A study of somatic mutations in cerebellar neurons finds that the

coding sequences of genes have an average of 0.4 somatic mutations

per million base pairs, but the intergenic sequences have an average
of 1.3 somatic mutations per million base pairs.
What mechanism could most plausibly explain this difference in
somatic mutations?

Option: Transcription-coupled nucleotide exision repair, natural

selection (purifying selection) pyrimidine dimer formation, illegitimate
crossing over

Correct Answer: Transcription-coupled nucleotide excision repair

Reasoning: Can see that genes have less mutations then intergenic
sequences -

2. One of Snow White’s dwarves got his genome sequenced. One

result was the following abnormality:
AGGTTCGAG AGGTCGAG
The mutation is in the 3rd exon of a 16-exon gene coding for a growth
factor receptor. How can you best characterize this mutation?

Options: Missense, Nonsense, Gain of Function, Frameshift

Correct Answer: Frameshift

Reasoning:

Shows deletion: Frameshift is a change due to insertion or a deletion

that is not in a multiple of 3 – changes reading frame.. Thymine is
deleted

3. Alcohol is metabolized by the following reactions:

Alcohol → Acetaldehyde → Acetic acid
The second reaction is catalyzed by the mitochondrial enzyme
aldehyde dehydrogenase. Many East Asians have a point mutation in
the gene for the aldehyde dehydrogenase that inactivates the
enzyme. The enzyme functions as a homotetramer, and even the
presence of a single mutated subunit makes the tetrameric complex
inactive. As a result, even the heterozygotes have such low enzyme
activity that they are intolerant of alcohol because acetaldehyde
accumulates. How can you best characterize this mutation?

Gain of Function, Loss of Function, Haploinsufficiency (you still have

half of normal gene product therefore half of normal enzyme activity),
Dominant negative (would have way less enzyme activity or not at all)

Correct Answer: Dominant negative

Reasoning: The entire population has it, can see it in heterozygous

people – therefore Dominant. And since it’s a loss of function it
becomes negatie.

4. Some people are born with a homozygous mutation that prevents

transcription-coupled nucleotide excision repair. What cells are most
seriously affected by this mutation?
Neuron, Glial Cells, fibroblast, stem cells
Correct Answer: Neurons

Reasoning: Transcription coupled repair -> therefore ones

actively undergoing transcription
Nucleotide excision repair, SER + disease slide

5. When sequences from homologous chromosomes obtained from

two different persons are compared, about 1 in 1000 base pairs are
different between them in non-coding parts of the genome. In coding
regions, only 1 in 2500 bases are different.
What is the most plausible reason for this difference?

Options: Transcription coupled nucleotide excision repair, natural

selection(purifying selection), pyrimidine dimer formation, homologous
repair
Correct Answer: Natural selection (purifying selection)

Reasoning: The mutation within a coding sequence is most likely to

be deleterious during reproduction – therefore less produced.
Because of that people who produce fewer young are less fit.
Therefore, less common on passing on that gene. Can see that it is
getting more accurate

6. A young child is seen with scaly skin and regions of missing hair on
the scalp. The child appears to be developmentally delayed
intellectually. The parents do not appear to have similar
symptoms. Which repair mechanism is most likely faulty?

Base excision repair, nucleotide excision repair, non-homologous end

joining, single strand break

Correct Answer: Nucleotide excision repair

Nucleotide excision repair, TTD trichothiodystrophy

7. According to one rule of thumb, each base pair in the genome has a
1 : 5 billion chance of getting mutated in a single round of DNA
replication. For methylated G-C base pairs, the chance is 1 : 500
million. What chemical reaction is most likely responsible for this
difference?

Alkylation, intercalation, Deamination, tautomeric shifts

Correct Answer: Deamination

Reasoning: deamination involves G-C bonds. The difference is in the

repair mechanism. In case of cytosine -> becomes uracil. In dna repair
it gets recognized and therefore easily repair because suppose to be
in DNA. In terms of methyl-cytosine (becomes methylated when it is
inactivated for a long period of time) > becomes thymine which is a
regular base pair and therefore way harder for it to pick up.
8. A large study was performed in which the effect of parental age on
educational attainment was investigated. The hypothesis was that
increased paternal age decreases educational attainment when all
other covariates are controlled. What kind of education-reducing
genetic effect did the researchers postulate?

Correct Answer: New mutations with dominant expression

Parental Age Effect -> ppt slide

9. Some people are born with a heterozygous mutation in a gene that

codes for a mismatch repair protein, leading to a non-functional gene
product. What cells are most seriously affected when this mutation is
rendered homozygous by a somatic mutation?

Correct Answer: Stem cells

Cells with the longest lineage among them will be the most effected ->
eg: Lynch syndrome

10. Benzpyrene is a polycyclic hydrocarbon that is present in cigarette

smoke. It can cause mutations by intercalating between base pairs of
DNA. However, it can also cause mutations by being converted to a
chemically reactive product by an enzyme in the lungs. When this
happens, the molecule attaches itself covalently to bases in the DNA.
How can this kind of damage be repaired?

Correct Answer: Nucleotide excision repair

Reasoning: attach to the bases therefore nucleotide exision

repair -> Nucleotide Exision Repair Slide

11. A laboratory that specializes in testing for genetic diseases has a

fibroblast culture from a patient with xeroderma pigmentosum (XP).
When the laboratory receives a skin biopsy from a new XP patient, the
technician fuses a cell from the first patient with a cell from the new
patient, thus establishing a culture of tetraploid hybrid cells. When he
exposes these hybrid cells to a dose of UV radiation that kills the
original diploid cells from the patients, the hybrid cells survive. What
can you conclude?
The new patient cannot have XP, both patients have mutaitons in the
same gene, in this case, the mode of the inheritance is dominant, the
pt have mutations in different genes

Correct Answer: The patients have mutations in different genes

Reasonig: if they both had the same mutation both would die