title: African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
abstract: Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive forms involves the tyrosinase gene (OCA1), while the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. OCA2 is about twice as common as OCA1 in African and African-American populations. We now describe an interstitial deletion that removes a single exon of the P gene. In a large family from an inbred population of tri-racial origin, all individuals with OCA2 were found to be homozygous for this allele. Moreover, the same mutant P allele was detected in several unrelated African American individuals with OCA2, but not in Caucasians with OCA2. The detection of the same allele in two unrelated Africans with OCA2 indicates an African origin for this allele.
authors.affiliation: Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111.
authors.forename: D
authors.initials: D
authors.lastname: Durham-Pierre
authors.forename: J M
authors.initials: JM
authors.lastname: Gardner
authors.forename: Y
authors.initials: Y
authors.lastname: Nakatsu
authors.forename: R A
authors.initials: RA
authors.lastname: King
authors.forename: U
authors.initials: U
authors.lastname: Francke
authors.forename: A
authors.initials: A
authors.lastname: Ching
authors.forename: R
authors.initials: R
authors.lastname: Aquaron
authors.forename: V
authors.initials: V
authors.lastname: del Marmol
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
mesh_terms: D000349:Africa / Q000208:ethnology; D016115:Albinism, Oculocutaneous / Q000145:classification / Q000201:enzymology* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014481:United States; D001741:Black or African American
chemical_list: D004247:DNA; D014442:Monophenol Monooxygenase