W0_05 Understanding Molecular Genetics Flashcards Preview

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Flashcards in W0_05 Understanding Molecular Genetics Deck (8)
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1

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

in the future, we hope for whole genome analysis

2

what is sanger sequencing?

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

3

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

missense

4

a SNP can be dangerous because it can cause exon skipping

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

5

what is quantitative fluorescent PCR?

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

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

ok

7

how to treat for CML?

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

8

what's non-invasive prenatal testing?

screening the maternal blood for trisomies and sex chromosome abnormalities

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