慢性淋巴细胞白血病13q14缺失的基因检测-MediaCorporateIRNet.PDF

328 分子诊断与治疗杂志　2010 年9 月第2 卷第5 期　J Mol Diagn Ther, September 2010, Vol. 2 No. 5 · · •论 著• 慢性淋巴细胞白血病13q14缺失的基因检测 ★ 王志林 　姚玉华　曹祥山　钱新瑜 [ 摘 要] 目的 研究慢性淋巴细胞白血病 （CLL ）13q 14 缺失的情况。 方法 运用位于13q 14 的序列特异性DNA 探针RB 1、D 13S319、D 13S25 和间期荧光原位杂交 （I-FISH ）技术对26 例初发的B 细胞CLL 患者进行染色体 13q 14 的检测。 结果 26 例B-CLL 中14 例 （53.8% ）有 13q 14 缺失，阳性 细胞率为30.0%~90.0% ，其中RB 1缺失2 例（7.7% ），D 13S319 缺失11例（42.3% ），D 13S25 缺失13（50.0% ）； RB 1、D 13S319、D 13S25 同时缺失2 例，D 13S319、D 13S25 同时缺失有8 例 （30.7% ）。 结论 CLL 患 者 13q 14 缺失区域是不恒定的。 [ 关键词] 荧光原位杂交；慢性淋巴细胞白血病；13q 14 缺失 Genetic test of 13q14 deletion of chronic lymphocytic leukemia WANG Zhilin ★, YAO Yuhua, CAO Xiangshan, QIAN Xinyu (Department of Hematology, the Third Affiliated Hospital of Suzhou University, the First Peoples Hospital of Changzhou, Jiangsu, Changzhou 2 13003, China) [ABSTRACT] Objective To investigate the incidence of 13q 14 deletion [ del (13q 14) ] in chronic lymphocytic leukemia (CLL). Methods Fluorescence in situ hybridization(FISH) and sequence-specific DNA probes RB 1, D 13S319, D 13S25 for 13q 14 were applied to detect del (13q 14) in 26 patients with B-CLL. Results Of the twenty-six patients, fourteen had 13q 14 deletion, the incidence of del (13q 14) was 53.8%. Among the patients, two had del(13q 14) with RB 1, eleven had del(13q 14) with D 13S319, thirteen had del(13q 14) with D 13S25, two had del(13q 14) with RB 1, D 13S319 and D 13S25, eight had del(13q 14) with D 13S319 and D 13S25. Conclusion The region of loss at 13q 14 is variable, the FISH is a rapid and sensitive technique for analysis of del (13q 14) in CLL. [KEY WORDS] Fluorescence in situ hybridization; Chronic lymphocytic leukemia; Del(13q 14) 慢性淋 巴细胞 白血病 （chronic lymphocytic 针GLP RB 1、GLP D 13S319、GLP D 13S25 ，回顾性 leukemia ，CLL ）是一种低