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目的 分析上海地区汉族人群杀伤细胞免疫球蛋白样受体 (killer Ig-like receptors,KIR)基因多态性及单倍型 ,为进一步研究不同人群 KIRs与某些疾病的相关性提供线索。方法 采用序列特异性引物 PCR法对 87名无关汉族健康志愿者进行 KIR基因低分辨率检测和单倍型分析。结果 (1)共检出Xv、KIR1D在内的 18个 KIRs基因。 3 DL 3、2 DL 4、3 DL 2和 3 DL 1存在于所有个体 ;较常见为 2 DL 3、Z、2 DL 1、X;其次为 2 DS4、1D、2 DL 5、2 DS1、3 DS1、2 DS5;2 DS2、2 DL 2、2 DS3、Xv频率较低。 (2 )共检出 13种单倍型 ,最常见的是单倍型 2。 (3 )共检出 18种基因型 ,以 AJ(2 ,2 )、AF(1,2 )型最常见 ,其次为 AH(5,2 )、AI(1,5)和 AG(1,1)。另外有 5种基因型 FZ1(2 ,9或 6,16)、FZ2 (1,16或 2 ,15)、FZ3 (6,17)、FZ4(4,13 )和FZ5(2 ,6) ,目前在白人中尚未发现。结论 上海地区汉族人群有其独特的 KIRs基因频率、单倍型频率和基因型频率分布
Objective To analyze the polymorphisms and haplotypes of killer Ig-like killer (KIR) genes in Han population in Shanghai, and to provide clues for the further study of the association between KIRs and certain diseases in different populations. Methods The sequence-specific primers PCR method was used to detect KIR low-resolution 87 haplotypes in 87 unrelated healthy Han Chinese volunteers. Results (1) A total of 18 KIRs genes including Xv and KIR1D were detected. 3 DL 3,2 DL 4,3 DL 2 and 3 DL 1 are present in all individuals; more commonly 2 DL 3, Z, 2 DL 1, X; followed by 2 DS4, 1D, 2 DL 5, 2 DS1, 3 DS1,2 DS5; 2 DS2,2 DL 2,2 DS3, Xv Frequency is low. (2) A total of 13 haplotypes were detected, the most common being haplotype 2. (3) A total of 18 genotypes were detected. The most common genotypes were AJ (2, 2) and AF (1, 2), followed by AH (5,2), AI ). In addition there are 5 genotypes FZ1 (2, 9 or 6,16), FZ2 (1,16 or 2,15), FZ3 (6,17), FZ4 (4,13) and FZ5 (2,6) Not found in whites Conclusion Shanghai Han population has its unique KIRs gene frequency, haplotype frequency and genotype frequency distribution