Si-1基因中一个多态位点的初步分析

Initial study on a SNP site of Si-1 gene

摘要: 通过PCR-RFLP技术分析了Si-1基因的外显子在肿瘤样本与正常人群外周血液样本的突变情况,初步确定了Si-1基因的第15号外显子的第56位发生点突变,突变类型为C—T的置换突变,其编码的P(脯氨酸)变化为S(丝氨酸).在正常人群外周血液样本中的突变频率为14%,而在肿瘤中的突变频率为24.7%,尤其在肠癌中的突变频率高达51.5%.上述结果表明Si-1基因的外显子的突变与肿瘤间有一定关系.

Abstract: In this study,Si-1 gene from the various types of tumors and the normal blood sample was analyzed by using PCR-RFLP method.A SNP site in the NO.15 extron was found.The site lie at No.56 base,and the mutation mode is C-T,which can change the protein sequence from Pro to Ser.The mutation analysis results showed that the mutation rate is 14% in the normal blood sample,but 24.7% in the tumors.Moreover,it was very high up to 51.5% in the intestinal cancer.In conclusion,there exists a significant relationship between the mutation frequency at No.56 site of 15 extron of Si-1 and the tumor incidence.