Neurogenetics

Question 1

What is an example of a neurodegenerative disease caused by a missense mutation? What is the gene?

Answer 1

Alzheimer’s Disease
PSEN1 (93 different mutations)

Question 2

What is the Hardy Weinberg equation for. SNP frequency?

Answer 2

P^2 + 2pq + q^2
Where p is the frequency of the dominant allele
And q is the frequency of the recessive allele
P^2 will be homozygous frequency
2pq will be heterozygous frequency
Q^2 will be homozygous frequency