【摘要】 目的研究慢性粒细胞白血病(chronicmye logenous leukemia,CML)患者衍生9号染色体[derivative chromosome 9,der(9)]部分序列缺失情况,探讨双色荧光原位杂交(FISH)技术检测der(9)部分缺失的应用价值。方法对2002年3月至2005年12月中国协和医科大学血液学研究所150例CML患者采用不加任何刺激剂的骨髓24h短期培养法制备染色体,R显带进行核型分析。应用bcr-abl双色双融合DNA探针对骨髓间期细胞行荧光原位杂交,检测der(9)部分序列缺失。结果124例CML患者进行了染色体核型分析,其中3例分析失败,121例患者中典型Ph染色体易位97例,变异易位24例,同时伴附加染色体异常19例。150例CML患者均进行了双色荧光原位杂交检测,其中27例患者der(9)部分缺失,发生率为18.00%。9例为典型Ph染色体易位,占典型Ph染色体易位患者的9.27%;12例为变异易位,占变异易位患者的50.00%。变异易位患者中的der(9)缺失发生率明显高于典型易位患者,差异有统计学意义(P<0.01)。结论在CML患者中der(9)部分缺失的发生率约为18.00%,应用双色双融合FISH技术能够简便、快速、灵敏的检测出CML患者der(9)缺失。更多还原

【Abstract】 Objective To investigate the frequency of derivative chromosome 9[der(9)]deletions in patients with chronic myeloid leukemia(CML),and evaluate the value of dual-color fluorescence in situ hybridization(D-FISH)in detection of der(9)deletions.Methods During March 2002 and December 2005 bone marrow cells of 150 chronic myelogenous leukemia in Institute of Hematology & Blood Diseases Hospital,CAMS & PUMC,were performed by 24 h unstimulated culture,R-banding and karyotype by conventional cytogenetic analysis(CCA).Deletions of der(9)were investigated by FISH with dual-color and dual-fusion bcr-abl DNA probe in interphase cells of bone marrow.Results CCA showed typical Ph translocation in 97/124(78.23%)and variant Ph translocation in 24/124(19.35)and 19/124(15.32%)with additional chromosome aberrations.Deletions of der(9)were identified by D-FISH in 27/150(18.00%),9 of 97 patients with typical Ph translocation and 12 of 24 patients with variant Ph translocation.The frequency of deletions was significant(P<0.01)between typical and variant Ph translocation patients.Conclusion Deletions are detected in about 1/5 CML patients.D-FISH can be used as a convenient,rapid and sensitive method to detect der(9)deletions in CML.更多还原