Initiation codon mutation of the tyrosinase gene as a cause of human albinism
| Autor: | Lars H. Breimer, Marcelle Jay, Barrie Jay, Anthony F. Winder |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Adult
Male Silent mutation Albinism Molecular Sequence Data Clinical Biochemistry Codon Initiator Biology Biochemistry chemistry.chemical_compound Start codon medicine Humans Missense mutation skin and connective tissue diseases Genetics Base Sequence Monophenol Monooxygenase Point mutation Biochemistry (medical) Nucleic acid sequence General Medicine Middle Aged medicine.disease Oculocutaneous albinism Molecular biology chemistry Codon usage bias Mutation Female sense organs Cytosine |
| Zdroj: | Clinica Chimica Acta. 227:17-22 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/0009-8981(94)90131-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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