PPT-Oncogenic   CSF3R  mutations in chronic 

neutrophilic  leukemia and atypical CML N Engl J Med 2013 May 9 3681781 Speaker CR 呂學儒 醫師 Moderator VS 蕭樑材醫師 Definition of CNL and atypical CML Hematology Am Soc . Changes in . DNA. that affect genetic information. Gene Mutations. Point Mutations – changes . in one or a few. nucleotides. Substitution. THE FAT CAT ATE THE RAT. THE FAT HAT ATE THE RAT. Insertion. What Are Mutations?. Mutation: . Changes . in the nucleotide sequence of . DNA. Mutagen: . A physical or chemical agent that changes DNA. Mutation May . occur . in:. somatic cells (body cells): . will not be . http://io9.gizmodo.com/10-unusual-genetic-mutations-in-humans-470843733. Unharmful. Mutations. Mila . Kunis. has complete . heterochromia. . Kate Bosworth has . sectoral. . heterochromia. . Angelina Jolie has central . Growth Factor Receptor (EGFR) mutants and its Clinical Implications. . Jeonghee Cho. Samsung. . Genome Institute. Samsung Medical Center . Outline. Mechanistic insight of . cetuximab. -based EGFR targeted therapy . Point mutations. single base change . silent mutation. no amino acid change. redundancy in code. missense. change amino acid. Changes the final protien. nonsense. change to stop codon. Stopping prematurely . Given a mutation, identify its type. Predict how a mutation will affect a protein.. Mutations. Changes in genetic material (DNA). 2 main types of mutations. Point mutation- change in one or a few nucleotides (letters). The sequence of bases in DNA are like the letters of a coded message or even the letters of a simple alphabet. . If we change the sequence of the letters do we change the nature of the message?. That . Understand how they occur. Analyze the different types of mutations. Understand how mutations affect amino acid sequences and proteins. Objective. Central Dogma. DNA is transcribed into RNA, RNA is translated into proteins. Small-scale mutations. Missense mutations. Nonsense mutations. Silent mutations. Frameshift mutations. Large scale mutations. Causes. Mutagens. The results of mutation. Mutations. Genetic mutations are changes in the DNA sequence, caused by various mechanisms.. Conditional mutations. Point mutations. In . point mutations . the sequence of the DNA has been altered at a single position. Where this change consists of replacing one nucleotide by another, it is known as a . KEY CONCEPT:. . Mutations. are changes in genetic material.. VOCABULARY:. Mutation, point mutation, . frameshift. mutation, polyploidy. Mutations – extension from gene expression. . Changes in genotype. Human Cancer. DNA Oncogenic Viruses. Papillomaviridae/ Polyomaviridae.  . Human papilloma viruses. Cervical . carcinoma. Other . genital tract carcinoma. Anal,. . Vulval. /vaginal,. . Penile,. Esophageal. There are two basic types of mutations:. Gene mutations - mutations that produce changes in a single gene. Chromosomal mutations - mutations that produce changes in whole chromosomes. Gene mutations . mutation. Mutations. Actual Mutations . in fruit flies. What is a mutation?. A mutation is any change in a cell’s DNA. A mutation can occur in an individual gene. - results in a single changed protein.