Mech and util. of molecular genetic testing Flashcards
2 times molecular tests are used
- mutation targeting - know what we are looking for
2. mutation scanning - hunting
3 ways knowing is helpful
- diagnosis - confirm disorder
- prevention - offer prophylaxis
- therapy - can sometimes replace
3 ways genes are influenced
- age
- env.
- genetic susceptibility
what is sanger sequencing
DNA is PCR amplified and the sequenced for mutations
what is limit to sanger
can’t detect del. and dup that are larger than sequence
4 outcomes of SNP
- silent
- missense
- non-sense
- splice error
example of coding SNP
missense in AAT - aggregates in liver and get cirrocis - worse in drinkers
what is impact of intronic SNP
can cause diruption of translocation and exon skipping
what is basic molecular methodology
- extract DNA/RNA from tissue of interest
- PCR the DNA
- analyze the sequence
what is QF-PCR
qualitative flourenscence -
uses polymorphic loci called microsattelite repeats
what are QF-PCR outcomes
1:1 ratio if diallelic
2:1 if 3 alleles - 2 of the same length
3 peaks if triallelic
what would be seen in klinefelters
2:1 because 2X and 1 Y
what is seen in BRCA mutation
deletion of 39 bps leading to frameshift mutation
how to test for BCR-ABL
look at PCR banding against controls and people with known mutatiokns
what is treatment of BCR-ABL
give tirosine kinase inhibitor
