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 gagFrom 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 gagFrom gene to gene product function, from mutation to phenotypeSimple (even spontaneous) changes, huge consequences – how to find them?

Screening for mutations

• Finding the very rare cases where NEW ALLELES arise

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Screening ForMutations

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Screening ForReversions

Types of mutations

Types of mutations

Types of mutations