Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.

doi:10.1111/1523-1747.ep12477808

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Article

Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.

The Journal of investigative dermatology - 1 Jul 1991

Oetting W S, Handoko H Y, Mentink M M, Paller A S, White J G, King R A

Abstract excerpt

We have analyzed the tyrosinase coding region of three individuals having Type IA OCA within an extended family using genomic DNA amplification and dideoxy sequencing. Two of the affected individuals are dizygotic twins. All three have a common missense mutation at codon 81 (Pro----Leu) within ex...

Topics

Albinism, Oculocutaneous
Alleles
Base Sequence
Codon
Exons
Humans
Molecular Sequence Data
Monophenol Monooxygenase
Mutation
Polymorphism, Restriction Fragment Length

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