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

探讨错配修复基因连锁的微卫生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患者加速中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Ｄ２ｓ１２３和Ｄ３ｓ１２９８微卫星的改变,占２７．８％,其中１例出现在加速期,４例出现在急变期。３例患者Ｄ２ｓ１２３微卫星发生改变。１例出现在加速 等位基因微卫星序列的杂合性缺失;２例出现在急变期,杂

Thegenetic instability of mismatch repair gene linked microsatellite and the evolution of CML

Objective　To explore the relationshipbetween the genetic instability of microsatellite linked with mismatch repair gene and theevolution of CML to blast crisis. Methods　The loss of heterozygosity (LOH) and microsatelliteinstability (MSI) of two polymorphic microsatellite markers, D2s123 and D3s1298, linkedwith mismatch repair gene hMSH2 and hMLH1 respectively, were detected by PCR-silverstaining method on the bone marrow cells of 18 CML patients, who clinically progressedfrom the chronic phase to accelerated phase or blast crisis. Results　Differences in microsatelliteD2s123 and D3s1298 at the CML accelerated phase or blast crisis in 5 (27.8%) of the 18patients were demonstrated compared with chronic phase. For D2s123, MSI and LOH wereobserved in 1 of 8 patients with accelerated phase (12.5%) and 2 of 10 patients in blastcrisis (20%). For D3s1298, MSI and LOH were observed in 2 of 10 patients in blast crisis(20%). Conclusion　The genetic alteration of microsatellite D2s123 andD3s1298 may play a role in the progress of some CML cases.