22 - DNA MUTATIONS Flashcards
what are the different scales of mutations (chromosomal, insertional, point)
what are the different types of base substitution point mutations
what are indels
additions or deletions
what are synonymous mutations
also called silent
change sequence but not the AA
what are nonsynonymous mutations
what are nonsense mutations
what are frameshift mutations
how is a point mutation categorized when it has no effect on gene function
wild type function
what is a loss of function point mutation?
what is a gain of function point mutation?
what is an example of a loss of function mutation that leads to human disease
what is an example of a gain of function mutation that leads to human disease
what are examples of point mutations with a neutral or positive effect
what can mutations in non coding regions disrupt
how can point mutations alter mRNA splicing
what is an example of a synonymous mutation causing a loss of function of a gene
this is quite rare
a kidney cancer patient with mutation in PBRM1 gene had a much worse outcome than other kidney cancer patients without this mutation
this led to the loss of function of BAP1 due to the fact that the exon 11 was skipped, which introduced an incomplete protein
northern vs western blot reminder
what do the different types of mutations lead to in a western/northern blot
what are spontaneous vs induced mutations
what are the origins of spontaneous mutations
how do spontaneous errors during in DNA replication lead to mutations
what is strand slippage and what does it lead to
how do trinucleotide repeat disorders arise
what is an example of such trinucleotide repeat diseases
expanded CAG tracts, which codes for glutamine (Q)
known as polyQ diseases
expanded polyQ tracts lead to abnormal folding, which leads to protein aggregation and neural degeneration
