核形正常的慢性淋巴细胞白血病13q14缺失的研究

目的研究核形正常的慢性淋巴细胞白血病（CLL）13q14缺失的情况。方法运用位于13q14的序列特异性DNA探针RB1、D13S319、D13S25和间期荧光原位杂交（I-FISH）技术对26例初发的CLL患者进行染色体13q14的检测。结果 26例B-CLL中12例（46.1%）有13q14缺失,阳性细胞率为25.0%～90.0%,其中RB1单独缺失0例,D13S319单独缺失3例（11.5%）,D13S25单独缺失3例（11.5%）;RB1、D13S319、D13S25同时缺失1例（3.9%）,D13S319、D13S25同时缺失有5例（19.2%）。结论 CLL患者13q14缺失区域是不恒定的,而I-FISH是研究13q14缺失准确而快速的方法。

Research of 13q14 deletion of chronic lymphocytic leukemia with normal karyotype

Objective To investigate the incidence of 13q14 deletion in chronic lymphocytic leukemia（CLL） with normal karyotype.Methods Sequence-specific DNA probes RB1,D13S319 and D13S25 for 13q14 and interphase fluorescence in situ hybridization（I-FISH） were applied to detect 13q14 deletion in 26 patients with incipient CLL.Results 12（46.1%） out of 26 patients had 13q14 deletion,and the positive cell rate was 25.0%-90.0%.Among the patients,no one had 13q14 deletion with RB1,3 patients（11.5%） had 13q14 deletion with D13S319,3 patients（11.5%） had 13q14 deletion with D13S25,1 patients（3.9%） had 13q14 deletion with RB1,D13S319 and D13S25,and 5 patients（19.2%） had 13q14 deletion with D13S319 and D13S25.Conclusions The region of deletion at 13q14 is variable,and the I-FISH is a rapid and accurate method for the analysis of 13q14 deletion in CLL.