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目的:探讨人类白细胞抗原（HLA）Ⅰ类（A、B、C）、Ⅱ类（DRB1、DQB1、DPB1）等位基因和单倍体多态性与中国南方汉族急性淋巴细胞白血病（ALL）、急性髓系白血病（AML）以及慢性粒细胞白血病（CML）的相关性。方法:收集深圳市血液中心845例中国南方汉族白血病患者（323例ALL、350例AML及172例CML）和745名中国南方汉族健康献血者的外周血样本。应用聚合酶链反应反向序列特异性寡核苷酸探针杂交（PCR-rSSO）及测序分型（PCR-SBT）方法对HLA-A、-B、-C、-DRB1、-DQB1和-DPB1进行基因分型，鉴定HLA等位基因前4位数。采用Arlequin 3.5软件分析HLA单倍体；从HLA低分辨水平（等位基因前2位数）及高分辨水平（等位基因前4位数）分别统计分析HLA等位基因和单倍体多态性与3种白血病的相关性。结果:经Bonferroni校正，ALL组A*02（36.22%比28.26%，n χ2=13.41，n PC<0.01）及其单倍体A*02-B*46-C*01（15.35%比10.23%，n χ2=10.90，n PC=0.02）、DRB1*12（15.79%比11.10%，n χ2=9.02，n PC=0.03）、A*02：03（9.75%比5.32%，n χ2=14.25，n PC=0.002）及其单倍体A*02：03-B*38：02-C*07：02（3.80%比1.51%，n χ2=10.41，n PC=0.02）的频率均高于对照组，是ALL易感因素；AML组A*11-B*15-C*08-DRB1*15-DQB1*06-DPB1*02的频率高于对照组（1.34%比0.07%，n χ2=12.54，n PC=0.003），是AML易感单倍体；CML组A*02（36.63%比28.26%，n χ2=9.33，n PC=0.02）及其单倍体A*02-B*15-C*04（2.17%比0.29%，n χ2=11.74，n PC=0.02）、DRB1*03：01-DQB1*02：01-DPB1*02：01（1.86%比0.14%，n χ2=13.10，n PC=0.01）的频率均高于对照组，是CML易感因素；CML组DRB1*13的频率低于对照组（1.45%比5.25%，n χ2=9.29，n PC=0.03），是CML拮抗基因。n 结论:在HLA低分辨及高分辨水平发现了白血病易感或拮抗HLA等位基因和单倍体，可为探究中国南方汉族白血病发病机制并制订有效治疗策略提供参考。“,”Objective:To investigate the association of human leukocyte antigen (HLA) class Ⅰ (A, B and C), class Ⅱ (DRB1, DQB1 and DPB1) allelic and haplotypic polymorphisms with acute lymphoblastic leukemia (ALL), acute myeloid leukemia(AML) and chronic myeloid leukemia (CML) in Han nationality of southern China.Methods:The peripheral blood samples of 845 leukemia patients (323 cases of ALL, 350 cases of AML and 172 cases of CML) and 745 healthy blood donors from Han nationality of southern China in Shenzhen Blood Center were collected. The HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 genes were genotyped by using polymerase chain reaction-reverse sequence specific oligonucleotide (PCR-rSSO) and polymerase chain reaction-sequence based typing (PCR-SBT) methods to identify the first 4 digits of HLA alleles. The Arlequin 3.5 software was used to analyze HLA haplotypes. The correlations between HLA allelic and haplotypic polymorphisms and three types of leukemia were statistically analyzed at HLA low-resolution level (the first 2 digits of alleles) and high-resolution level (the first 4 digits of alleles), respectively.Results:P-values were adjusted by Bonferroni correction. In ALL group, the frequencies of A*02 (36.22% vs. 28.26%, χ n 2 = 13.41, n PC < 0.01) and its haplotype A*02-B*46-C*01 (15.35% vs. 10.23%, χ n 2 = 10.90, n PC = 0.02), DRB1*12 (15.79% vs. 11.10%, χ n 2 = 9.02, n PC = 0.03), A*02:03 (9.75% vs. 5.32%, χ n 2 = 14.25, n PC = 0.002) and its haplotype A*02:03-B*38:02-C*07:02 (3.80% vs. 1.51%, χ n 2 = 10.41, n PC = 0.02) were higher than those in healthy controls, which implied that these factors could confer risk effect in ALL. In AML group, the frequency of A*11-B*15-C*08-DRB1*15-DQB1*06-DPB1*02 (1.34% vs. 0.07%, χ n 2 = 12.54, n PC = 0.003) was significantly higher than that in healthy controls, suggesting that the risk effect might be conferred by this haplotype. In CML group, the frequencies of A*02 (36.63% vs. 28.26%, χ n 2 = 9.33, n PC = 0.02) and its haplotype A*02-B*15-C*04 (2.17% vs. 0.29%, χ n 2 = 11.74, n PC = 0.02), and DRB1*03:01-DQB1*02:01-DPB1*02:01 (1.86% vs. 0.14%, χ n 2 = 13.10, n PC = 0.01) were higher than those in healthy controls, which implied that these factors could confer risk effect in CML, whereas the frequency of DRB1*13 (1.45% vs. 5.25%, χ n 2 = 9.29, n PC = 0.03) was lower than that in healthy controls, suggesting that it was a CML antagonistic gene.n Conclusion:Leukemia susceptible or antagonistic HLA alleles and haplotypes are found at low-resolution and high-resolution levels of HLA, which might provide reference for investigating the pathogenesis of leukemia and guiding formulation of effective treatment strategies in Han nationality of southern China.