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 . 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. Mutations. Hollywood’s images of . 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. 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. Mutations are changes in the genetic material. . Mutations may be genetic mutations or chromosomal mutations.. Genetic Mutations occur in the “code” on DNA or mRNA. Mistakes in . copying the DNA :. Structure dictates function . Prokaryotic transcription is simpler. DNA exists in one chromosome . Less non-coding sequence. RNA polymerase binds the promoter directly. Genes are clustered into functional groups called operons. 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 . 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 . 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. 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. 14/12/2021. overview. My focus is on teaching you . concepts. you don’t get yet. We’ll be skipping rote learning content (make sure you cover them though!). Phenotypic. Variability. Genetic . Testing. KEY CONCEPT:. . Mutations. are changes in genetic material.. VOCABULARY:. Mutation, point mutation, . frameshift. mutation, polyploidy. Mutations – extension from gene expression. . Changes in genotype. 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. 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 .