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3 CLASP & Transition Block > Genetics > Flashcards

Flashcards in Genetics Deck (13):
1

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

framework for treatment of genetic diseases

2

what is codon redundancy?

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

3

NGS is better than sanger sequencing because...

allows sequencing of a much larger number of genes

4

what does aCGH detect?

deletions
UNbalanced translocations
duplications

5

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

F, isnt always

6

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

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

7

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

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

8

what characteristic of a cancer cell changes its phenotype?

genomic instability

9

a synonymous mutation tends to be benign/malignant

benign

10

carrier risk of CF if your sibling is affected?

2/3

11

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

1 in 150
2/3 x 1/25 x 1/4

12

what drug works for G551D CF patients

ivecaftor

13

how does ivecaftor improve CF

improves ion channel opening