上海地区汉族人群杀伤细胞免疫球蛋白样受体基因多样性及单倍型组合研究  

Killer Ig-like receptor gene content diversity and haplotype analy sis in Chinese Han population in Shanghai

作　　者：张磊[1] Katharine C.Hsu Xiao-Rong Liu 杨珏琴[1] 姚芳娟[1] 许玲娣[1] Bo Dupont 范丽安[1] 

机构地区：[1]200025,上海第二医科大学,上海市免疫学研究所 [2]Memorial Sloan-Kettering Cancer Center, New York, USA

出　　处：《中华医学遗传学杂志》2003年第5期396-399,共4页Chinese Journal of Medical Genetics

基　　金：上海市科委重点项目 ( 0 2 DJ1 40 54);国家自然科学基金( 30 0 70 784 )

摘　　要：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。Objective: To detect the diversity of killer Ig-like receptor(KIR) gene content and the combination of haplotypes in Chinese Han population in Shanghai area. Methods: DNA samples from 87 randomly unrelated healthy individuals in Shanghai Han population were genotyped with SSP/PCR method. Results: (1) frequencies of KIR genes: All of 18 known KIRs genes, such as 2DL1-5, 2DS1-5, 3DL1-3, 3DS1, KIR1D and the pseudogenes X, Xv and Z(K1R2DP1) were observed in Shanghai Hans. All individuals contain 3DL3, 2DL4, 3DL2 and 3DL1; the most common genes were 2DL3, Z, 2DL1 and X; the following were 2DS4, 1D, 2DL5, 2DS1, 3DS1 and 2DS5; the next were 2DS2, 2DL2, 2DS3 and Xv. (2) Frequencies of KIR gene haplotypes: there were 13 haplotypes detected in 87 Han individuals, among them, the most frequent one was type 2 (haplotypeA-2DS4). (3) Frequencies of KIR genotypes: 18 kinds of the combinations of the haplotypes were observed; the most frequent ones were AJ(2,2), AF (1,2). Also, In this study were identified five new genotypes FZ1 (2,9), FZ2(1,16), FZ3(6,17), FZ4(4, 13) and FZ5(2,6), which had not been observed in Caucasians so far. Conclusion: These findings suggest that there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Chinese Han population in Shanghai area.

关 键 词：上海 汉族 杀伤细胞 免疫球蛋白样受体 基因多样性 KIR 单倍型 

分 类 号：R392[医药卫生—免疫学]