Lecture 02: Mutations Flashcards
what is mutation?
changes in the sequence of the DNA
in eukaryotes, mutations can occur in: ________ and _________
somatic and germline cells
types of mutation
- according to size
- effect on gene function
- effect on DNA
- effect on protein
- direction
what are the types of mutation according to size?
- point
- segmental
types of mutation that has an effect on gene function
- loss of function
- gain of function
type of mutation that has an effect on DNA
- structural
- spatial
what is structural mutation?
change in nucleotide content
different DNA structural mutation
- substitution
- deletion
- insertion
types of substitution mutation
- transition
- transversion
which type of substitution mutation is more usual in nature?
transition
types of DNA spatial mutation
- inversion
- translocation
it is the inability to clot blood
Hemophilia
in what clotting factor are Hemophilia A and B deficient in?
VIII and IX respectively
types of mutations that have an effect on protein
- silent
- nonsense
- missense
- neutral
- frameshift
what is nonsense protein mutation?
normal codon to a stop codon
what is missense protein mutation?
change in amino acid that changes protein function
sickle cell anemia is what type of mutation?
missense mutation; Glu to Val
types of mutations based on direction
- forward
- reverse
what are the origins of mutation?
- spontaneous
- error-prone replication bypass
- errors in DNA repair
- induced
what is spontaneous origin of mutation?
mutation due to molecular decay
types of spontaneous origin of mutation
- tautomerism
- depurination
- deamination
- slipped strand mispairing
what is tautomerism?
base change due to repositioning of H
what is depurination?
hydrolysis of a purine (A or G)
what is deamination?
removal of amine group in C or A, resulting in U or hypoxanthine, respectively
