Detection of hMSH2 gene mutations in gynecologic tumor population by multiple PCR-SSCP / 中国癌症杂志

ABSTRACT

Purpose:To set up a new method to screen hMSH2 gene mutations, to detect hMSH2 gene mutations in gynecologic tumor population and to find molecular biomarkers of tumor. Methods:The basic data and blood samples from 42 gynecologic tumor patients werre collected. The genetic mutations of the sixth exon and seventh exon of hMSH2 gene were investigated by multiple polymerase chain reaction single strand conformation polymorphism (PCR SSCP),followed by DNA sequencing. Results:The successes in setting up the multiple PCR SSCP method made it possible to detect hMSH2 gene mutations more quickly and more economically. Two samples of the seventh exon mutation was detected in the tumor population. The mutation is Leu→Phe missense mutation. No mutation of the sixth exon was detected by SSCP.Conclusions:The multiple PCR SSCP method is effective in detecting genetic mutations. There is a mutation site in the seventh exon of hMSH2 gene. It is probably a biomarker of gynecologic tumor. This discovery might offer the basis for further investigation of mutations in large amount population and studies of the function of the mutation.