论文部分内容阅读
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。
Objective To investigate the deletion of partial sequence of derivative chromosome 9 (der) (9) in patients with chronic myeloid leukemia (CML) and to investigate the loss of der (9) part by dual-color fluorescence in situ hybridization The application value. Methods From March 2002 to December 2005, 150 cases of CML patients from Peking Union Medical College and Institute of Hematology, Chinese People’s Liberation Army were used to prepare chromosomes by short-term culture of bone marrow with no stimulant. R banding was performed for karyotype analysis. The bcr-abl double-stranded double-fusion DNA probe was used to detect the der (9) part of the bone marrow stromal cells by fluorescence in situ hybridization. Results A total of 124 cases of CML patients were analyzed by karyotype analysis, of which 3 failed. Among 121 patients, 97 were typical Ph chromosome translocation, 24 were translocation and 19 were chromosomal abnormalities. Two hundred and fifty cases of CML patients were detected by two-color fluorescence in situ hybridization, of which der (9) was partially deleted in 27 patients, the incidence was 18.00%. Nine cases were typical Ph chromosome translocations, accounting for 9.27% of typical Ph chromosome translocations; 12 cases were translocation, accounting for 50.00% of patients with translocation. The incidence of der (9) deletion in patients with translocation was significantly higher than that in patients with typical translocations (P <0.01). Conclusions The incidence of der (9) partial deletion in CML patients is about 18.00%. The loss of der (9) in CML patients can be detected easily, rapidly and sensitively by using double-color double-fusion FISH.