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Initiation codon mutation of the tyrosinase gene as a cause of human albinism
L H Breimer1, A F Winder, B Jay
1Department of Chemical Pathology and Human Metabolism, Royal Free Hospital School of Medicine, London, UK.
Abstract:
Direct DNA sequence determination of PCR amplified exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the initiating methionine codon into a valine codon thereby abolishing translation; (2) a thymine to cytosine transition at codon 370 changes a methionine to a threonine residue; (3) a cytosine to thymine transition at codon 367 changes a histidine to a tyrosine residue. A codon 402 change previously considered a polymorphism is assigned a pathological role.
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