Article
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
American journal of human genetics - 1 Nov 1997
Manga P, Kromberg J G, Box N F, Sturm R A, Jenkins T, Ramsay M
Abstract excerpt
Oculocutaneous albinism (OCA) is the most common autosomal recessive disorder among southern African Blacks. There are three forms that account for almost all OCA types in this region. Tyrosinase-positive OCA (OCA2), which is the most common, affects approximately 1/3,900 newborns and has a carri...
Topics
- Africa, Southern
- Albinism, Oculocutaneous
- Black People
- DNA Mutational Analysis
- DNA Primers
- Female
- Humans
- Lod Score
- Male
- Membrane Glycoproteins
- Microsatellite Repeats
- Mutation
- Oxidoreductases
- Phenotype
- Pigmentation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational