多发性骨髓瘤患者p16基因结构改变及启动子区甲基化的研究

Study on structure change and hypermethylation of p16 gene in multiple myeloma

目的 探讨p16基因结构及启动子区CPG岛甲基化在多发性骨髓瘤 (MM)发病中的作用。方法 利用PCR 单链构象多态性、甲基化特异性PCR(MSP)技术研究骨髓瘤细胞株U2 66、LP1、KM3及MM患者p16基因结构改变及启动子区CPG岛甲基化状态。结果 KM3细胞株为p16基因外显子 2的同源缺失 ;U2 66、LP1细胞株及 5 5 .5 6%MM患者的p16基因启动子区存在CPG岛甲基化现象 ,p16基因甲基化与MM分期无关 (P >0 .0 5 )。结论 p16基因甲基化在MM中较为常见 ,这可能为MM的治疗提供借鉴。

Objective To illustrate the role of structure and hypermethylation of p16 gene in the path oge-nesis of multiple myeloma(MM). Methods By using PCR-single strand conformation polymorphisms(PCR-SSCP) and methylation-specific PCR(MSP) techniques, the structure and hypermethylation status of p16 gene in MM cell lin es and patients were analysed. Results Homozygous deletion of p16 exon 2 was found in KM_3 cells. The completely methylated p16 gene and hyperme thylation of CPG island were observed in U266, LP1 cell lines and 55.56% of MM patients. Conclusion Methylation of p16 gene is important in the pathogenesis of MM and may provide a new drug target for the treatment of MM.