论文部分内容阅读
目的:探讨微卫星DNA杂合性缺失与急性淋巴细胞白血病(ALL)的相关性。方法:ALL患者72例,其中T-ALL 9例,B-ALL 55例,慢性粒细胞性白血病(慢粒)急淋变 8例,应用 PCR-变性聚丙烯酰胺凝胶电泳－银染技术,检测 ATM基因 DllS2179位点、BRCA2基因 D13S260位点和 D13S25位点在 B-ALL、T-ALL和慢粒急淋变患者的微卫星杂合性缺失(LOH)。结果:72例ALL患者中．3位点总LOH频率为26．4%。D11S2179、D13S260和D13S25 3位点LOH的发生频率分别为15．3%、12．5%和5．5%。B-ALL患者3个位点平均LOH发生率为12．7%。在D11S2179和 D11S260 2位点同时发生 LOH频率为 9．1%。9例 T-ALL患者未发现 LOH。8例慢粒急淋变患者只在D11S2179位点检测到3例LOH(37．1%),其他2位点未见异常。结论:ATM基因、BRCA2基因和D13S25位点微卫星的LOH与B-ALL的发病存在相关性;而ATM基因遗传不稳定性可能参与慢粒急淋变过程。
Objective: To investigate the association between microsatellite DNA loss of heterozygosity and acute lymphoblastic leukemia (ALL). Methods: A total of 72 patients with ALL, including 9 cases of T-ALL, 55 cases of B-ALL and 8 cases of acute myeloid leukemia (CML), were studied by PCR-denaturing polyacrylamide gel electrophoresis- Microsatellite heterozygosity (LOH) deletion was detected in DllS2179 of ATM gene, D13S260 of BRCA2 gene and D13S25 in B-ALL, T-ALL and chronic myeloid leukemia patients. Results: 72 patients with ALL. The total LOH frequency at 3 loci was 26.4%. The frequencies of LOH at D11S2179, D13S260 and D13S25 3 sites were 15.3%, 12.5% and 5.5%, respectively. The average incidence of LOH at 3 sites in B-ALL patients was 12.7%. The LOH frequency was 9.1% at the D11S2179 and D11S260 sites simultaneously. Nine cases of T-ALL patients found no LOH. In 8 cases of CML patients, only 3 cases of LOH (37.1%) were detected at D11S2179 and no abnormality was found in the other 2 sites. CONCLUSION: There is a correlation between LOH of ATM gene, BRCA2 gene and D13S25 microsatellite and the incidence of B-ALL. The genetic instability of ATM gene may be involved in the process of acute myeloid leukemia.