An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. Export

@article{citeulike:1785504, abstract = {Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations in the P gene have been identified in OCA2 individuals. An intragenic deletion has been described and proposed to be of African origin because of its occurrence in four unrelated African American OCA2 individuals and in two individuals, one from Zaire and the other from Cameroon. This study shows that the intragenic deletion is a common cause of OCA2 in southern African Negroids (114/146 [.78]; OCA2 chromosomes) and is associated with one common haplotype (43/55 [.78]; OCA2 chromosomes), confirming the African origin of this allele. On the basis of haplotype data, it would appear that at least seven additional, less frequent OCA2 mutations occur in this population.}, address = {Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.}, author = {Stevens, G. and van Beukering, J. and Jenkins, T. and Ramsay, M.}, citeulike-article-id = {1785504}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/7887411}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=7887411}, issn = {0002-9297}, journal = {Am J Hum Genet}, keywords = {27kb-del, africa, albinism, haplotypes, oca2, sub-saharan\_africa}, month = {March}, number = {3}, pages = {586--591}, posted-at = {2007-10-18 20:31:25}, priority = {5}, title = {An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/7887411}, volume = {56}, year = {1995} }

TY - JOUR ID - citeulike:1785504 L3 - citeulike-article-id:1785504 N2 - Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations in the P gene have been identified in OCA2 individuals. An intragenic deletion has been described and proposed to be of African origin because of its occurrence in four unrelated African American OCA2 individuals and in two individuals, one from Zaire and the other from Cameroon. This study shows that the intragenic deletion is a common cause of OCA2 in southern African Negroids (114/146 [.78]; OCA2 chromosomes) and is associated with one common haplotype (43/55 [.78]; OCA2 chromosomes), confirming the African origin of this allele. On the basis of haplotype data, it would appear that at least seven additional, less frequent OCA2 mutations occur in this population. IS - 3 JF - Am J Hum Genet SN - 0002-9297 AD - Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg. EP - 591 TI - An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. VL - 56 SP - 586 KW - 27kb-del KW - africa KW - albinism KW - haplotypes KW - oca2 KW - sub-saharan_africa AU - Stevens, G AU - van Beukering, J AU - Jenkins, T AU - Ramsay, M PY - 1995/03// UR - http://view.ncbi.nlm.nih.gov/pubmed/7887411 ER -