{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:09:58Z","timestamp":1780524598371,"version":"3.54.1"},"reference-count":15,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,11]]},"abstract":"<jats:p>The term oculocutaneous albinism (OCA) covers a range of autosomal recessive genetic conditions involving hypopigmentation of the skin, hair, and eyes. In southern African black ethnic groups the tyrosinase positive form, OCA2, is predominant, with few cases of tyrosinase negative OCA1. The prevalence of OCA2 in schoolchildren in Harare, the capital city of Zimbabwe, was found to be 1 in 2833. The gene frequency for OCA2 was 0.0188, with a carrier frequency of 1 in 27. Most of the pupils with albinism belong to the majority Shona ethnic group. As consanguineous marriages are discouraged in the Shona culture this high rate is likely to be a result of genetic drift in a relatively small population showing limited mobility. OCA pupils were found in more than a third of the secondary schools in Harare, emphasising the importance of distributing information on albinism and its management widely throughout the school system.<\/jats:p>","DOI":"10.1136\/jmg.32.11.859","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"859-861","source":"Crossref","is-referenced-by-count":20,"title":["Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe."],"prefix":"10.1136","volume":"32","author":[{"given":"F","family":"Kagore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P M","family":"Lund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1995,11,1]]},"reference":[{"key":"ref_1","first-page":"2905","article-title":"Albinsim","volume-title":"The metabolic basis of inherited disease","author":"Witkop, C.J.; Quevedo, W.C.; Fitzpatrick, T.B.; King, R.A.","year":"1989","unstructured":"Witkop CJ, Quevedo WC, Fitzpatrick TB, King RA. Albinsim. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1989:2905-47.","edition":"6th ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0733-8635(18)30668-5","article-title":"Albinism","volume":"6","author":"King, R.A.; Summers, C.G.","year":"1988","unstructured":"King RA, Summers CG. Albinism. Dermatol Clin 1988;6: 217-28.","journal-title":"Dermatol Clin"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/1523-1747.ep12399447","article-title":"Molecular basis of oculocutaneous albinism","volume":"103","author":"Oetting, W.S.; King, R.A.","year":"1994","unstructured":"Oetting WS, King RA. Molecular basis of oculocutaneous albinism. J Invest Dermatol 1994;103:131-6S.","journal-title":"J Invest Dermatol"},{"key":"ref_4","first-page":"879","article-title":"The tyrosinasepositive oculocutaneous albinism locus maps to chromosome 15ql1.2ql2","volume":"51","author":"Ramsay, M.; Colman, M.; Stevens, G.","year":"1992","unstructured":"Ramsay M, Colman M, Stevens G, et al. The tyrosinasepositive oculocutaneous albinism locus maps to chromosome 15ql1.2ql2. Am J Hum Genet 1992;51:879-84.","journal-title":"Am J Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/361072a0","article-title":"A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism","volume":"361","author":"Rinchik, E.M.; Bultman, S.J.; Horsthemke, B.","year":"1993","unstructured":"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.","journal-title":"Nature"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1056\/NEJM199402243300803","article-title":"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Xilli syndrome plus albinism","volume":"330","author":"Lee, S.; Nicholls, R.D.; Bundey, S.; Laxova, R.; Musarella, M.; Spritz, R.A.","year":"1994","unstructured":"Lee S, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Xilli syndrome plus albinism. N Engl J Med 1994;330:529-34.","journal-title":"N Engl J Med"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/ng0694-176","article-title":"African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism","volume":"7","author":"Durham-Pierre, D.; Gardner, J.M.; Nakatsu, Y.","year":"1994","unstructured":"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. Nature Genet 1994;7: 176-9.","journal-title":"Nature Genet"},{"key":"ref_8","first-page":"586","article-title":"An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism (OCA2) in southern African Negroids","volume":"56","author":"Stevens, G.; van Beukering, J.; Jenkins, T.; Ramsay, M.","year":"1995","unstructured":"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.","journal-title":"Am J Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/j.1399-0004.1989.tb03365.x","article-title":"Albinsim and skin cancer in southern Africa","volume":"36","author":"Kromberg, J.G.R.; Castle, D.; Zwane, E.M.; Jenkins, T.","year":"1989","unstructured":"Kromberg JGR, Castle D, Zwane EM, Jenkins T. Albinsim and skin cancer in southern Africa. Clin Genet 1989;36: 43-52.","journal-title":"Clin Genet"},{"key":"ref_10","first-page":"485","volume":"92","author":"in Nigeria, Okoro A.N.Albinism","year":"1975","unstructured":"Okoro AN. Albinism in Nigeria. Br J Dermatol 1975;92: 485-92.","journal-title":"Br J Dermatol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1002\/1097-0142(19850415)55:8<1823::AID-CNCR2820550830>3.0.CO;2-X","article-title":"The Tanzanian human albino skin","volume":"55","author":"Luande, J.; Henschke, C.I.; Mohammed, N.","year":"1985","unstructured":"Luande J, Henschke CI, Mohammed N. The Tanzanian human albino skin. Cancer 1985;55:1823-8.","journal-title":"Cancer"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.23.4.323","article-title":"Differentiation of heterozygotes in recessive albinism","volume":"23","author":"Roberts, D.F.; Kromberg, J.G.R.; Jenkins, T.","year":"1986","unstructured":"Roberts DF, Kromberg JGR, Jenkins T. Differentiation of heterozygotes in recessive albinism. J Med Genet 1986;23: 323-7.","journal-title":"J Med Genet"},{"key":"ref_13","first-page":"383","article-title":"Prevalence of albinism in the South African negro","volume":"61","author":"Kromberg, J.G.R.; Jenkins, T.","year":"1982","unstructured":"Kromberg JGR, Jenkins T. Prevalence of albinism in the South African negro. S Afr MedJY 1982;61:383-6.","journal-title":"S Afr MedJY"},{"key":"ref_14","first-page":"45","article-title":"Characterization of the genetic profile of Swaziland, the ABO blood groups and albinism","volume":"9","author":"Ewusie, J.Y.","year":"1988","unstructured":"Ewusie JY. Characterization of the genetic profile of Swaziland, the ABO blood groups and albinism. Swazi J Sci Technol 1988;9:45-55.","journal-title":"Swazi J Sci Technol"},{"key":"ref_15","article-title":"The Shona and Zimbabwe 900-1850","author":"Beach, D.N.","year":"1990","unstructured":"Beach DN. The Shona and Zimbabwe 900-1850. Zimbabwe: Mambo Press, 1990."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.11.859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:04:20Z","timestamp":1760767460000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.11.859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11]]},"references-count":15,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1995,11,1]]},"published-print":{"date-parts":[[1995,11]]}},"alternative-id":["10.1136\/jmg.32.11.859"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.11.859","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11]]}}}