Oculocutaneous albinism in an isolated Tonga community in Zimbabwe

Journal of Medical Genetics

Volumn 34, Issue 9, 1997, Pages 733-735

  Lund, Patricia M ^a,e   Puri, Neelu ^b   Durham Pierre, Donna ^c   King, Richard A ^d   Brilliant, Murray H ^b  

^a UNIVERSITY OF ZIMBABWE   (Zimbabwe)

^b FOX CHASE CANCER CENTER   (United States)

^c WINSTON SALEM STATE UNIVERSITY   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e NONE   (United Kingdom)

Author keywords

Africa; Albinism; OCA2

Indexed keywords

MONOPHENOL MONOOXYGENASE;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; ECONOMIC ASPECT; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENE MUTATION; HEALTH; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; MALE; OCULOCUTANEOUS ALBINISM; PREVALENCE; PRIORITY JOURNAL; SOCIAL PROBLEM; ZIMBABWE;

OXALIS TUBEROSA;

EID: 0030883104     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.733     Document Type: Article

References (11)

1. Stevens G, van Beukering J, Jenkins T, Ramsay M. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism (OCA2) in southern African Negroids. Am J Hum Genet 1995;56:586-91.
2. Ewusie JY. Characterization of the genetic profile of Swaziland, the ABO blood groups and albinism. Swazi J Sci Technol 1988;9:45-55.
3. Lund PM. Distribution of oculocutaneous albinism in Zimbabwe. J Med Genet 1996;33:641-4.
4. Kagore F, Lund PM. Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. J Med Genet 1995;32:859-61.
5. Ramsay M, Colman M, Stevens G, et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 1992;51:879-84.
6. Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993;361:72-6.
7. Lee S, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994;330:529-34.
8. Durham-Pierre D, Gardner JM, Nakatsu Y, et al. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat Genet 1994;7:176-9.
9. Spritz RA, Fukai K, Holmes SA, Luande J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 1995;56:1320-3.
10. Puri N, Durham-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH. Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7 kb deletion allele of the P gene. Hum Genet (in press).
11. Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH. Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. Hum Mutat 1996,7:370-3.