Genetic tests Flashcards
1
Q
To see if a mutation is absent or present
A
Allele specific PCR
2
Q
Determine point mutation
A
Oligonucleotide ligation assay
3
Q
Copy number changes
A
MLPA
FISH
qPCR (if FISH unsuitable)
Microarray CGH (genome wide screen)
4
Q
If can’t use PCR to detect a known sequence (because strand is too long or GC rich)
A
Southern Blotting
5
Q
Detect an unknown mutation
A
DNA sequencing (clonal)
6
Q
Blotting test used for protein
A
Western
7
Q
Blotting test used for RNA
A
Northern
8
Q
Blotting test used for DNA
A
Southern
9
Q
Which patients are tested for a copy number change?
A
Learning disabilities
Low IQ
Dysmorphic
Autism spectrum
10
Q
To detect prenatal aneuploidy
A
Quantitative fluorescent PCR
11
Q
Tumours
A
FISH
12
Q
Chromosomal abnormalities such as translocation
A
G-banding
