MDS相关基因检测及其临床意义的研究  

Detection of MDS-related gene expression and its significance

作　　者：毕可红[1] 任海全[2] 张玉昆[2] 唐天华[2] 马庆恒[2] 郭桂月[1] 王俊伟[2] 姜国胜[2] 

机构地区：[1]山东省千佛山医院血液科,山东济南250014 [2]山东省医学科学院基础医学研究所血液肿瘤防治研究中心山东省医药卫生肿瘤免疫与中药免疫重点实验室,山东济南250062

出　　处：《肿瘤防治杂志》2005年第18期1374-1378,共5页China Journal of Cancer Prevention and Treatment

基　　金：山东省卫生厅科技计划项目(1999CA1DCB2)

摘　　要：目的:探讨骨髓增生异常综合征(myelo dysplastic syndrome,MDS)患者发生与演变相关基因。方法:采用RT-PCR方法测定WT1、Evi1、Evi1-MDS1和微卫星遗传不稳定性。结果:Evi1和MDS1-Evi1基因阳性表达率分别为51·9%(14/27)和62·9%(17/27)。其中低危组RA/RAS和高危组RAEB/RAEB-T/CMML的Evi1基因总表达率分别占14·8%(4/27)和37·0%(10/27),MDS1-Evi1基因总表达率分别占25·9%(7/27)和37·0%(10/27);MDS患者WT1表达阳性率为55·6%(15/27),低危组RA/RAS和高危组RAEB/RAEB-T/CMML的WT1基因总表达率分别占14·8%(4/27)和40·7%(11/27);MDS患者微卫星遗传不稳定性检测结果表明,6例RA患者中发生Mfd27位点LOH0例,MI1例,9p21位点发生LOH1例,MI0例。5例RAS中发生Mfd27位点LOH2例,MI0例,9p21位点发生LOH0例,MI0例,低危组RA/RAS患者发生LOH或MI的共4例。7例RAEB中发生Mfd27位点LOH2例,MI0例,9p21位点发生LOH0例,MI1例,7例RAEB-T中发生Mfd27位点LOH1例,MI3例,9p21位点发生LOH0例,MI1例,2例CMML中1例Mfd27位点发生LOH。高危组RAEB/RAEB-T/CMML患者发生LOH或MI的共9例。结论:WT1、Evi1和微卫星遗传不稳定性与MDS发生和演变有关。OBJECTIVE： To detect the mechanism of pathogenesis and its transformation of myelodysplastic syndrome. METHODS： Expressions of Evil and MDSI-Evil genes were examined by semi-quantative RT-PCR. Nest RT-PCR technique was used to detect the expression of WT1 gene. The loss of heterozygosity （LOH） and the microsatellite instability （MSI） of Mfd27 and 9p21 polymorphic microsatellite markers were assayed by standard PCR-silver staining analysis in bone marrow cells. RESULTS： Evil and MDS1-Evil were negative in 6 patients with AA （aplastic anemia）. The Evil expression percent was 51.8% in 14 of 27 patients, white the, MDS1 Evil expression percent was 62.96%. The total expression percent of Fvil gene in RAEB RAEB-T CMML was higher than that in RA RAS group. Otherwise, there was no difference of MDS1-Evil gene expression between RA RAS and RAEB/RAEB-T/CMMI. groups. The WT1 percent in patients with MDS was higher than that in AA patients, with 55.6 % （ 15/27 ） and 0 （ 0/6 ） respectively. The total WT1 percent （40.7%） of patients with RAEB/RAEB-T/CMML was higher than that （14.8%） of patients with RA RAS. The, loss of heterozygosity （LOH）. the microsatellite instability （MSI） of Mfd97 and 9p21 polymorphic microsatellite markers were detected and analysed in patients with MDS. The positive percent of LOH or MSI in RAEB RAEB-T/CMML group was higher than that in RA/RAS group, with 36.3% （4/11 ） and 56.5% （9/16） respectively.CONCLUSIONS ： The loss of heterozygosity （ LOH ） and the microsatellite instability （MS1） of Mfd27 and 9p21 polymorphic microsatellite markers, and the expressions WT1 and Evil are related to the pathogenesis and transformation of MDS.

关 键 词：MDS 微卫星遗传不稳定性 遗传性缺失 

分 类 号：R55[医药卫生—血液循环系统疾病]