Genetics

Question 1

why is the central dogma (DNA synthesis) important to know about?

Answer 1

framework for treatment of genetic diseases

Question 2

what is codon redundancy?

Answer 2

different codons can cause the same amino acid so if you have a mutation in a base its not likely to cause a mutation

Question 3

NGS is better than sanger sequencing because…

Answer 3

allows sequencing of a much larger number of genes

Question 4

what does aCGH detect?

Answer 4

deletions
UNbalanced translocations
duplications

Question 5

a change in the amino acid sequence is always pathogenic T or F

Answer 5

F, isnt always

Question 6

de novo mutations are highly likely to be pathogenic T or F

Answer 6

T (40% of childhood genetic disease is de novo)

Question 7

worst location for mutations and worst type? why is this?

Answer 7

a deletion in the 3rd exon (will cause a frameshift)

Question 8

what characteristic of a cancer cell changes its phenotype?

Answer 8

genomic instability

Question 9

a synonymous mutation tends to be benign/malignant

Answer 9

benign

Question 10

carrier risk of CF if your sibling is affected?

Answer 10

2/3

Question 11

risk of CF in a child with a carrier mum and normal risk dad

Answer 11

1 in 150

2/3 x 1/25 x 1/4

Question 12

what drug works for G551D CF patients

Answer 12

ivecaftor

Question 13

how does ivecaftor improve CF

Answer 13

improves ion channel opening