Affordable Access

Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

Authors
  • Breimer, L H
  • Winder, A F
  • Jay, B
  • Jay, M
Type
Published Article
Journal
Clinica Chimica Acta
Publisher
Elsevier
Publication Date
Jun 01, 1994
Volume
227
Issue
1-2
Pages
17–22
Identifiers
PMID: 7955413
Source
Medline
License
Unknown

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.

Report this publication

Statistics

Seen <100 times