PPT-Mutations and the Birth and Death of Genes

Author Ann Brokaw Rocky River High School Ohio About This Activity These slides provide examples of different mutations and their effects on the organism and populations Answer the questions on the student handout when prompted. Indiana Perinatal Quality Improvement Collaborative – Quality Improvement Committee. 11/13/2014. Erica . Park. Nancy . Swigonski. , MD, MPH, FAAP. Kathleen . Frogge. , Program Director 2 . “You . Types . of Mutations | . Effects . of . Mutations. Learning Objectives. Identify different changes to DNA within both genes and chromosomes. Evaluate effects of changes to DNA on proteins produced and organisms’ overall survival. How do . unrealistic expectations . confound the results of our analyses. Case Studies in Bioinformatics. Giovanni Ciriello. giovanni.ciriello@unil.ch. Outline. Fundamentals of Cancer Genomics. Types of genetic alterations in cancer. Mutation. Permanent change in the genetic material of an organism. All mutations in gametes are inheritable because they are copied during DNA replication. Somatic cell mutations occur in body cells. Exome. sequencing identifies the cause of a . Mendelian. disorder.. Nat. Genet. 42, 30–35 (2010).. Cupped ears. coloboma. of the lower eyelids, . prominent . nose, . micrognathia. . absence . of the fifth digits of the feet. Indiana Perinatal Quality Improvement Collaborative – Quality Improvement Committee. 11/13/2014. Erica . Park. Nancy . Swigonski. , MD, MPH, FAAP. Kathleen . Frogge. , Program Director 2 . “You . and How the Health Sector . Contribution on . CRVS. in . Lao PDR . Dr.. . Founkham. . Rattanavong. , Deputy Director General of Planning and Cooperation Department, MOH, Lao PDR, 13-17/17, Hanoi.. MOH’s . 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.. “This . proposed research will leverage existing population, laboratory and computational resources to identify susceptibility . genes . underlying selected well-replicated GWAS findings for heart, lung and blood diseases and their risk . Laboratory of Personalized Genomic Medicine . Peter L. Nagy M.D., Ph.D. Assistant Professor. Associate Director, Laboratory of Personalized Genomic Medicine. Department of Pathology and Cell Biology. Cells. The basic building blocks of who we are. We are made up of trillions of them. They provide for our bodies structure, help with nutrition and convert nutrition to energy. Cells have many different functions and duties they carry out for the body including carrying our genes and hereditary duties. RNA is made of a long chain of nucleotides.. Differences between DNA and RNA:. 1 – the sugar on RNA is ribose instead of deoxyribose. 2 – RNA is generally single-stranded. 3 – RNA contains uracil in place of thymine. REVIEWS NATURE REVIEWS GENETICS VOLUME 7 AUGUST 2006 Male heterogamety which males carry two heteromorphic sex chromosomes (such as X and Y) and females carry two copies of the same chromosome ( Material Didáctico. A scientific project led by citizens.. a) . What is a citizen science project?. A scientific project carried out in a city.. b) . A scientific project requested by citizens.. c) .