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MUTATIONS AND GENETIC CODE
Mutation
✓ The term mutation refers to a
heritable change in the genetic
material
✓ Mutations provide allelic variations
✓ Required for evolutionary changes
✓ Are causes for many genetic
diseases
MUTATIONS AND GENETIC CODE
Mutation

Gene Mutation Chromosome Mutation

✓ Changes in the DNA sequence that ✓ Mutational events that affect the entire
take place within individual genes. chromosome or large pieces of the chromosome.
 MUTATIONS AND GENETIC CODE
Mutation Types

Somatic mutations Germ-line mutations

✓ Somatic mutations affect only the individual ✓ Germ-line mutations alter gametes, affecting the
in which they arise. next generation.
MUTATIONS AND GENETIC CODE
Mutation

✓ Mutations in the coding sequence of a

structural gene can have various
effects on the polypeptide
Point Mutations
✓ A point mutation is a change in a single
nucleotide in DNA.
✓ Point mutations can be silent,
missense, or nonsense mutations,
MUTATIONS AND GENETIC CODE
Silent Mutations
✓ Are those base substitutions that do not alter the amino acid sequence of the
polypeptide
✓ Due to the degeneracy of the genetic code
MUTATIONS AND GENETIC CODE
Missense Mutation
✓ Missense mutations are those base substitutions in which an amino acid change
does occur
✓ Hemoglobin in sickle-cell anemia
MUTATIONS AND GENETIC CODE
Nonsense Mutation
✓ Nonsense mutations are those base substitutions that change a normal
codon to a termination codon
MUTATIONS AND GENETIC CODE
Frameshift Mutations
✓ A frameshift mutation is a deletion or insertion of one or more nucleotides that
changes the reading frame of the base sequence.
✓ Deletions remove nucleotides, and insertions add nucleotides.