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目的探讨急性淋巴细胞白血病患者的杀伤细胞免疫球蛋白样受体(killer cell immunoglobulin-like receptors,KIR)和人类白细胞抗原(human leukocyte antigen,HLA)HLA-A、B等位基因多态性。方法采用Luminex流式技术-序列特异性寡核苷酸探针反向杂交(flow cytometry-sequence specific oligonucleotide probe,FLOW-SSOP)方法对内蒙地区48例急性淋巴细胞白血病患者HLA-A、B等位基因多态性进行分析,PCR-SSP技术进行KIR抑制基因的低分辨率检测。以北方地区健康群体资料作为正常对照。结果 (1)在急性淋巴细胞白血病中HLA-A*31XX,A*6901等位基因频率高于对照组(1.955%,0.071%),差异有统计学意义(P<0.05);A*33XX等位基因频率低于对照组(5.825%),差异有统计意义(P<0.05);(2)在HLA-B等位基因中,急性淋巴细胞白血病B*07XX,*27XX,*38XX,*41XX,*49XX,*59XX等位基因频率高于对照组(2.069%,0.968%,0.702%,0.091%,0.051%,0.061%),差异有统计学意义(P<0.05);其中HLA-B*59XX的相对危险度高(RR=35.156),其它等位基因频率在两组之间无显著性差异。在急性白血病患者中,高频率KIR基因有KIR3DP1,2DP1,2DL1,2DL3,3DL1、2DL5,2DS4及3DS1。急性白血病组3DL1基因型频率比对照组的显著降低。结论 HLA-A*31XX,A*6901;B*07XX,B*27XX,B*38XX,B*41XX,B*49XX,B*59XX;等位基因与ALL相关联,有遗传易感作用。HLA-B*59XX等位基因携带者,可能患ALL的危险度增高(RR=35.156)KIR3DL1和2DS4均与ALL呈关联。
Objective To investigate the polymorphisms of killer cell immunoglobulin-like receptors (KIR) and HLA-A, B alleles in patients with acute lymphoblastic leukemia. Methods Flow cytometry-sequence specific oligonucleotide probe (FLOW-SSOP) was used to detect HLA-A and B alleles in 48 patients with acute lymphoblastic leukemia in Inner Mongolia Gene polymorphism analysis, PCR-SSP technology for low-resolution detection of KIR suppressor genes. Data from healthy population in the north of China were used as normal controls. Results (1) The frequencies of HLA-A * 31XX and A * 6901 alleles in acute lymphoblastic leukemia were significantly higher than those in control group (1.955%, 0.071%, P <0.05) (2) In the HLA-B allele, acute lymphoblastic leukemia B * 07XX, * 27XX, * 38XX, * 41XX , The frequencies of * 49XX and * 59XX alleles were significantly higher than those in the control group (2.069%, 0.968%, 0.702%, 0.091%, 0.051% and 0.061%, respectively) The relative risk of 59XX was high (RR = 35.156), with no significant difference in other allele frequencies between the two groups. Among acute leukemia patients, the high-frequency KIR genes are KIR3DP1, 2DP1, 2DL1, 2DL3, 3DL1, 2DL5, 2DS4 and 3DS1. The frequency of 3DL1 genotype in acute leukemia group was significantly lower than that in control group. Conclusion HLA-A * 31XX, A * 6901; B * 07XX, B * 27XX, B * 38XX, B * 41XX, B * 49XX, B * 59XX; alleles associated with ALL have genetic predisposition. HLA-B * 59XX alleles may have an increased risk of ALL (RR = 35.156) Both KIR3DL1 and 2DS4 are associated with ALL.