伴变异型Ph易位的慢性髓细胞白血病的分子遗传学研究

目的探讨荧光原位杂交（fluorescence in situ hybridization，FISH）及多重荧光原位杂交（multiplex FISH．M-FISH）技术在检测伴变异型Ph易位（variant philadelphia translocation，vPh）的慢性髓细胞自血病（chronic myeloid leukemia，CML）中遗传学改变的意义。方法对10例常规R显带显示伴vPh的CML以双色双融合FISH技术检测其染色体标本。对于间期细胞中仅有单个融合信号的标本，观察其中期细胞，以确定是否为衍生9号染色体[der（9）]缺失。同时对这10例CML进行M—FISH技术检测。结果FISH技术在10例伴vPh的CML中检测到5例存在der（9）缺失。M—FISH检测到除22号染色体外，1、3、5、6、8、10、11和17号染色体也参与vPh，发现了常规细胞遗传学未发现的异常，包括2种未见报道的异常。结论对伴vPh的CML联合使用常规细胞遗传学、FISH、M—FISH技术可使遗传学诊断更加完善。

Molecular genetics in chronic myeloid leukemia with variant Ph translocation

Objective To explore the value of fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) techniques in the detection of genetic changes in chronic myeloid leukemia (CML) with variant Philadelphia translocation (vPh). Methods Cytogenetic preparations from 10 CML patients with vPh confirmed by R banding were assayed with dual color dual fusion FISH technique. If only one fusion signal was detected in interphase cells, metaphase cells were observed to determine if there were derivative chromosome 9[der(9)] deletions. Meanwhile, the same cytogenetic preparations were assayed with M-FISH technique. Results Of the 10 CML patients with vPh, 5 were detected with der(9) deletions by FISH technique. M-FISH technique revealed that besides the chromosome 22, chromosomes 1,3,5,6,8,10,11 and 17 were also involved in the vPh. M-FISH technique also detected the abnormalities which were not found with conventional cytogenetics (CC), including two never reported abnormalities. Conclusion The combination of CC, FISH and M-FISH technique could refine the genetic diagnosis of CML with vPh.