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20 Cards in this Set

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genome mutation vs chromosome mutation
genome - aneuploidy, chromosome missegregation

chromosome - translocation deletion insertion, much less frequent then genome mutations
two ways gene mutations can arise
errors in normal dna processing

and

mutagens - increase rate of mutation by as much as 1000 fold, usually the mutation is not fixed unlike replication errors
Neurofibromatosis
mutation in NF1 gene, nonsense mutation
RNA splicing mutation
2 kinds
Mutations at splice donor or acceptor sites,

mutations that create an alt donor/acceptor site
Taysachs - what kind of mutation causes this?
RNA splicing mutation
mutation at the splice site causing no splicing
Tay sachs - what gene is effected?
hexosaminidase A gene, splice site doesnt work, 4 bp insertion, frameshift
name a disease of
Nonhomologous recombination
gene deletions in growth hormone family causing a deficiency,

deletion of an alpha globin gene in alpha thalassemia
name a disease of chromosome translocation
the philadelphia chromosome, leukemia
frequency of genome mutation
chromosome mutation
Gene mutation
genome - 10^-2 per cell division
chromosome - 6 X 10^-4 per cell division
Gene mutation - 10^-10 base pair mutation per cell division
10^-6 locus mutations per generation
what is a cryptic site?
mutations that create alternative donor or acceptor sites
cryptic splice acceptors (lengthened) and cryptic splice donors(shortened)
for each list whether the mutation is in a coding region or a noncoding region, and how many repeats are needed for mutation

huntingtons
kennedy
fragile X
myotonic dystropy
Huntingtons - coding CAG, 37-100 for mutation

KEnnedy disease - coding CAG 40-55 for mutation

Fragile X - 5'UTR CGG, 200-1000

Myotonic dystrophy - 3'UTR CTG, 50-4000
when you have change of function, what three things can happen to the proteins
increase expression
increase ability of protein or enzyme
increase half life
see page 393
kj
large deletion
how does it change a S blot, a N blot the prot and function
SB - see a change + or -
NB - generally decrease mRNA b/c less stable
no protein unless the deletion was an intron
no function
pt mutations or small deletions

SB
NB
prot
funxn
SB - no change, unless changes the restriction enz site
NB - no change
mutation in promoter/enhancer
sb
nb
prot
function
sb - no change
nb - changes nb, decreased mRNA, still likely to be the same size
prot - decrease
funxn, decrease
CAP site
POLY A site
same as promoter mutation
loss of splice site
sb
nb
prot
funx
sb - no change
nb - change, bigger
prot - most likely see a truncation due to stop codon, degraded
funxn - decrease
splice site, cryptic site
sb
nb
sb no change
nb normal/larger or shorter
decrease prot
decrease funxn
can you have a missense mutation in an intron?
no, splicing, no introns in protein

missense nonsense silent and frameshift can only be seen in coding regions (not UTR's either)