Genetic tests Flashcards Preview

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Flashcards in Genetic tests Deck (12):
1

To see if a mutation is absent or present

Allele specific PCR

2

Determine point mutation

Oligonucleotide ligation assay

3

Copy number changes

MLPA
FISH
qPCR (if FISH unsuitable)
Microarray CGH (genome wide screen)

4

If can't use PCR to detect a known sequence (because strand is too long or GC rich)

Southern Blotting

5

Detect an unknown mutation

DNA sequencing (clonal)

6

Blotting test used for protein

Western

7

Blotting test used for RNA

Northern

8

Blotting test used for DNA

Southern

9

Which patients are tested for a copy number change?

Learning disabilities
Low IQ
Dysmorphic
Autism spectrum

10

To detect prenatal aneuploidy

Quantitative fluorescent PCR

11

Tumours

FISH

12

Chromosomal abnormalities such as translocation

G-banding