W0_05 Understanding Molecular Genetics Flashcards Preview

MMMD 2 > W0_05 Understanding Molecular Genetics > Flashcards

Flashcards in W0_05 Understanding Molecular Genetics Deck (8)
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1
Q

note: we have both mutation targeting and mutation scanning when we are doing diagnostics.

A

in the future, we hope for whole genome analysis

2
Q

what is sanger sequencing?

A

DNA is PCR amplified in small parts (amplicons) which are then sequenced and checked for mutations

3
Q

z mutation in alpha-1-antitrypsin deficiency is which kind of mutation?

A

missense

4
Q

a SNP can be dangerous because it can cause exon skipping

A

e.g. CAG to CAA. (both make glutamine, but CAA can cause exon splicing)

5
Q

what is quantitative fluorescent PCR?

A

use microsatellite repeats - should be equal for each locus tested.
1:1 ratio if diallelic,
2:1 ratio if triallelic with two the same length,
3 peaks if three different alleles

6
Q

note: for bone marrow diagnosis of CML, RNA must first be extracted, then reverse transcribed into DNA, then amplified

A

ok

7
Q

how to treat for CML?

A

make something that binds to bcr-abl to prevent it from phosphorylating growth genes

8
Q

what’s non-invasive prenatal testing?

A

screening the maternal blood for trisomies and sex chromosome abnormalities

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