Genetic Mutations Flashcards
nonsense mutation
premature stop codon
“that’s nonsense, stop it!”
silent mutation
a different codon, but same amino acid
CCA, CCG, CCT, and CCC all code for Glycine
non-conservative mutation
a new amino acid has different biochemical properties than the original
ex. small, polar replaced by large, non-polar AA
“the original function is not conserved”
large-scale deletion*
absent genetic material; likely fatal
potentially reduces methylation of important oncogenes
likely to affect some epigenetic mechanisms
ethidium bromide*
intercalation agent (fits where the nucleotides belong); causes conformational changes that can be oncogenic; becomes fluorescent, useful in DNA electrophoresis
results in deformation of DNA molecule
sickle-cell disease
Glu -> Val
types of mutations
Damage to DNA
- point
- frame shift
- nonsense
- missense (type of point mutation?)
missense mutation
a type of nonsynonymous mutation in which a new amino acid is produced (sickle cell disease)
conservative mutation
relates to protein-level; a change in DNA that results in a similar protein (acidic amino acid replaces an acid amino acid)
“the function of the protein is conserved”
base substitution (transition)
a point mutation that stays purine or pyrimidine
A G (purine) C T (pyrimidine - smaller)
“CT is the smaller, with longer name”
base substitution (transversion)
purine becomes a pyrimidine
results in a mismatch (non-Watson-Crick base pair)
mismatch/mispairing
non-Watson-Crick base pair
A -> C, G
T -> C, G
G -> A, T
C -> A, T
more common with purine + pyrimidine, as opposed to purine + purine or pyrimidine + pyrimidine
translocation
gene swapping between non-homologous chromosomes
a gene on one chromosome is swapped with a gene from a different chromosome
inversion
two genes swap places on the same homologous chromosome
mutagen
something that causes genetic mutations
- endogenous - ROS, produced in mitochondria during OP
- exogeneous - produced outside the body
