genetics Flashcards
what does genetic sequencing identify
changes in single bases
what does microarray detect
deletions and duplications of DNA
what does c. mean
changes in DNA sequence in relation to coding DNA
what is c. usually referenced in
mRNA
what does p. mean
changes in peptide sequence
what does Ter mean
premature stop codon
what is penetrance
the likelihood of developing the disease if you have the genetic mutation
what do quantitative variants do
stop functioning protein being made
give an example of an autosomal recessive condition that has quantitative variants
spinal muscular atrophy
give an example of an autosomal dominant condition that has quantitative variants
neurofibromatosis
give an example of an X-linked condition that has quantitative variants
duchenne’s
what do qualitative variants do
make abnormal proteins
what are the 2 main types of qualitative variants
activating and dominant negative
what do activating qualitative variants do
switch protein on
what do dominant negative qualitative variants do
interferes with the function of a normal protein
