13.3 and 13.4 Flashcards
changes to
the bases of DNA or RNA
mutations
Change the DNA →
changes the mRNA
Change the mRNA →
changes the protein
Change protein →
changes trait
mutations are usually
Usually are spontaneous and random
Causes of mutations
Errors in DNA replication or transcription
Caused by environmental factors called mutagens
ex of mutations
Ex UV radiation, x-rays, some chemicals (pollutants,
pesticides, tobacco products & smoke)
Mutations can occur in:
somatic (body) and gametes (sex) cells
(not passed to offspring but does
affect the organism)
somatic (body) cells
(does not affect the organism
but will be passed onto offspring)
gametes AKA sex cells
affect a single gene, nucleotide bases
changed
gene mutations
produce changes in part of a
chromosome, the whole chromosome, or sets of chromosomes
Chromosomal mutations-
affect only 1 gene, usually
happen during replication, can be passed on to every cell that
is produced from it
gene mutations
2 types of gene mutations
point and frameshift
Change or substituting 1 letter for
another in DNA
May or may not change the protein
point mutations
point mutations are
substitutions
frameshift mutations are
(insertions or
deletions)
Adding or deleting 1 letter in DNA
These shift or change the “reading
frame” (the way the ribosome reads
the codons)
Causes big changes to protein
(proteins might not work)
frameshift mutations
CAA and CAT code for same a.a., DOESN’T change the amino acid so does
not change protein, so neutral mutation
Changes only 1 amino acid and sometimes no effect if they still code
for same amino acid called
silent mutations
Changes the codon to a STOP codon
Protein is shorter than usual and might not work
nonsense mutations
Disorders Caused by Point
Nonsense Mutations
Cystic fibrosis
Muscular dystrophy
Mutation that causes a lack of dystrophin, a
protein that keeps muscles intact
Leads to severe muscle weakness
Trouble walking, breathing, swallowing.
Often have a curved spine or difficulty in releasing
muscle tension
Live on average 40 or 50 years
Muscular dystrophy
Chronic lung infections due to buildup of thick
mucus in lungs and pancreas
Cannot be around others with CF
Live on average 40 years
Cystic fibrosis
(substitutions- point mutation) or (insertions and deletions
then called frameshift mutations)
Changes 1 amino acid because by changing 1 base in DNA which changes
the whole protein, if a frameshift mutation it is even worse because it
changes multiple amino acids
misense mutations
Changes every amino acid after the mutation by changing the
“reading frame” of codons, so changes protein
Frameshift Mutations
1 base is added to DNA
addition
1 base is deleted from DNA
deletion
Disorders Caused by
Frameshift Missense Mutations
Sickle Cell Anemia- 1 base
Progeria- substitution
Single base change causes a change in
hemoglobin shape
Sickle cells struggle to move through blood
vessels, leading to anemia (lack of oxygen),
fatigue, frequent pain
sickle cell amenia
Very rare disorder where the protein (progerin)
that slows aging gets easily destroyed. Cells age
very quickly, leading to stiff joints, hair loss, and
strokes.
13 year average life span
Leads to fatal heart complications
progeria
Disorder Caused by
Insertion
Huntington’s Disease
Insertion of a gene multiple times
Protein called Huntingtin carries molecules
outside of the cell
Disease causes destruction in the portion of
the brain that controls movement, emotion
and cognitive ability
Currently no cure
Generally affects those 30-50 years old
(inherited)
Huntington’s disease
Chromosomal Mutations-
deletion, duplication, Inversion-, translocation
1 section or gene of
chromosome deleted
deletion
1 section or gene of
chromosome is doubled
duplication
1 section or
gene(s) breaks off and
reattaches backwards
inversion
1 section
or gene(s) breaks off and
attaches to a NEW
chromosome
translocation