genetic variation Flashcards
1
Q
aCGH
A
analyses deletions/ duplications
for balanced rearrangements
2
Q
pcr
A
alllows us to select one small piece of genome and makes lots of copies
3
Q
what does p mean
A
change in peptide sequence
4
Q
what does c mean
A
change in mature mrna sequence
5
Q
next geenration sequecning
A
determines the order of nucleotides in entire genomes or targeted regions of DNA or RNA.
6
Q
penetrance
A
liklihood of having a disease if you have a mutation
7
Q
autosomal dominant
A
one faulty copy of gene causes diseases
8
Q
autosomal dominant
A
seen in all generations
50% risk if parent is affected
males and females equally affceted
9
Q
A
