Article
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.
American journal of human genetics - 1 Jun 1994
Kedda M A, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M
Abstract excerpt
Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of th...
Topics
- Africa, Southern
- Albinism, Oculocutaneous
- Alleles
- Black People
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Humans
- Mutation
- Phenotype