摘要
目的研究p16基因突变与微卫星不稳定性(Microsatellite instability MSI)在非霍奇金淋巴瘤(NonHodgkin’s lymphoma NHL)发生发展中的作用,探讨p16基因内外显子1、2(exon1、exon2)的分子遗传学改变与非霍奇金淋巴瘤的关系。方法采用PCR-SSCP法对40例已确诊NHL进行p16基因外显子1、2的突变研究;选取p16基因内部微卫星位点D9S265,D9S259,D9S161,D9S169对MSI进行检测。结果 40例NHL中,P16基因总突变率为35.0%(14/40),位点D9S161、D9S259的MSI组的P16的突变率明显高于MSI阴性组,而D9S265和D9S169则与之相反(P>0.05),D9S259、D9S161、D9S265外显子2的突变和缺失率均高于外显子1。结论①NHL中存在较高p16基因突变率和MSI,提示其突变和MSI可能参与NHL的发生、发展;②通过统计分析,微卫星位点的MSI主要影响p16基因外显子2的突变和缺失;③微卫星位点D9S161和D9S169与p16基因的关系较紧密。
Objective To evaluate the role pathogenesis of non - Hodgkins lymphomas of p16 gene mutation and microsatellite instability（MSI） in （NHL） ,Discussion within the p16 gene exon- 1, exon 2 changes in molecular genetics and non - Hodgkin＇ s Lymphoma relations. Methods 40 cases of Non - Hodgkin ＇ s lymphoma have been confirmed for frequency of p16 gene mutation in exon 1 to 2 with PCR - SSCP method ; four microsatellite locus （ D9S265, D9S259, D9S161, D9S169） whithin the p16 gene were used for analyzing MSI in all cases. Results In 40 cases of Non - HodgKin＇ s lymphoma, the fre- quency of p16 genic mutation was 35% （14/40）. Compared with the negative group, both D9S161 and D9S259 positive of MSI had a higher point mutation in p16 gene, while the other two loci were on the contrary （P 〉 0.05 ）. Mutation and deletion of D9S259, D9S161, D9S265 exon 2 were higher than the exon - 1. Conclusion ① High mutation rate of P16 gene and MSI existed in non - HodgKin Lympho- mas, it was shown that mutation in p16 gene and MSI might play a key role in the non - Hodgkin LLym- phomas. ②Through statistical analysis, MSI in the four loci were mainly influenced by mutation and de- letion of p16 gene exon 2. ③ It could be concluded that the relationship between p16 gene and D9S161, D9S169 were closely related.
出处
《遵义医学院学报》
2013年第5期417-421,共5页
Journal of Zunyi Medical University
基金
国家自然科学基金资助项目(NO:30160030)
