Initiation codon mutation of the tyrosinase gene as a cause of human albinism.
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Breimer LH, Winder AF, Jay B, Jay M
Initiation codon mutation of the tyrosinase gene as a cause of human albinism.
Clin Chim Acta. 1994 Jun;227(1-2):17-22.
- PubMed ID
- 7955413 [ View in PubMed]
- 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.