应用双色荧光原位杂交检测慢性粒细胞白血病衍生9号染色体缺失的研究  

Application of dual-color fluorescence in situ hybridization to study on deletions of derivative chromosome 9 in chronic myelogenous leukemia.

作　　者：徐方运[1] 李承文[1] 刘旭平[1] 秦爽[1] 代芸[1] 肖继刚[1] 贡金英[1] 黄琪[1] 王四平 李筱梅[1] 杨仁池[1] 王建祥[1] 林冬[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血液病医院,天津300020

出　　处：《中国实用内科杂志》2008年第5期358-359,共2页Chinese Journal of Practical Internal Medicine

基　　金：天津市科技攻关项目(编号05YESZSF02400)

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。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 cul- ture, 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 typi- cal 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.

关 键 词：慢性粒细胞白血病 衍生9号染色体 荧光原位杂交 

分 类 号：R5[医药卫生—内科学]