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目的探讨人类白细胞抗原(HLA)-A/B/C/DRB1/DQB1基因多态性与急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)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277例ALL患者以及1370例健康无血缘关系对照组进行HLA-A/B/C/DRB1/DQB1基因分型,并将结果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率(RR)的研究。结果 ALL患者Cw7的基因频率较对照组升高(P<0.05),其RR为6.0202;而HLA-A30、B13及Cw4基因频率较对照组降低(P<0.05);其RR分别为0.5181、0.6907和0.4769。两位点单倍型B13-Cw6在疾病组较对照组频率显著性升高(P<0.05),其RR为4.7861。两位点单倍型A30-B13、A30-DR7、B13-DR7以及扩展单倍型A30-B13-Cw6-DR7-DQ2在疾病组均较对照组频率显著性降低(P<0.05),其RR分别为0.3566、0.4933、0.4824和0.4052。结论我们在中国汉族人群中通过大样本量的病例对照研究来探寻HLA基因多态性与ALL之间的关联性,并取得了初步结果。HLA-Cw7与ALL的易感性相关;HLA-A30、B13、Cw4基因频率则与ALL发生呈负相关,可能是ALL的保护性基因;某些HLA单倍型亦与ALL的发生有关。
Objective To investigate the association between human leukocyte antigen (HLA) -A / B / C / DRB1 / DQB1 gene polymorphism and acute lymphoblastic leukemia (ALL). Methods PCR-SSP typing was used to genotype HLA-A / B / C / DRB1 / DQB1 in 277 ALL patients and 1370 healthy unrelated controls. Results A case-control study was conducted to study the frequency of genes, the frequency of haplotypes, and the relative risk of disease (RR). Results The frequency of Cw7 gene in ALL patients was significantly higher than that in control group (P <0.05), and the RR was 6.0202. The frequencies of HLA-A30, B13 and Cw4 genes in ALL patients were lower than those in control group (P <0.05), and RRs were 0.5181 and 0.6907 And 0.4769. The frequency of haplotype B13-Cw6 was significantly higher in the disease group than in the control group (P <0.05), with a RR of 4.7861. The frequencies of haplotype A30-B13, A30-DR7, B13-DR7 and extended haplotype A30-B13-Cw6-DR7-DQ2 in the disease group were significantly lower than those in the control group (P <0.05) Respectively 0.3566, 0.4933, 0.4824 and 0.4052. Conclusions We sought to investigate the association between HLA polymorphisms and ALL using large sample size case-control studies in Chinese Han population and achieved preliminary results. HLA-Cw7 and ALL susceptibility; HLA-A30, B13, Cw4 gene frequency was negatively correlated with the occurrence of ALL, ALL may be protective genes; some HLA haplotype also with the occurrence of ALL.