Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)

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...

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Bibliographic Details
Published in:American journal of human genetics 1993-12, Vol.53 (6), p.1173-1179
Main Authors: TRIPATHI, R. K, BUNDEY, S, MUSARELLA, M. A, DROETTO, S, STRUNK, K. M, HOLMES, S. A, SPRITZ, R. A
Format: Article
Language:English
Subjects:
Adolescent
Adult
Albinism, Oculocutaneous - enzymology
Albinism, Oculocutaneous - ethnology
Albinism, Oculocutaneous - genetics
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Child
Cloning, Molecular
Consanguinity
Dermatology
DNA Primers - chemistry
Electrophoresis, Polyacrylamide Gel
Exons
Female
genes
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Humans
India - ethnology
Infant
Male
man
Medical sciences
Molecular Sequence Data
monophenol monooxygenase
Monophenol Monooxygenase - genetics
Mutation
oculocutaneous albinism
Pakistan - ethnology
Polymorphism, Restriction Fragment Length
Sequence Analysis, DNA
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Summary: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.
ISSN:0002-9297
1537-6605