Human Genetics

, Volume 100, Issue 5–6, pp 651–656

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

  • Neelu Puri
  • Donna Durham-Pierre
  • Robert Aquaron
  • Patricia M. Lund
  • Richard A. King
  • M. H. Brilliant
Original investigation

DOI: 10.1007/s004390050568

Cite this article as:
Puri, N., Durham-Pierre, D., Aquaron, R. et al. Hum Genet (1997) 100: 651. doi:10.1007/s004390050568

Abstract

In previous studies, we characterized a 2.7-kb interstitial deletion allele of the P gene associated with tyrosinase-positive oculocutaneous albinism (OCA2) in African Americans and Africans. In this study, we investigated the frequency of this allele among OCA2 subjects in two African countries, Zimbabwe and Cameroon. The deletion allele was most common in Zimbabwe, comprising nearly all (92%) mutant alleles, which is the highest incidence reported so far. In addition, the deletion allele was widespread but less common among OCA2 Cameroonians and accounted for 65% of the mutant alleles.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Neelu Puri
    • 1
  • Donna Durham-Pierre
    • 2
  • Robert Aquaron
    • 3
  • Patricia M. Lund
    • 4
  • Richard A. King
    • 5
  • M. H. Brilliant
    • 1
  1. 1.Institute for Cancer Research, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia, PA 19111, USA Tel.: +1 215 728-2864; Fax: +1 215 728-3105US
  2. 2.Department of Life Sciences, Winston-Salem State University, Winston-Salem, NC 27110, USAUS
  3. 3.Biological Laboratory, Children’s Hospital, Marseilles, FranceFR
  4. 4.University of Zimbabwe, Harare, ZimbabweZW
  5. 5.Institute of Human Genetics and Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USAUS

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