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

研究成果: Contribution to journalArticle査読

85 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)176-179
ページ数4
ジャーナルNature genetics
7
2
DOI
出版ステータス出版済み - 6 1994
外部発表はい

All Science Journal Classification (ASJC) codes

  • 遺伝学

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