摘要目的　研究BCL-6基因突变在B细胞非Hodgkin's淋巴瘤(B-NHL)发病中的作用。方法　联合应用聚合酶链反应-变性梯度凝胶电泳(PCR-DGGE)和DNA测序等技术，对40例B-NHL的两个特殊亚型：弥漫性大细胞性淋巴瘤(DLCL)和滤泡性淋巴瘤(FL)患者BCL-6基因5'非编码区的突变进行检测。结果　在DLCL中BCL-6基因突变率为25.7%，9例阳性病例的突变类型均为碱基替换，其单碱基改变率为(0.56-1.10)×10-2/bp。结论　BCL-6基因5'调控区的改变为高频率、多位点的体细胞突变；本研究为分析中国人DLCL的发病机制和淋巴瘤的辅助诊断提供了一个分子标志。

abstractsObjective　To investigate BCL-6 gene mutations in Chinese populations with B-cell non-Hodgkin's lymphoma. Methods　Polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE) and direct DNA sequencing were used to identify mutations in the 5' noncoding region of the BCL-6 gene in a total of 40 cases of diffuse large-cell lymphoma (DLCL) and follicular lymphoma (FL). Results　Nine cases were found to have base substitutions. The incidence of BCL-6 gene mutation and the frequency of single-base changes were approximately 25.7% and (0.56-1.10)×10-2/bp, respectively. Conclusions　The 5' regulatory region of the BCL-6 gene undergoes frequent somatic hypermutation during lymphomagenesis and the identification of BCL-6 gene hypermutations provides a molecular marker for confirmatory diagnosis of B-NHL.