Gene Mutations Flashcards
base substitutions
- transitions (A changes to T) (G changes to C)
- transversions (A changes to G) (G changes to T)
point mutations
molecular changes to the DNA sequence
gene mutations
loss or removal of nucleotides
deletions
addition of nucleotides
insertions
mutations can alter function of DNA
-promoters, enchancers, terminators, boxes, element could be rendered _____________
dysfunctional
mutations can alter function of RNA
- changes in primary structure lead to changes in ____________ _______
- __________ removal via splicing may not occur
secondary structure
introns
mutations can alter function of proteins
- ________ ______ sequences can be altered
- affect secondary- tertiary structure, __________ ________
active sites
don’t alter RNA or protein secondary structure
silent mutations
amino acid changes during coding mutations affecting expression
missense mutations
coding region mutations affect expression.. changes stop codon or inserts a stop codon
nonsense mutations
coding region mutations that affect expression and changes reading frame, typically due to indel
frameshift mutations
________ _____ allele due to coding region point mutation
sickle cell
promoter mutation that results in up or down regulation
up/down promoter mutations
may alter translation of mRNA
5’/3’ untranslated region mutations
may affect gene regulation
regulatory element/operator mutations
may affect proper splicing of pre-mRNA
splice recognition site mutation
NEUTRAL mutations:
neutral vs selected
can be dependent upon ____________, no change in functions
environment
mutation causes mutant to become wild type
reversion
decreases fitness
deleterious mutation
enhances fitness
beneficial mutation
mutant phenotype expressed in some, but not all situations
conditional mutants
translocation to heterochromatic chromosome
position effect
changes in DNA structure due to bio molecular processes
spontaneous mutations
causes by environmental agents
induced mutations
