Genetic map Physical map (open reading frames – gene sequences)

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.) In vitro

First, conceptual basis of the connection between mutation (Gene, or DNA change), and phenotype Mutation

One gene – one gene product (here a protein) gtg cat ctg act cct gag gag From gene to gene product function, from mutation to phenotype

gtg cat ctg act cct gag gag gtg cat ctg act cct g t g gag MUTANT –Sickle cell anemia gtg cat ctg act cct g t g gag From gene to gene product function, from mutation to phenotype

wild type Hemoglobin-S sickle cell

From gene to gene product function, from mutation to phenotype

gtg cat ctg act cct gag gag gtg cat ctg act cct gug gag MUTANT –Sickle cell anemia gtg cat ctg act cct gug gag From gene to gene product function, from mutation to phenotype Simple (even spontaneous) changes, huge consequences – how to find them?

Screening for mutations Finding the very rare cases where NEW ALLELES arise

+-+- Screening For Mutations

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Types of mutations