nf1tumorsuppressorgene：nf1腫瘤抑制基因(參考版)
2025-01-15 08:36本頁面
【正文】 aulait spots Freckles? underarm or groin Greater than or equal to 2 neurofibromas, or 1 plexiform neurofibroma Iris Lisch nodules identified by ophthalmologist Tumor of optic nerve called optic pathway glioma (in astrocytes) Bone deformities (. around eye, tibia) First degree relative (parent, sibling, or child) 4 Neurofibromatosis Type I ? Affects peripheral nerves brain, and spinal cord ? More active as get older ? In adolescence, also find learning disabilities in reading, math, trouble following directions, and paying attention ? All racial and ethnic backgrounds ? Symptoms vary person to person European Geics Foundation y04/ 5 NF1 Gene ? NF1 is a tumor suppressor gene ? NF1 is located on Chromosome 17 long arm NF2 on other hand is located on Chromosome 22 ? NF1 gene encodes the protein Neurofibromin 6 NF1 Gene ? Cloned in 1990 ? Over 300kb of genomic DNA, 50 exons ? Very large and plicated, and geic changes can be very small and subtle ? A missense mutation in GAPRelated Domain is one way NF1 is inactivated usually a mutation that causes a charge inversion。1 NF1: Tumor Suppressor Gene Presentation by Hana Masood 2 Overview of Presentation ? Disease – Neurofibromatosis Type I ? NF1 Gene ? Protein Neurofibromin ? Protein Function – RasGAP ? Biological Role – Active in Ras Pathway ? NF1 gene and Neurofibromin Role in Cancer 3 Neurofibromatosis Type I ? Among most mon neurogeic disorders It is heritable。 all affected members of family have same form of NF ? Affects 1 in 3,500 Whereas NF2 affects only 1 in 40,000 ? Diagnosis based on any 2 of the following clinical criteria: Greater than or equal to 6 caf233。 mostly change from Lysine to something like Glutamine in protein ~anat/ NF/Neurofibromin/ Scheffzek et al, The Embo Journal, 1998, Vol. 17 7 NF1 Gene Inactivation (Loss of Function) ? 50% of cases inherited from parent, other 50% of cases start out as a new NF1 mutation
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