Lecture 12a Phenylketonuria, Human Pedigrees and Autosomal Inheritance Flashcards
1
Q
What is the Founder effect?
A
Disproportionately large genetic contribution because of small population size
2
Q
What is a heterozygote advantage?
A
A single copy of disease allele offers some benefit/advantage
(eg sickle cell anemia and malaria)
3
Q
what is a consaguineous mating?
A
Known inbreeding
4
Q
What is phenylketonuria (PKU)?
A
Defect in phenylalanine hydroxylase (liver enzyme)
- causes buildup of phenylalanine and phenylpyruvic acid (essential AA from diet)
- managed by a low protein diet
5
Q
A
