{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:54:22Z","timestamp":1790754862495,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,9]]},"abstract":"<jats:p>Oculocutaneous albinism (OCA) is a recessively inherited genetic condition prevalent throughout sub-Saharan Africa. We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of northern Zimbabwe. The prevalence in this region was 1 in 1000, which is four times higher than that for the country as a whole. The gene frequency for OCA2 in this population was calculated as 0.0316, with a carrier rate of 1 in 16. Molecular analysis showed that all five affected subjects from two independent families examined were found to be homozygous for an interstitial 2.7 kb deletion mutation commonly found in OCA2 subjects in Africa. An obligate carrier from another family was heterozygous for this deletion allele. Affected subjects in this isolated community suffered health, social, and economic problems.<\/jats:p>","DOI":"10.1136\/jmg.34.9.733","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"733-735","source":"Crossref","is-referenced-by-count":34,"title":["Oculocutaneous albinism in an isolated Tonga community in Zimbabwe."],"prefix":"10.1136","volume":"34","author":[{"given":"P M","family":"Lund","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Puri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Durham-Pierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M H","family":"Brilliant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,9,1]]},"reference":[{"key":"ref_1","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. Amt J Humn Genet 1995;56:586-91.","journal-title":"Amt J Humn Genet"},{"key":"ref_2","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_3","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.33.8.641","article-title":"Distribution of oculocutaneous albinism in Zimbabwe","volume":"33","author":"Lund, P.M.","year":"1996","unstructured":"Lund PM. Distribution of oculocutaneous albinism in Zimbabwe. J Med Genet 1996;33:641-4.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1136\/jmg.32.11.859","article-title":"Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe","volume":"32","author":"Kagore, F.; Lund, P.M.","year":"1995","unstructured":"Kagore F, Lund PM. Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. Med Genet _ 1995;32:859-61.","journal-title":"Med Genet _"},{"key":"ref_5","first-page":"879","article-title":"The tyrosinasepositive oculocutaneous albinism locus maps to chromosome 15q11.2-q12","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 15q11.2-q12. Am JHum Genet 1992;51:879-84.","journal-title":"Am JHum Genet"},{"key":"ref_6","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_7","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-Willi 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-Willi syndrome plus albinism. N Engl J Med 1994;330:529-34.","journal-title":"N Engl J Med"},{"key":"ref_8","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. Nat Genet 1994;7: 176-9.","journal-title":"Nat Genet"},{"key":"ref_9","first-page":"1320","article-title":"Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)","volume":"56","author":"Spritz, R.A.; Fukai, K.; Holmes, S.A.; Luande, J.","year":"1995","unstructured":"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 7 Hum Genet 1995;56: 1320-3.","journal-title":"Am 7 Hum Genet"},{"key":"ref_10","article-title":"Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7 kb deletion allele of the P gene. Hum Genet","author":"Purn, N.; Durham-Pierre, D.; Aquaron, R.; Lund, P.M.; King, R.A.; Brilliant, M.H.","unstructured":"Purn 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)."},{"key":"ref_11","first-page":"370","article-title":"Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in AfricanAmericans. Hum Mutat 1996,7","author":"Durham-Pierre, D.; King, R.A.; Naber, J.M.; Laken, S.; Brilliant, M.H.","unstructured":"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 AfricanAmericans. Hum Mutat 1996,7:370-3."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.9.733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:24:51Z","timestamp":1759721091000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.9.733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,9]]},"references-count":11,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1997,9,1]]},"published-print":{"date-parts":[[1997,9]]}},"alternative-id":["10.1136\/jmg.34.9.733"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.9.733","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,9]]}}}