Genetics Abnormal Amnio Mutations

Front 1

genome mutation vs chromosome mutation

Back 1

genome - aneuploidy, chromosome missegregation

chromosome - translocation deletion insertion, much less frequent then genome mutations

Front 2

two ways gene mutations can arise

Back 2

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

Front 3

Neurofibromatosis

Back 3

mutation in NF1 gene, nonsense mutation

Front 4

RNA splicing mutation
2 kinds

Back 4

Mutations at splice donor or acceptor sites,

mutations that create an alt donor/acceptor site

Front 5

Taysachs - what kind of mutation causes this?

Back 5

RNA splicing mutation
mutation at the splice site causing no splicing

Front 6

Tay sachs - what gene is effected?

Back 6

hexosaminidase A gene, splice site doesnt work, 4 bp insertion, frameshift

Front 7

name a disease of
Nonhomologous recombination

Back 7

gene deletions in growth hormone family causing a deficiency,

deletion of an alpha globin gene in alpha thalassemia

Front 8

name a disease of chromosome translocation

Back 8

the philadelphia chromosome, leukemia

Front 9

frequency of genome mutation
chromosome mutation
Gene mutation

Back 9

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

Front 10

what is a cryptic site?

Back 10

mutations that create alternative donor or acceptor sites
cryptic splice acceptors (lengthened) and cryptic splice donors(shortened)

Front 11

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

Back 11

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

Front 12

when you have change of function, what three things can happen to the proteins

Back 12

increase expression
increase ability of protein or enzyme
increase half life

Front 13

see page 393

Back 13

kj

Front 14

large deletion
how does it change a S blot, a N blot the prot and function

Back 14

SB - see a change + or -
NB - generally decrease mRNA b/c less stable
no protein unless the deletion was an intron
no function

Front 15

pt mutations or small deletions

SB
NB
prot
funxn

Back 15

SB - no change, unless changes the restriction enz site
NB - no change

Front 16

mutation in promoter/enhancer
sb
nb
prot
function

Back 16

sb - no change
nb - changes nb, decreased mRNA, still likely to be the same size
prot - decrease
funxn, decrease

Front 17

CAP site
POLY A site

Back 17

same as promoter mutation

Front 18

loss of splice site
sb
nb
prot
funx

Back 18

sb - no change
nb - change, bigger
prot - most likely see a truncation due to stop codon, degraded
funxn - decrease

Front 19

splice site, cryptic site
sb
nb

Back 19

sb no change
nb normal/larger or shorter
decrease prot
decrease funxn

Front 20

can you have a missense mutation in an intron?

Back 20

no, splicing, no introns in protein

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