Gene Mutation
Gene Mutation
Gene Mutation
Nucleotides/Bases may be
added, missing, or
changed
Gene Mutations: 2 Types
Point Mutation Frameshift Mutation
Point Mutation
• One base (A, T, C, or G) is substituted for another
Base pair substitutions- two types
a) Transitions
• Convert a purine-pyrimidine to the other purine-pyrimidine.
• 4 types of transitions; A G and T C
b) Transversions
• Convert a purine-pyrimidine to a pyrimidine-purine.
• 8 types of transversions; A T, G C, A C, and G T
• Case: Sickle-cell anemia
• 3 Possible Consequences:
– nonsense mutations: code for a stop, which can translate the
protein
– missense mutations: code for a different amino acid
– silent mutations: code for the same amino acid
Frameshift Mutation
• One or more bases (A, T, C, or G) are added or deleted
• Prevalence
– 1 in ~3,000 Americans has CF
– 1 in 23 white Americans carries the
mutant allele!
• Symptoms
– Thick mucus in the lungs and digestive track
– Constant lung infections and impaired digestion
Cause of Cystic Fibrosis (CF)
• The “CFTR” gene is mutated
– 3 base pairs are deleted
vs
KEY POINT
Ionizing radiation
breaks
chromosomes and
can cause deletions,
duplications,
inversions, and
translocations
Physical Mutagen: Mutagenesis by
Ultraviolet Irradiation
• Hydrolysis of cytosine to
a hydrate may cause
mis-pairing during
replication
• Cross-linking of
adjacent thymine forms
thymidine dimers,
which block DNA
replication and activate
DNA repair
mechanisms.
Chemical Mutagens
Intercalation of an Acridine Dye
Causes Frameshift Mutations