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Genetic map Physical map (open reading frames – gene sequences) In vitro NOT like above, where the DNA must recombine and replace the endogenous copy, BUT where the DNA is extrachromosomal and persists as an episome (plasmid, F’, etc.) Mutation First, conceptual basis of the connection between mutation (Gene, or DNA change), and phenotype One gene – one gene product (here a protein) From gene to gene product function, from mutation to phenotype gtg cat ctg act cct gag gag gtg cat ctg act cct gag gag From gene to gene product function, from mutation to phenotype gtg cat ctg act cct MUTANT –Sickle cell anemia gtg gag wild type Hemoglobin-S sickle cell From gene to gene product function, from mutation to phenotype gtg cat ctg act cct gag gag Simple changes, huge consequences – how to find them? From(even genespontaneous) to gene product function, from mutation to phenotype gtg cat ctg act cct MUTANT –Sickle cell anemia gug gag Screening for mutations • Finding the very rare cases where NEW ALLELES arise Screening For Mutations + - Screening For Reversions ad- ad+ Types of mutations Types of mutations Types of mutations