中国汉族人群骨肿瘤杀伤细胞免疫球蛋白样受体基因多态性初步分析

目的:探讨中国汉族骨肿瘤患者发病与自然杀伤细胞(NK)免疫球蛋白样受体(KIR)多态性的相关性。方法:采用PCR/SSP法检测57例汉族原发性骨肿瘤患者外周血中KIR的表达。所有病例均经临床和病理确诊,其中恶性骨肿瘤30例,良性骨肿瘤13例,骨巨细胞瘤14例。87名上海地区无血缘关系的随机健康个体为正常对照。结果:骨巨细胞瘤组KIR3DL1基因频率较正常对照组降低(54.0%比100.0%,P<0.001)。而在良性及恶性骨肿瘤组中,未发现KIR基因频率与正常对照组间有统计学差异。各病例组与对照组之间未发现KIR单倍型频率有统计学差异。与正常对照组比较,AE基因型频率在恶性骨肿瘤组中升高(16.7%比3.5%,P<0.05);AE和B基因型在良性骨肿瘤组中升高〔分别为23.1%比3.5%(P<0.05)和7.7%比0%(P<0.05)〕;AN和F基因型在骨巨细胞瘤组中升高(均为7.1%比0%,P<0.05)。结论:KIR3DL1与中国汉族人骨巨细胞瘤发生呈负相关,该基因表达缺失可能易致骨巨细胞瘤发生。同时,AE、B、AN和F等KIR基因型可能与骨肿瘤的发生也具一定相关性。

A pilot study on the polymorphism of natural killer cell immunoglobulin-like receptor in Chinese Han nationality

Objective To explore the relationship between immunoglobulin-like receptor (KIR) polymorphism expressed by natural killer(NK) cells and the occurrence of the bone tumors in Chinese Han nationality people. Methods The KIR expression in 57 primary bone tumor patients' peripheral blood were detected with polymerase chain reaction/sequence specific primer (PCR/SSP). All the patients' diagnoses were confirmed by clinical and pathological examinations, including 30 malignancies, 13 benignancies and 14 giant cell tumors. Eighty-seven healthy people without blood relationship were enrolled as controls. Results The KIR3DL1 gene frequency in the giant cell tumor group was lower than that in the control group(54.0% vs 100.0%, P<0.001). No statistical difference of gene frequency was found between the benign or malignant tumor group and the control group. In comparison with the control group, AE genotype frequency in the malignant tumor group (3.5% vs 16.7%, P<0.05) , AE and B genotype frequency in the benign tumor group (3.5% vs 23.1%,P<0.05 and 0% vs 7.7%, P<0.05, respectively), and AN and F genotype frequency in the giant cell tumor group (both 0% vs 7.1%, P<0.05) elevated with statistical significance. Conclusions There appears a negative relationship between the KIR3DL1 gene and the occurrence of giant cell tumor in Han nationality. Meanwhile, the genotype AE, B, AN and F are possibly associated with the occurrence of some bone tumors as well.