(not Wrong) Basic Sciences

Question 1

Brief description of how ketone bodies are formed

Answer 1

Abundance of acetyl coA due to b oxidation. Used during fasting for brain.

Question 2

Where does ketone body formation occur

Answer 2

Liver

Question 3

Rate limiting step of ketone body formation

Answer 3

HMG CoA synthase (conversion of 2acetyl coa to HMG CoA)

Question 4

What is HMG CoA in mitochondria regulated by

Answer 4

FOXA2 which is affected by glucagon which stimulates it and insulin inhibits

Question 5

What disease is shown + karyotype

Answer 5

Edwards syndrome

47 XY + 18 (trisomy 18)

Question 6

What disease is shown + karyotype

Answer 6

Downs

47 XY + 21

Question 7

Pros cons of array CGH

Answer 7

1st line for genomic testing

Pros- cheaper, quicker, more sensitive

Cons- does not detect balanced rearrangements, detects polymorphisms

Question 8

HER2 is a

Answer 8

Breast cancer oncogene

Question 9

Next generation sequencing vs PCR

Answer 9

NGS- cheaper, larger amount of DNA can be processed, processes multiple sequences simultaneously. (Amplifies genome or exome)

Question 10

Genetics lab techniques, overview (4)

Answer 10

(missing NGS)

Question 11

What is the reason for ketone bodies forming

Answer 11

Lack of oxaloacetate for acetyl coA to bind to in TCA. (Starvation)
Therefore used for ketosis.