title: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
abstract: Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African-American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African-American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African-American patients with OCA2.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
authors.forename: R D
authors.initials: RD
authors.lastname: Nicholls
authors.forename: R E
authors.initials: RE
authors.lastname: Schnur
authors.forename: L C
authors.initials: LC
authors.lastname: Guida
authors.forename: J
authors.initials: J
authors.lastname: Lu-Kuo
authors.forename: N B
authors.initials: NB
authors.lastname: Spinner
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000208:ethnology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D001741:Black or African American
chemical_list: D014442:Monophenol Monooxygenase