错配修复基因相连锁的微卫星与慢性粒细胞白血病急性变的关系  

The genetic instability of mismatch repair gene linked microsatellite and the evolution of CML

作　　者：李戈[1] 宋玉华[1] 钱林生[1] 马小彤[1] 林永敏[1] 王敏慧[1] 吴克复[1] 

机构地区：[1]中国医学科学院中国协和医科大学血液学研究所,天津300020

出　　处：《中华医学杂志》2000年第3期180-182,共3页National Medical Journal of China

基　　金：国家自然科学基金资助项目 !( 3 95 70 3 2 2 )

摘　　要：目的　探讨错配修复基因连锁的微卫星DNA的遗传改变与慢性粒细胞白血病 (CML)加速急变之间的关系。方法　采用PCR 银染方法对 18例CML患者加速期或急变期的骨髓细胞与其慢性期进行比较。结果　 5例CML患者中出现D2s12 3和D3s12 98微卫星的改变 ,占 2 7.8% ,其中 1例出现在加速期 ,4例出现在急变期。 3例患者D2s12 3微卫星发生改变 ,1例出现在加速期 ,为等位基因微卫星序列的杂合性缺失 ;2例出现在急变期 ,杂合性缺失和微卫星遗传不稳定性各 1例。 2例患者D3s12 98微卫星发生改变 ,出现在急变期 ,均为微卫星遗传不稳定性。结论　与错配修复基因连锁的微卫星DNA的遗传改变可能与部分CML患者的加速急变有一定的关系。Objective To explore the relationship between the genetic instability of microsatellite linked with mismatch repair gene and the evolution of CML to blast crisis. Methods The loss of heterozygosity (LOH) and microsatellite instability (MSI) of two polymorphic microsatellite markers, D2s123 and D3s1298, linked with mismatch repair gene hMSH2 and hMLH1 respectively, were detected by PCR silver staining method on the bone marrow cells of 18 CML patients, who clinically progressed from the chronic phase to accelerated phase or blast crisis. Results Differences in microsatellite D2s123 and D3s1298 at the CML accelerated phase or blast crisis in 5 (27.8%) of the 18 patients were demonstrated compared with chronic phase. For D2s123, MSI and LOH were observed in 1 of 8 patients with accelerated phase (12.5%) and 2 of 10 patients in blast crisis (20%). For D3s1298, MSI and LOH were observed in 2 of 10 patients in blast crisis (20%). Conclusion The genetic alteration of microsatellite D2s123 and D3s1298 may play a role in the progress of some CML cases.

关 键 词：白血病 慢粒 急性变 微卫星 错配修复基因 

分 类 号：R733.7[医药卫生—肿瘤]