W0_05 Understanding Molecular Genetics

Question 1

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

Answer 1

in the future, we hope for whole genome analysis

Question 2

what is sanger sequencing?

Answer 2

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

Question 3

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

Answer 3

missense

Question 4

a SNP can be dangerous because it can cause exon skipping

Answer 4

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

Question 5

what is quantitative fluorescent PCR?

Answer 5

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

Question 6

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

Answer 6

ok

Question 7

how to treat for CML?

Answer 7

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

Question 8

what’s non-invasive prenatal testing?

Answer 8

screening the maternal blood for trisomies and sex chromosome abnormalities