浙江汉族人群杀伤细胞免疫球蛋白样受体基因多态性研究

本研究的目的是分析浙江汉族人群杀伤细胞免疫球蛋白样受体（KIR）基因的多态性及基因型.采用序列特异性引物PCR法（PCR-SSP）进行KIR基因低分辨率检测和基因型分析.结果表明：①在浙江汉族人群中共检出目前已知的17个KIR基因.2DL4、3DL2和3DL3基因存在于所有个体,其基因频率为1.00.2DL1、2DL3、2DP1、3DP1＊003、3DL1、2DS4＊001/002基因较为常见,频率分别为0.902、0.902、0.902、0.902、0.7598、0.5615;而2DL2、2DL5A、2DL5B、2DS1、2DS2、2DS3、2DS4＊003、2DS5、3DS1和3DP1＊001/002基因频率较低.②浙江汉族人群中以A型单倍型为主,频率高达74.7%.在检测样本中共明确检出12种单倍型,最常见的是单倍型2,频率为53.0%.③共检出26种基因型,最常见为AJ（2,2）、AF（1,2）型,其次为AH（2,5）、NN2（2,6）、AI（1,5）和AG（1,1）.其中有15种基因型在白人中尚未见报道,4种基因型无法根据相关文献标准分析出单倍型.结论：浙江汉族人群有其独特的KIR基因频率和基因型频率分布.

Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population

To analyze killer immunoglobulin (Ig)-like receptor (KIR) gene content and allelic polymorphism in Zhejiang Han population, samples were genotyped by polymerase chain reaction sequence-specific primers(PCR-SSP). The results demonstrated that all 17 KIR genes could be observed in the population. All individuals contained 2DL4, 3DL2 and 3DL3 genes. The frequencies of these genes was 1.00. 2DL1, 2DL3, 2DP1, 3DP1*003, 3DL1, 2DS4*001/002 loci were more common, their frequencies were 0.902, 0.902, 0.902, 0.902,0.7598, 0.5615 respectively, while the frequencies of 2DL2, 2DL5A, 2DL5B, 2DS1, 2DS2, 2DS3, 2DS4*003, 2DS5, 3DS1 and 3DP1*001/002 were relatively lower. The A KIR haplotype was the most prevalent (74.7%) in Zhejiang Han population and there were 12 different KIR haplotypes in total, the most common was 2(53.0%). Twenty six different genotypes have been found in the population, AJ(2,2) and AF(1,2) showed higher frequencies, followed by AH(2,5), NN2(2,6),AI(1,5) and AG(1,1). Fifteen of these genotypes have not been found in Caucasians so far and four new KIR profiles could not be assigned to the haplotypes according to standard assign method. In conclusion, there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.