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 4 0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 2 5 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 ;
ObjectiveTo 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
基金
ThisworkwassupportedbythegrantsfromtheNationalNaturalScienceFoundationofChina (No 3 9770 83 0 )
andDr ClydeFoundation
