Detection of nf1 gene 3'End UTR region mutations by rt-pcr sscp

It has been shown that von Recklinghausen Neurofibromatosis is caused by interaction of NF1 gene product (Neurofibromin) with p21 ras proteins among GTPase family Neurofibromin has sequence homology with GAP (GTPase Activating Proteins) and they both has function in signal transduction by Ras Pathwa. Ras-GAP transduces proliferative signal while way neurofibromin putatively produces differentiation signal. Lack of neurofibromin expression in Shawannomas of NF1 patient causes increase in the potential ras neoplastic activity by negative ras regulation. In our study, we aimed to detect 45-48 exon mutations of NF1 gene downstream 3' end. We used SSCP technique due to the reason that it has high accuracy in detecting point mutations. Again we prefered sensitive Silver Staining because of its ow cost and simlicity to using radioactivity in our polyacrilamide gels. Normal, 3 NF1 leucocyte and 7 colon tumours were studied by RT-PCR SSCP and we only detected one mutatnt NF1.