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Volumn 99, Issue 4, 1997, Pages 523-527

Oculocutaneous albinism (OCA2) in sub-Saharan Africa: Distribution of the common 2.7-kb P gene deletion mutation

Author keywords

[No Author keywords available]

Indexed keywords

AFRICA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 15Q; GENE DELETION; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; NEGRO; OCULOCUTANEOUS ALBINISM; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 0030969388     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050400     Document Type: Article
Times cited : (51)

References (30)
  • 1
    • 77049164783 scopus 로고
    • Protection afforded by sickle cell trait against subtertian malarial infection
    • Allison AC (1954) Protection afforded by sickle cell trait against subtertian malarial infection. BMJ i:290-294
    • (1954) BMJ , vol.1 , pp. 290-294
    • Allison, A.C.1
  • 2
    • 1842283284 scopus 로고
    • Albinism in South Western Nigeria
    • Barnicot NA (1952) Albinism in South Western Nigeria. Ann Hum Genet 17:38-72
    • (1952) Ann Hum Genet , vol.17 , pp. 38-72
    • Barnicot, N.A.1
  • 4
    • 0030011888 scopus 로고    scopus 로고
    • Estimation of carrier frequency of a 2.7kb deletion allele of the P gene associated with OCA2 in African-Americans
    • Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH (1996) Estimation of carrier frequency of a 2.7kb deletion allele of the P gene associated with OCA2 in African-Americans. Hum Mutat 7:370-373
    • (1996) Hum Mutat , vol.7 , pp. 370-373
    • Durham-Pierre, D.1    King, R.A.2    Naber, J.M.3    Laken, S.4    Brilliant, M.H.5
  • 6
    • 0026686945 scopus 로고
    • The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman Syndromes
    • Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH (1992) The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman Syndromes. Science 257:1121-1124
    • (1992) Science , vol.257 , pp. 1121-1124
    • Gardner, J.M.1    Nakatsu, Y.2    Gondo, Y.3    Lee, S.4    Lyon, M.F.5    King, R.A.6    Brilliant, M.H.7
  • 8
    • 84945795978 scopus 로고
    • Some developments in the prehistory of the Bantu origins
    • Guthrie M (1962) Some developments in the prehistory of the Bantu origins. J Afr Hist 3:273-282
    • (1962) J Afr Hist , vol.3 , pp. 273-282
    • Guthrie, M.1
  • 9
    • 0028834885 scopus 로고
    • Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe
    • Kagore F, Lund PM (1995) Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. J Med Genet 32:859-861
    • (1995) J Med Genet , vol.32 , pp. 859-861
    • Kagore, F.1    Lund, P.M.2
  • 10
    • 0028285975 scopus 로고
    • The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence for multiple mutations in southern African Negroids
    • Kedda MA, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M (1994) The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence for multiple mutations in southern African Negroids. Am J Hum Genet 54:1078-1084
    • (1994) Am J Hum Genet , vol.54 , pp. 1078-1084
    • Kedda, M.A.1    Stevens, G.2    Manga, P.3    Viljoen, C.4    Jenkins, T.5    Ramsay, M.6
  • 11
    • 0019994487 scopus 로고
    • Prevalence of albinism in the South African Negro
    • Kromberg JGR, Jenkins T (1982) Prevalence of albinism in the South African Negro. S Afr Med J 61:383-386
    • (1982) S Afr Med J , vol.61 , pp. 383-386
    • Kromberg, J.G.R.1    Jenkins, T.2
  • 13
    • 0029382806 scopus 로고
    • The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: In support of a unifying hypothesis
    • Lamoreux ML, Zhou B-K, Rosemblat S, Orlow SJ (1995) The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: In support of a unifying hypothesis. Pigment Cell Res 8:263-270
    • (1995) Pigment Cell Res , vol.8 , pp. 263-270
    • Lamoreux, M.L.1    Zhou, B.-K.2    Rosemblat, S.3    Orlow, S.J.4
  • 14
    • 0028014593 scopus 로고
    • Mutations of the P gene in oculocutaneous albinism, ocular albinism and Prader-Willi syndrome plus albinism
    • Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (1994a) Mutations of the P gene in oculocutaneous albinism, ocular albinism and Prader-Willi syndrome plus albinism. New Engl J Med 330:529-534
    • (1994) New Engl J Med , vol.330 , pp. 529-534
    • Lee, S.T.1    Nicholls, R.D.2    Bundey, S.3    Laxova, R.4    Musarella, M.5    Spritz, R.A.6
  • 16
    • 0028942723 scopus 로고
    • Organisation and sequence of the human P gene and identification of a new family of transport proteins
    • Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA (1995) Organisation and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363
    • (1995) Genomics , vol.26 , pp. 354-363
    • Lee, S.T.1    Nicholls, R.D.2    Jong, M.T.3    Fukai, K.4    Spritz, R.A.5
  • 20
    • 0016500926 scopus 로고
    • Albinism in Nigeria
    • Okoro AN (1975) Albinism in Nigeria. Br J Dermatol 92:485-492
    • (1975) Br J Dermatol , vol.92 , pp. 485-492
    • Okoro, A.N.1
  • 22
    • 84925910535 scopus 로고
    • The spread of the Bantu languages
    • Phillipson DW (1977) The spread of the Bantu languages. Sci Am 236:106-114
    • (1977) Sci Am , vol.236 , pp. 106-114
    • Phillipson, D.W.1
  • 23
    • 0023568292 scopus 로고
    • Globin gene-associated restriction-fragment-length-polymorphisms in southern African peoples
    • Ramsay M, Jenkins TJ (1987) Globin gene-associated restriction-fragment-length-polymorphisms in southern African peoples. Am J Hum Genet 41:1132-1144
    • (1987) Am J Hum Genet , vol.41 , pp. 1132-1144
    • Ramsay, M.1    Jenkins, T.J.2
  • 24
    • 0026687861 scopus 로고
    • The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
    • Ramsay M, Colman MA, Stevens G, Zwane E, Farrall M, Jenkins T (1992) The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 51: 879-884
    • (1992) Am J Hum Genet , vol.51 , pp. 879-884
    • Ramsay, M.1    Colman, M.A.2    Stevens, G.3    Zwane, E.4    Farrall, M.5    Jenkins, T.6
  • 26
    • 0022456072 scopus 로고
    • Differentiation of heterozygotes in recessive albinism
    • Roberts DF, Kromberg JGR, Jenkins T (1986) Differentiation of heterozygotes in recessive albinism. J Med Genet 23:323-327
    • (1986) J Med Genet , vol.23 , pp. 323-327
    • Roberts, D.F.1    Kromberg, J.G.R.2    Jenkins, T.3
  • 27
    • 0027944079 scopus 로고
    • Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene
    • Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant M, Orlow SJ (1994) Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci USA 91:12071-12075
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 12071-12075
    • Rosemblat, S.1    Durham-Pierre, D.2    Gardner, J.M.3    Nakatsu, Y.4    Brilliant, M.5    Orlow, S.J.6
  • 28
    • 0030043741 scopus 로고    scopus 로고
    • mtDNA Control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans
    • Soodyall H, Vigilant L, Hill AV, Stoneking M, Jenkins T (1996) mtDNA Control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans. Am J Hum Genet 58:595-608
    • (1996) Am J Hum Genet , vol.58 , pp. 595-608
    • Soodyall, H.1    Vigilant, L.2    Hill, A.V.3    Stoneking, M.4    Jenkins, T.5
  • 29
    • 0029004012 scopus 로고
    • Frequent intragenic deletion in Tanzanian patients with type II oculocutaneous albinism (OCA2)
    • Spritz RA, Fukai K, Holmes SA, Luande J (1995) Frequent intragenic deletion in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 56:586-591
    • (1995) Am J Hum Genet , vol.56 , pp. 586-591
    • Spritz, R.A.1    Fukai, K.2    Holmes, S.A.3    Luande, J.4
  • 30
    • 0028945964 scopus 로고
    • An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids
    • Stevens G, Van Beukering J, Jenkins T, Ramsay M (1995) An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am J Hum Genet 56:586-591
    • (1995) Am J Hum Genet , vol.56 , pp. 586-591
    • Stevens, G.1    Van Beukering, J.2    Jenkins, T.3    Ramsay, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.