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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 ;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
Objective To investigate the role of BCL 6 gene mutation in the pathogenesis of B cell non-Hodgkin’s lymphoma (B NHL). METHODS: Two special subtypes of 40 NHL patients, diffuse large cell lymphoma (DLCL) and follicular lymph nodes Mutations in the 5 ’non-coding region of the BCL 6 gene in patients with tumor (FL) were examined. Results The mutation rate of BCL 6 gene in DLCL was 25.7%. The mutation types of 9 cases were all base substitutions. The single base mutation rate was (0 56-1 10) × 10 2 / bp. Conclusion The change of 5 ’regulatory region of BCL 6 gene is a high-frequency, multi-site somatic mutation. This study provides a molecular marker for the analysis of the pathogenesis of DLCL in Chinese and the auxiliary diagnosis of lymphoma