Chromosomes 3

Question 1

What is the main cause and main consequence of SNPs

Answer 1

Cause- mistake in DNA replication/ mutagen exposure

Consequence- usually nothing

Question 2

What is the main cause and main consequence of DIPS

Answer 2

Cause - Mistakes in DNA replication + repair

Consequences- If in a protein coding region, loss of protein

Question 3

What is the main cause and main consequence of SSRs

Answer 3

Cause- VERY rare spontaneous event, multiplying rapidly

Consequences- If within a protein can lead to disease (Huntington’s disease)

Question 4

What is the main cause and main consequence of CNV

Answer 4

Cause- unequal crossing during Meiosis I

Consequence- Phenotypes can vary tremendously

Question 5

Define PAN-genome

Answer 5

Captures the whole genic content of a species

Question 6

Why is finding the PAN- genome important?

Answer 6

Representation
Finding disease and stress modifiers
Human disease-causing or disease-preventative segments might be missed

Question 7

What is the resilience project?

Answer 7

Using the Pan-genome to find resilient humans to identify why people are resistant to diseases

Question 8

In 589,306 individuals how many are resistant?

Answer 8

589,306 individuals = 13 resilient adults

Question 9

COVID is more severe in those with what DNA?

Answer 9

DPP4 – dipeptidyl peptidase 4

Neanderthal variant of DPP4- high probability of severe covid symptoms

Question 10

Name a mutation that is both advantageous and not?

Answer 10

Beta HB mutation which resistances malaria but also increases risk of sickle cell anaemia