PPT-Two novel FHL1 gene mutations extending the phenotypic

spectrum Ref OMIM 300163 Strehle EM Johnson K Rakocevic Stojanovic V Peric S Milenkovic S Farrugia ME Longman C Straub V Introduction The FHL1 gene encodes the Four and a half LIM domains protein 1 LIM domains were first identified in the . Bases:. A, T, C, G. Codons:. Genes:. Chromosome:. DNA. Words. Chapters. Book. Not passed on to offspring. Can be passed on to offspring. M. ito. sis. M. eio. sis. Mutations. in Cell Division. A single gene. phenome. as a tool for . exploring disease. Melissa Haendel. Febrary. 20, . 2014. Phenotype Research Coordination Network . Annual meeting. Candidate gene prioritization. . B6.Cg-Alms1. foz/fox. /J. Jess . Shumake. and Melissa . Bergeman. . CRWP, Douglas 2016. © Marco . Pece’s. “the wall” via . f. lickr.com. Metaphorical Thinking about Extension . Select What You Want to Extend (No more than 4 per group and no fewer than 3). 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 . 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 . 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.. . Intra-locus Interactions. PBG 430. Single locus. Allele A. Allele a. Phenotype. Allelic relationships at a locus: . Complete . D. ominance. Heterozygote . phenotype = homozygous dominant . Main idea: Gene expression is regulated by the cell, and mutations can affect this expression. Gene Regulation . Cells have the ability to control which genes are transcribed and when they are transcribed. Can the letters of any word be rearranged to form another word in English? Give examples. . If you rearranged the letters at random, is it likely that you would form another English word? Explain your answer. . What if it’s NOT just the number?. Gene Mutations. Damaged Chromosomes . –. sometimes a portion of a gene or chromosome is lost or damaged during meiosis. Gene mutation. – a mutation that affects the gene. Science. Learning intention. To understand the different types of mutations. . You will need. A pen and a piece of paper or a laptop to record your answers. . You may need the internet to search for answers. . 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.. mutation. Mutations. Ectrodactyly. Progeria. Hypertrichosis. Severe Combined Immunodeficiency Disorder (SCID). Sickle Cell Anemia. Heterochromia. iridium. What is a mutation?. @A . mutation is any change in a cell’s .