HLA基因多态性与慢性粒细胞白血病的关联性研究

目的探讨人类白细胞抗原（HLA）基因多态性与慢性粒细胞白血病（CML）的关联性。方法采用聚合酶链反应序列特异性引物（PCR-SSP）分型技术对234例CML患者以及1370例无血缘关系健康对照者进行HLA-A/B/C/DRB1/DQB1基因分型,采用病例对照研究方法进行基因频率、单倍型频率以及疾病发生相对危险度（RR）的研究。结果 CML患者中HLA-Cw3及Cw7的基因频率较对照组显著升高（P〈0.05）,其RR分别为1.4777和3.0595。而HLA-Cw4基因型频率则显著降低（P=0.0020）,其RR为0.4331。扩展单倍型A2-B51-Cw14-DR9-DQ9与A11-B13-Cw3-DR12-DQ07的频率亦有显著性差异（P〈0.05）,其RR分别为3.1027和3.1606。两位点单倍型A2-Cw3、A24-Cw3、B15-Cw1与B40-Cw3的频率也存在显著性差异（P〈0.05）,其RR分别为2.5574、2.2544、3.8587及1.6853。结论通过大样本量的病例对照研究HLA基因多态性与CML之间的关联性探讨取得了初步结果：HLA-Cw3及Cw7与CML的易感性相关;HLA-Cw4则与CML发生呈负相关,可能是CML的保护性基因;某些HLA单倍型或扩展单倍型亦与CML的发生有关。

Correlation between polymorphism of HLA and chronic myelogenous leukemia

Objective To study the correlation between genetic polymorphism of human leukocyte antigen(HLA) and chronic myelogenous leukemia(CML).Methods 234 CML patients and 1370 healthy unrelated ones as the control group were genotyped by polymerase chain reaction sequence-specific primers(PCR-SSP) typing method for HLA-A/B/C/DRB1/DQB1 loci.The results of the two groups were analyzed by case control study method for gene frequencies,haplotype frequencies as well as the relative risk(RR) of disease.Results The gene f...