Albinism

Question 1

What is albinism?

Answer 1

Affecting 1/17,000 individuals.

It is a autosomal recessive disease, that is MOSTLY monogenic.

20 genes implicated.

Variable degrees of hypopigmentation in skin/eyes/hair.
Susceiptiblity to skin cancer.

Question 2

What are the two most common genes implicated in ALbinism?

Answer 2

OCA1 = Tyr = Tyrosinase gene in C11.
= Autosomal, recessive.

OCA2 = C15
Autosomal recessive.

Question 3

What is pleiotropy?

Answer 3

A defect in one gene can result in different phenotypes.

In albinism:
Skin hypopigmentation
Fovael hypoplasia
Optic chiasm misrouting = blindness.

Question 4

What is epistasis?

Answer 4

A mutation in one gene can hide the phenotypic effect of a mutation in another gene.
E.G
Tyr mutation will hide downstream mutants and appear as just albino.