African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

D. Durham-Pierre, J. M. Gardner, Y. Nakatsu, R. A. King, U. Francke, A. Ching, R. Aquaron, V. Del Marmol, M. H. Brilliant

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84 Citations (Scopus)

Abstract

Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive forms involves the tyrosinase gene (OCA1), while the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. OCA2 is about twice as common as OCA1 in African and African-American populations. We now describe an interstitial deletion that removes a single exon of the P gene. In a large family from an inbred population of tri-racial origin, all individuals with OCA2 were found to be homozygous for this allele. Moreover, the same mutant P allele was detected in several unrelated African American individuals with OCA2, but not in Caucasians with OCA2. The detection of the same allele in two unrelated Africans with OCA2 indicates an African origin for this allele.

Original languageEnglish
Pages (from-to)176-179
Number of pages4
JournalNature genetics
Volume7
Issue number2
DOIs
Publication statusPublished - Jun 1994
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics

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