DNA Mutations, Damage, and Repair Mechanisms

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Genetics › DNA Mutations, Damage, and Repair Mechanisms

Questions 1 - 10
1

If a cell senses a harmful mutation and ultimately decides to undergo apoptosis, which signal will the cell release which is a pro-apoptotic factor?

BAX

Bcl-2

Mcl-1

Bcl-xl

Explanation

BAX is pro- apoptotic along with BID. BAK, BAD. Bcl-2, Bcl-XI, Mcl-1 are all anti-apoptotic. This is important in the mitochondrial death pathways.

2

What is the name of the enzyme that unwinds the DNA for replication?

DNA helicase

DNA gyrase

DNA ligase

DNA polymerase I

DNA polymerase II

Explanation

DNA helicase is responsible for breaking bonds between base pairs in the DNA thus unwinding it for replication.

3

Which method of DNA repair is used to correct damages caused by UV Radiation?

nucleotide excision repair

base excision repair

mismatch repair

non-homologous end joint

Explanation

Nucleotide excision repair corrects DNA that turns into pyrimidine dimers. These are usually caused by ultraviolet radiation and result in sizable DNA adducts.

4

Which of the following represents a transition mutation in the following strand?

ATGCTGCAAGTA

ATGCTCCAAGTA

ATGTCGCAAGTA

AGGCTGCAAGTA

ATGTCTGCAAGTA

ATGCTGCCAGTA

Explanation

A transition mutation represents a purine-to-purine mutation or a pyrimidine-to-pyrimidine mutation. This could be a change of A to T, or vice versa. It could also be a change of C to G, or vice versa. Remember, a transition mutation does not insert or delete any bases. It simply changes a base.

5

Xeroderma pigmentosum is a disease where there are 7 mutated genes which were caused by UV damage. Which process of the DNA repair mechanism is defective?

nucleotide excision repair

DNA mismatch repair

homologous recombination repair

genomic instability

Explanation

Nucleotide excision repairs refers to short sequences of DNA being removed and repaired with the undamaged strand. It is usually removing bulky adducts on DNA, mostly thymine dimers which are caused by UV radiation. DNA mismatch repair is fixing a single mismatched DNA. Homologous recombination repair is fixing a double stranded break and using the sister chromosome as a template. These are mostly autosomal recessive disorders. Genomic instability simply refers to the high number of mutation which leads to instabilities in the genome.

6

What term describes the structural abnormalities where one chromosome arm is deleted and there is duplication of the other, resulting in mirror images?

isochromosome

translocation

inversion

ring chromsome

Explanation

Isochromosome is when one arm is deleted and the other arm is copied to make the second arm a copy of the first. Translocation is an even exchange of information between non-homologous chromosomes. Inversion is when a piece of a chromosome switches direction or is reversed. Ring chromosome is when the telomeres are the end of a chromosome are cleaved off and the remaining chromosomal ends join forming a ring.

7

If a cell cannot repair itself, how does it take action to destroy itself?

apoptosis

senescence

it cannot repair itself, leading to cancerous cells

translesion synthesis

Explanation

The correct answer here is apoptosis. All other options are things that can occur to a cell that has been damaged, however, the only option where a cell will abruptly commit suicide is apoptosis. The other options, such as cancerous cells or dormancy do occur.

8

What pair of chromosomes are mutated when a child exhibits down syndrome characteristics?

21

25

18

2

Explanation

The correct answer here is 21. Remember that we can begin by excluding the option that is 25 because there are only 23 pairs of chromosomes in a human being. If you chose any of the other options, remember that down syndrome is also called trisomy 21. This is a syndrome where the 21st pair of chromosomes has a third mutation on it.

9

Methylation and Acetylation are the main components of which non mutation protein change?

epigenetics

single nucleotide polymorphism

copy number variation

non-coding RNA

Explanation

Epigenetic deals with which genes are expressed and which are repressed. Genes are turned on or off via methylation or acetylation of the histone wrapping the DNA. Single nucleotide polymorphism is an inherited single nucleotide change at a specific position of the genome, contributing to risk factors or being a modifier to a disease. Copy number variation are the repeats of sequence in the genome and the number of repeats vary for each individual. Non-coding RNA refers to RNA that is not translated into a protein.

10

Which of the following represents a frameshift mutation to the given template strand?

5'-AGCCTTAGC-3'

5'-AGCGCTTAGC-3'

5'-TGCCTTAGC-3'

5'-AGCCTTAGG-3'

5'-CTTAGC-3'

5'-TTTAGCCTTAGC-3'

Explanation

A frameshift mutation results in a change of the codon reading frame and results from the addition or deletion of a set of nucleotides that is not a multiple of three. If a mutation occurs that is a multiple of three, the reading frame is unchanged and a simple addition or deletion has occurred.

Template: 5'-AGC-CTT-AGC-3'

Frameshift mutant: 5'-AGC-GCT-TAG-C-3'

Point mutant: 5'-TGC-CTT-AGC-3'

Point mutant: 5'-AGC-CTT-AGG-3'

Deletion: 5'-CTT-AGC-3'

Insertion: 5'-TTT-AGC-CTT-AGC-3'

Note that all except the frameshift mutation contain sets of three nucleotides to create triplets. The frameshift leaves a singular, un-grouped cytosine.

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