genome integrity

Question 1

what is the function of exonuclease and which disease do you get if there is a mutation here

Answer 1

exonuclease does proofreading; reduction of mis incorporated base pairs done by DNA polymerase. POLE and POLD1 are examples of diseases

Question 2

what is the function of mismatchrepair and which disease can you get

Answer 2

mmr removes a part of the dna and tries to remake it. lynch syndrome can occur.

Question 3

what is Base Exiscion Repair for and which disease can you get

Answer 3

BER is for Depurination or deamination. mutation here is not ready for life

Question 4

what is Nucleutide Excision Repair for and whitch disease can you get

Answer 4

when two or more bases are linked together NER will repair it. xeroderma pigmentosum is example of disease

Question 5

what is double strand break repair (NHEJ/HR) for and which disease can you get

Answer 5

radiation breaks the two strands from eachother, repaired by NHEJ. BRCA1/BRCA2 example from this can cause breast cancer

Question 6

what is TLS for and what disease can you get

Answer 6

TLS is for bypassing replication blocks (like T dimeer) POL n does this for UV damage. a random base will be put in place. Translesion synthesis deficiency (POL n) is an example of a disease. people can not handle the sun verry wel

Question 7

passenger mutations

Answer 7

mutations that have no advantage or disadvantage for the cell

Question 8

driver mutations

Answer 8

give a growth or survival advantage to the cell. these are non silent mutations that happen in functional regions or on cancer genes

Question 9

in smoking you often see a

Answer 9

C to T mutation

(not C to A like said earlier