Transcript Slide 1

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
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Types of mutations
Types of mutations
Types of mutations