多种荧光探针联合检测在意义未明单克隆免疫球蛋白病诊断中的价值  

The diagnostic value of multiple fluorescent probe in monoclonal gammopathy of undetermined significance

作　　者：方鹏[1] 张国平[1] 曹鹏飞[1] 徐宏向[1] 高银[1] 赵谢兰[1] 李晓林[1] 陈方平[1] 

机构地区：[1]中南大学湘雅医院血液科,湖南省长沙市410008

出　　处：《实用医学杂志》2012年第22期3683-3686,共4页The Journal of Practical Medicine

基　　金：湖南省科学技术协会资助项目(编号:Y09-4);中南大学学位论文创新资助项目(编号:2501-713360010)

摘　　要：目的:探讨多种荧光探针检测意义未明单克隆免疫球蛋白病(MGUS)患者1q21扩增、13q14缺失、P53基因缺失发生情况及其诊断价值。方法:采用1q21、RBl、D13S319及p53四种DNA序列特异性探针和荧光原位杂交技术(FISH)检测19例MGUS患者上述各种核型异常。结果:19例MGUS患者中,lq21扩增1例(5.3%);13q14缺失3例(15.8%),其中RB1、D13S319探针同时检出1例13号染色体异常;P53基因缺失1例(5.3%);上述核型异常总的发生率为26.3%。结论:13q14缺失在MGUS中发生率较高,多种荧光探针同时检测可提高检出率,多探针FISH技术有望成为MGUS的新评价标准,可作为MGUS的常规检查方法。Objective To investigate the duplication of lq21 as well as the deletion of chromosome 13 and p53 gene in Monoclonal Gammopathy of Undetermined Significance （MGUS） and their diagnostic value. Methods Fluorescence in situ hybridization （FISH） was performed by using the lq21,RB1,D13S319 and p53 DNA specific probes to detect these karyotypic abnormalities in 19 patients with MGUS. Results Among the 19 patients, 1@1 duplication was observed in 1 （5.3%） cases; the del （13q14） was observed in 3 （15.8%） cases, among which RB1 deletion and D13S319 deletion were simultaneously observed in 1 case; p53 deletion was found in 1 （5.3%）cases. The total incidence of these karyotypic abnormalities is 26.3%. Conclusion There is a high frequency of 13q14 deletion in MGUS ; It will raise the detection rate of karyotypic abnormalities in MGUS by using multiple fluorescent probe simultaneously ; Muhi-probe FISH was expected to become a new evaluation standards of MGUS, and it can be used as a conventional methods of MGUS.

关 键 词：意义未明单克隆免疫球蛋白病 基因 p53 荧光原位杂交 1q21扩增 13Q14缺失 

分 类 号：R446.6[医药卫生—诊断学]