18.52%和20.74%,同时发现12种单体型,以单体型2最为多见,占43.4%。另外,四川骨髓库汉族人群有14种基因型难以通过Hsu的方法判定基因型,其中7种见于中国其他汉族人群的报道,另7种在其他人群中亦有报道。四川骨髓库汉族人群有6种基因型无法根据Hsu的方法判定其单体型组成。结论四川汉族人群KIR基因分布表现出中国汉族人群的特点,同时也具有独特的基因型和单体型分布特征。
Objective To understand the polymorphism of killer cell immunoglobulin-like receptor (K IR) gene, genotype and its haplotype composition in bone marrow of Han nationality in Sichuan province. Methods A total of 135 Han sample donors were selected from the Sichuan bone marrow bank. PCR-SSP was used to detect the gene and genotype and haplotype analysis were performed according to the method established by Hsu et al. Results In Han population of Sichuan bone marrow, 3DL3, 3DL2 and 2DL4 genes were found in all individuals. The common genes were 2DL3, 2DP1, 2DL1, 3DL1 and 2DS4 * 001/002. The lower frequencies were 2DS2, 2DL2, 2DL5, 3DS1, 2DS3, 2DS5, 2DS1, 2DS4 * 003 genes. A total of 31 genotypes were found in the bone marrow Han population of Sichuan Province, of which AF (1, 2) AJ (2, 2) 2 was the most common, with frequencies of 18.52% and 20.74%, respectively. Monomer 2 is the most common, accounting for 43.4%. In addition, 14 genotypes were found to be difficult to determine genotypes by the Hsu method in Han bone marrow patients in Sichuan, of which 7 were found in other Han Chinese populations and 7 in other populations. Six haplotypes can not be determined according to Hsu’s method in Sichuan bone marrow Han population. Conclusion The distribution of KIR gene in Sichuan Han population shows the characteristics of Chinese Han population, as well as unique genotype and haplotype distribution.