Genetic Basis of Disease Flashcards
1
Q
What is epigenetic?
A
Heritable changes in gene function without changes to the sequence of DNA itself
2
Q
Which nucleotide in a promoter region can be methylated to reduce the expression of that gene?
At what position is it methylated?
Why enzymes are responsible for this?
A
Cytosine
At the 5 carbon position to form 5-methylcytosine
DNA methyltransferases
3
Q
In cystic fibrosis, what physical change to the base pairs occurs?
At what position does this change occur?
A
The deletion of X3 base pairs = phenylaline at the 508th position
4
Q
What is genetic anticipation?
Give an example of a disease which shows genetic anticipation.
A
A process whereby the symptoms of a disease appear at an earlier age in successive generations
Huntington’s disease
