Albinism

Flashcards covering key concepts related to albinism and sickle cell anemia.

What is Albanism

A condition where humans lack the pigment melanin in their skin, hair, and eyes.

What is melanin therefore?

A pigment responsible for the color of skin, hair, and eyes.

How is albinism caused?

• This sequence shown in the image is catalysed by enzyme ‘tyrosinase’ (e.g tyrosine converted to DOPA by tyrosinase)

• A recessive allele for gene (TYR) on 11th chromosome = lack of tyrosinase/ presence of inactive tyrosinase

• Without Tyrosinase= no conversion of tyrosine into melanin

Tyr gene

A gene located on chromosome 11 that codes for the enzyme tyrosinase.

Tyrosine

An amino acid that is the precursor to melanin.

DOPA

A product of tyrosine conversion that is further processed to produce dopaquinone

Dopaquinone

An intermediate in the pathway from DOPA to melanin.