Genetics Flashcards
1
Q
Which genetic tests are targeted?
A
Point mutation testing
FISH
Fluorescent PCR
2
Q
What does aCGH look for?
A
for deletions/duplications
Chromosome/Karyotype analysis for balanced rearrangements
3
Q
PCR or NGS is good for looking for?
A
De novo, point mutations
4
Q
What is gene redundancy?
A
Existence of multiple genes in the genome of an organism that perform the same function
(only 20 amino acids, but have many combinations of bases that can code for them)
5
Q
Tony has sister with CF. What are the chances of his child being affected?
A
Tony’s risk of carrier x partner’s risk x risk of passing on gene= child’s risk
2/3 x 1/25 x 1/4= 1/150
