广西壮族白血病与HLA高分辨等位基因多态性关联性的初步分析

Correlation between leukemia and HLA high-resolution alleles polymorphism in Guangxi Zhuang population

目的:初步分析广西壮族白血病与人类白细胞抗原(HLA)高分辨基因的相关性。方法:采用聚合酶链反应直接测序法(PCR-SBT)对广西壮族66例白血病患者(白血病组)进行HLA-A、B、C、DRB1和DQB1基因分型,使用Arlequin软件(3.5.2.2)计算HLA等位基因频率和单倍型频率,并与350例广西壮族健康人(对照组)比较。结果:白血病组HLA-A*2403(2.27%)、B*4601(21.21%)、C*1402(8.33%)、DRB1*1202(13.64%)和DQB1*0301(22.73%)的基因频率均高于相应的对照组(P<0.05),而白血病组DQB1*0502(25.76%)的基因频率低于对照组(P<0.05)。两组最常见的三位点和五位点单倍型一致,分别是A*3303-B*5801-DRB1*0301和A*3303-B*5801-C*0302-DRB1*0301-DQB1*0201。结论:HLA-A、B、C、DRB1和DQB1高分辨基因和单倍型的频率,在广西壮族白血病患者与广西壮族健康人群中基本一致,其中HLA-A*2403、HLA-B*4601、HLA-C*1402、HLA-DRB1*1202和HLA-DQB1*0301可能是广西壮族白血病的易感基因,HLA-DQB1*0502可能是其保护性基因。

Objective:To investigate the correlation between leukemia and human leukocyte antigen(HLA)high-resolution alleles in Guangxi Zhuang population.Methods:PCR-SBT method was used to investigate the genotypes of HLA-A,B,C,DRB1 and DQB1 high resolution alleles in 66 cases of leukemia(experimental group)in Guangxi Zhuang population,allelic and haplotypic frequencies were estimated by maximum likelihood estimation method using Arlequin software 3.5.2.2,compared with 350 healthy people in Guangxi Zhuang population(control group).Results:The genetic frequency of A*24:03(2.27%),B*46:01(21.21%),C*14:02(8.33%),DRB1*12:02(13.64%)and DQB1*03:01(22.73%)in experimental group was higher than that in the control group(P<0.05).The genetic frequency of DQB1*05:02(25.76%)in the experimental group was lower than in control group(P<0.05).The most common three-loci and five-loci haplotype were A*33:03-B*58:01-DRB1*03:01 and A*33:03-B*58:01-C*03:02-DRB1*03:01-DQB1*02:01 in the experimental group and the control group.Conclusion:The genetic frequency of HLA-A,B,C,DRB1 and DQB1 high-resolution alleles and haplotypes are consistent in the cases of leukemia in Guangxi Zhuang population.There is susceptibility association of A*24:03,B*46:01,C*14:02,DRB1*12:02 and DQB1*03:01 with leukemia of Guangxi Zhuang populations,while DQB1*05:02 is a resistant allele for leukemia of Guangxi Zhuang populations.