Abstract | PURPOSE: METHODS: The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic OCA using DNA sequencing and bioinformatics analysis. RESULTS: TYR gene mutations were identiļ¬ed in 14 (app. 60%) albinism patients. CONCLUSIONS: We found 10 mutations, 3 of which were novel. No mutation was found in our ocular albinism patients, but one of them was heterozygous for the p.R402Q polymorphism.
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Authors | Faravareh Khordadpoor-Deilamani, Mohammad Taghi Akbari, Morteza Karimipoor, Gholamreza Javadi |
Journal | Molecular vision
(Mol Vis)
Vol. 21
Pg. 730-5
( 2015)
ISSN: 1090-0535 [Electronic] United States |
PMID | 26167114
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Albinism, Ocular
(enzymology, genetics)
- Albinism, Oculocutaneous
(classification, enzymology, genetics)
- Consanguinity
- DNA Mutational Analysis
- Female
- Genes, Recessive
- Humans
- Male
- Monophenol Monooxygenase
(genetics)
- Mutation
- Pedigree
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