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利用 HLA-DRB1-DQB1 分子鉴定进行急性白血病的诊断和随访。

Molecular identification of the HLA-DRB1-DQB1 for diagnosis and follow-up of acute leukemias.

机构信息

HLA Molecular Biology Laboratory, Faculty of Medical Science, State University of Campinas, Campinas, SP, Brazil.

出版信息

Blood Cells Mol Dis. 2010 Mar-Apr;44(2):69-73. doi: 10.1016/j.bcmd.2009.10.006. Epub 2010 Jan 3.

Abstract

We analyzed a group of 45 Brazilian individuals, 30 with acute myeloid leukemia (AML), 15 with acute lymphoid leukemia (ALL) and 100 healthy controls to assess genetic factor risk and HLA association contribution to the disease. Patient rates were compared with age and sex-matched control groups by directly typing the HLA-DRB1/3/4/5 and -DQB1 loci by PCR analysis. We observed significantly increased allelic distribution of HLA-DRB107 in AML patients and of HLA-DRB103 in ALL patients, which suggests that individuals in both groups are susceptible to the disease. We also found significantly decreased allelic distribution of HLA-DQB104 in AML patients and of HLA-DRB104 and -DQB103 in ALL patients, which suggests protection against the disease. We further found increased HLA-DRB107 and -DQB102 haplotypes in AML patients, which suggests susceptibility to the disease and decreased HLA-DRB104 and -DQB103 haplotypes in ALL patients, which also suggests protection against the disease. Future studies with larger and/or multicentric samples will be required for better comprehension of the HLA role in acute leukemia pathogenesis.

摘要

我们分析了一组 45 名巴西个体,其中 30 名患有急性髓细胞性白血病 (AML),15 名患有急性淋巴细胞性白血病 (ALL),100 名健康对照者,以评估遗传因素风险和 HLA 相关性对疾病的贡献。通过 PCR 分析直接对 HLA-DRB1/3/4/5 和-DQB1 基因座进行基因分型,将患者的比率与年龄和性别匹配的对照组进行比较。我们观察到 AML 患者 HLA-DRB107 等位基因分布显著增加,ALL 患者 HLA-DRB103 等位基因分布显著增加,这表明两组个体均易患该疾病。我们还发现 AML 患者 HLA-DQB104 等位基因分布显著减少,ALL 患者 HLA-DRB104 和-DQB103 等位基因分布显著减少,这表明对该疾病具有保护作用。我们进一步发现 AML 患者 HLA-DRB107 和-DQB102 单体型增加,表明易患该疾病,而 ALL 患者 HLA-DRB104 和-DQB103 单体型减少,也表明对该疾病具有保护作用。未来需要进行更大规模和/或多中心的研究,以更好地理解 HLA 在急性白血病发病机制中的作用。

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