Mutational analysis of the OA1 gene in ocular albinism
| Autor: | Olivier Camand, Sandrine Boutboul, Laurence Gat, Laurence Arbogast, Olivier Roche, Claude Sternberg, Joanne Sutherland, Alex Levin, Elise Héon, Maurice Menasche, Jean-Louis Dufier, Marc Abitbol |
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| Rok vydání: | 2003 |
| Předmět: |
Ocular albinism
Male genetic structures Nonsense mutation DNA Mutational Analysis Molecular Sequence Data Biology medicine.disease_cause Exon medicine Missense mutation Humans Amino Acid Sequence Eye Proteins Genetics (clinical) Hypopigmentation Genetics Mutation Membrane Glycoproteins Polymorphism Genetic Sequence Homology Amino Acid Exons medicine.disease Albinism Ocular eye diseases Pedigree Ophthalmology Phenotype Pediatrics Perinatology and Child Health Albinism Ocular albinism type 1 Female sense organs medicine.symptom |
| Zdroj: | Ophthalmic genetics. 24(3) |
| ISSN: | 1381-6810 |
| Popis: | Ocular albinism type 1 (OA1) is an X-linked disorder, mainly characterized by a severe reduction in visual acuity, foveal hypoplasia, nystagmus, hypopigmentation of the retina, the presence of macromelanosomes in the skin and eyes, and the misrouting of optic pathways, resulting in the loss of stereoscopic vision. We screened the OA1 gene for mutations in three unrelated Canadian and French families and in two isolated patients with OA1. We found three different missense mutations and two different nonsense mutations, three of which were novel. To date, 41 mutations (including missense mutations, insertions, and deletions) have been reported in the OA1 gene. Mutation and polymorphism data for this gene are available from the international albinism center albinism database website: http://www.cbc.umn.edu/tad/oa1map.htm. |
| Databáze: | OpenAIRE |
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