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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 carrier frequency of approximately 1/33. It is caused by mutations in the P gene on chromosome 15. Brown OCA (BOCA) and...

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Source

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Identifiers

PMID: 9345097
DOI: 10.1086/301603
PMCID: PMC1716031

Genes

TYRP1
OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.PMID 9345097Read ↗

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.Semantic proximity Read ↗

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.Semantic proximity Read ↗

Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.Semantic proximity Read ↗

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.Semantic proximity Read ↗

Albinism research in a Southern African setting: unique findingsSemantic proximity Read ↗

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.Semantic proximity Read ↗

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