title: Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
abstract: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. Here, we present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. We describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: R K
authors.initials: RK
authors.lastname: Tripathi
authors.forename: S
authors.initials: S
authors.lastname: Bundey
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
authors.forename: S
authors.initials: S
authors.lastname: Droetto
authors.forename: K M
authors.initials: KM
authors.lastname: Strunk
authors.forename: S A
authors.initials: SA
authors.lastname: Holmes
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003001:Cloning, Molecular; D003241:Consanguinity; D017931:DNA Primers / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005260:Female; D006801:Humans; D007194:India / Q000208:ethnology; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D010154:Pakistan / Q000208:ethnology; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D014442:Monophenol Monooxygenase