骨髓增生异常综合征(MDS)骨髓细胞微卫星遗传不稳定性研究  

MICROSATELLITE GENETIC INSTABILITY OF BONEMARROW CELLS IN THE EVOLUTIONOF MYELODYSPLASTIC SYNDROMES

作　　者：范振斌[1] 宋玉华[1] 李戈[1] 马小彤[1] 邵宗鸿[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,天津市南京路288号300020

出　　处：《白血病》1998年第3期152-155,共4页

基　　金：国家自然基金

摘　　要：为了探讨骨髓异常综合征（myelodysPlasticsyndromes，MDS）转化为白血病的发病机制，采用PCR放射自显影法分析了位于5P，17P和18q染色体上的Mfd27，Mfd41和DCC微卫星序列的杂合性丢失（LOH）及微卫星不稳定性（MI）。在14例MDS患者恶性演变过程中发现位于P53抑癌基日附近的Mfd41位点有改变，2例为LOH，2例为MI。在Mfd27位点也有改变，2例为LOH，回切为MI。6例阳性病例中有3例已转化为AML－M2m型。DCC位点未检测出改变。表明特定微卫星位点的杂合性丢失和微卫星不稳定性与MDS发展和转化为白血病紧密相关。To explore the molecular machanism of transformation from myelodysplastic syndromes (MDS) to acute leukemia, PCR--autoradiography was used for analysing the loss of heterozygosity (LOH) and microsatellite instability (MI) of 3 polymorphic microsatellite markers, Mfd27, Mdf41 and DCC, which located on chromosome 5q, 17p and 18q, respectively. 14 cases of MDS which covered the process from preleukemic phase to acute leukemia were analysed kinetically, LOH and MSI on the locus of Mfd41 which clusted near the tumor suppressor gene p53, 2 cases of LOH (14.3) %, 2 case of MSI (14.3% ). On the Mfd27 locus, 2 cases of LOH(14. 3% ) and 1 case of MSI(7. 1 % ) have been found. Among these positive cases, 3 of them had been transformed to acute leukemia FAB-M2 subtype. No change was found on the DCC microsatellite. These findings suggesting genetic instability of some microsatellites may play a role in the transfomation of MDS.

关 键 词：骨髓增生异常 杂合性丢失 微卫星不稳定性 

分 类 号：R551.3[医药卫生—血液循环系统疾病] R733.7[医药卫生—内科学]