Flashcards in W0_05 Understanding Molecular Genetics Deck (8)
note: we have both mutation targeting and mutation scanning when we are doing diagnostics.
in the future, we hope for whole genome analysis
what is sanger sequencing?
DNA is PCR amplified in small parts (amplicons) which are then sequenced and checked for mutations
z mutation in alpha-1-antitrypsin deficiency is which kind of mutation?
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)
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
note: for bone marrow diagnosis of CML, RNA must first be extracted, then reverse transcribed into DNA, then amplified
how to treat for CML?
make something that binds to bcr-abl to prevent it from phosphorylating growth genes