A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot
| Autor: | Anthony F. Winder, Lars H. Breimer, Barrie Jay, Anthony T. Moore, Panos Panayiotidis, Marcelle Jay |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Adolescent Guanine Tyrosinase Clinical Biochemistry Molecular Sequence Data Oligonucleotides Biology medicine.disease_cause Biochemistry Polymerase Chain Reaction Frameshift mutation chemistry.chemical_compound Gene duplication medicine Humans Codon Gene Sequence Deletion Genetics Mutation Base Sequence Monophenol Monooxygenase Biochemistry (medical) General Medicine Pedigree Open reading frame Phenotype chemistry Albinism Oculocutaneous Multigene Family Autoradiography Female Cytosine |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 243(1) |
| ISSN: | 0009-8981 |
| Popis: | Molecular analysis of the human tyrosinage gene in two patients suffering from a temperature-sensitive form of albinism has identified a thymine triplet deletion at codon 439 which is accompanied by a duplication of the immediately preceding cytosine residue. This results in a two base pair frame shift leading to premature termination at codon 448, giving a truncated protein. Its relationship to other mutations in tyrosinase and the possible cause are discussed. The temperature-sensitive phenotype is due to the guanine to adenine mutation at codon 422, known to generate a temperature-sensitive enzyme. The CTTT at F 439 in tyrosinase is also present at F 508 in CFTR, the main mutation causing cystic fibrosis. |
| Databáze: | OpenAIRE |
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