急性白血病ATM基因和BRCA2基因的杂合性缺失

Lose of heterozygosity of ATM gene and BRCA2 gene in acute leukemia

目的 :探讨急性淋巴细胞白血病 (ALL)与急性非淋巴细胞白血病 (ANLL)ATM基因和BRCA2基因杂合性缺失及其相互关系。方法 :应用PCR 变性聚丙烯酰胺凝胶电泳 银染技术检测ATM基因D11S2 179位点和BRCA2基因D13S2 6 0位点的杂合性缺失 (LOH)。结果 :6 4例ALL患者中两位点LOH发生率为 18.7% ;D11S2 179和D11S2 6 0两位点LOH的发生频率分别为 12 .5 %和 14.0 % ;两位点同时发生LOH的频率为 7.8%。38例ANLL患者中两位点LOH的发生率为 7.9% ,D11S2 179和D13S2 6 0两位点的LOH发生频率分别为 2 .6 %和 5 .2 %。两组总发生率比较差异有显著性意义 (P <0 .0 5 )。结论 :ATM基因和BRCA2基因的LOH可能参与ALL的病理发生 。

Objective:To investigate the loss of heterozygosity (LOH) of ATM gene and BRCA2 gene and explore the relationship between two genes in patients with ALL and ANLL.Method:PCR-polyacrylamide gel electrophoresis-silver staining techniques was used to test the LOH of D11S2179 and D13S260,which located in ATM gene and BRCA2 gene respectively.Result:The LOH frequency at the two sites was 18.7% in ALL and the frequency of LOH at D11S2179 and D13S260 loci was 12.5% and 14% respectively,and the LOH rates detected in the same patent at both loci was 7.8%.The total frequency of LOH in 38 patients with ANLL was 7.9%.LOH rates,at D112179 and D13S260,was 2.6 and 5.2% respectively.Significant difference of LOH frequency was shown between two patients group (P< 0.05).Conclusion:LOH of ATM gene and BRCA2 gene was associated with the pathogenesis of ALL,while no obvious correlation was found between LOH of two microsatellite sites and ANLL.