Gene Testing Flashcards
1
Q
What is penetrance?
A
likelihood of having a disease if you have a mutation
2
Q
What can genetic faults be found by?
A
PCR and sequencing
OR
Next generation sequencing
3
Q
What does PCR allow?
A
Allows us to select 1 small piece of human genome and amplify it
4
Q
If the mutation is in a promotor, what happens to protein?
A
is absent or reduced
5
Q
If splice consensus is altered, what happens?
A
mRNA decay and abnormal or absent protein made
6
Q
If a base change makes a new stop, what happens to the protein?
A
shortened or absent
7
Q
If the base change alters amino acid sequence what happens to the protein?
A
different or non sequencing protein made
8
Q
What can next generation sequencing do?
A
sequence all genome
