PPT-p 53 Missense Mutation

C ancer Outline Disease related to p53 Role and regulation pathway Structure of p53 Missense mutation and consequences E xperiments proposal of p53 missense mutant cancer I Diseases cause by mutated p53. Jesus. Cabral MD. Alejandro Navas. . MD MSc. Enrique . O.. . Graue-. Hernández. . MD MSc. Arturo Ramirez. -. Miranda. . . MD. Beatriz . Buentello. . Ph. D. Juan Carlos . Zenteno. . GENETIC MUTATIONS. MISTAKES IN DNA. A MISTAKE CAN BE:. 1. A point mutation – substitution, addition, or removal of a single DNA base.. 2. A . frameshift. mutation – . a point mutation due to an addition . from the. Technology of the . Future. into. . the. Technology of the . Present. Paul . Ammann. 2015 Mutation Workshop Keynote. Graz, Austria . April 13, 2015. 1. A Poll. How many of you. Agree?. Disagree?. On behalf of the North of England Cancer Network Lung NSSG. Dr Naomi Chamberlin, Dr Ann Ward. Aims. Overview of brief. Method. Contributing Trusts. Results. Discussion. Overview of brief. To gather data on all patients with a diagnosis of non-small cell lung cancer across the Network for whom specimens have been sent for EGFR mutation testing.. Dun . dun. dun!!!!! . Nobody’s perfect all the time . About 1/10 billion base pairs end up with a error or mutation . Mutation: . Mistake in replication or environmental effect that results in a c. Dun . dun. dun!!!!! . Nobody’s perfect all the time . About 1/10 billion base pairs end up with a error or mutation . Mutation: . Mistake in replication or environmental effect that results in a c. Changes in the genetic material. Mutations can occur in two different types of Cells:. 1. Somatic (body) cells. 2. Gamete (sex or germ) cells. Mutations in somatic cells. Usually result in killing that body cell only.. Testing. CS 4501 / 6501 . Software Testing. [. Ammann. and Offutt, “Introduction to Software Testing,” Ch. 9.2]. Applying Syntax-Based Testing to Programs. Test requirements are derived from the syntax of software artifacts. Abdelbagi M. Ali. 1. , 2. , . Izzat. S.A. Tahir. 2. , . Abdalla. M.A.. . Kurmut. 2. ,. . Sufian. M. Suliman. 2. ,. . Nasrein. M.K. Omer. 2. , . Tahani. Y. Elagib. 2. , Pierre Lagoda. 1. and Brian Forster. The types of proteins an organism possesses depend upon the . sequence of nucleotides. The two main types of gene mutations include:. Point mutation: one base pair is replaced for another base pair.. permanent change . in the DNA sequence of a gene. .. . Mutations . in a . gene's DNA sequence. can alter . the amino acid sequence . of the . protein. encoded by the gene.. GOOD BAD NEUTRAL. Beyond the Genome 2012. Informatics Workshop, Sep 27, 2012. Josh Stuart, UC Santa . Cruz. “It . is entirely in line with the accidental nature of mutations that . … . the vast . majority [are] . detrimental. MISTAKES IN DNA. A MISTAKE CAN BE:. 1. A point mutation – substitution, addition, or removal of a single DNA base.. 2. A . frameshift. mutation – . a point mutation due to an addition . or deletion of a DNA base that causes a major change in the genetic code.. Mutation refers to sudden heritable change in the phenotype of an individual. In the molecular term, mutation is defined as the permanent and relatively rare change in the number or sequence of nucleotides. In other words, mutations arise due to change in DNA bases. The change in the nucleotide may involve replacement of one .