| VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma. | |
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MedLine Citation:
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PMID: 16110299 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To select and characterize novel POAG disease genes. On the basis of genetic position (GLC1B), expression in the optic nerve, and biochemical function (targeted membrane transport processes), we selected the human VAMP5 and VAMP8 (encoding vesicle-associated membrane proteins 5 and 8) as potential candidate disease genes for POAG. We subsequently analyzed whether or not sequence changes in VAMP5 or VAMP8 were implicated in POAG. METHODS: Genomic DNA samples from 90 POAG cases and 60 controls were screened by denaturing high performance liquid chromatography of fragments amplified by the polymerase chain reaction. Direct sequencing identified nucleotide changes. RESULTS: No nonsynonymous rare sequence variants were found in VAMP5 or VAMP8. In VAMP5, three previously identified and five new single nucleotide polymorphisms (SNPs) were found. In VAMP8, four known and two new SNPs were detected. All new SNPs did not appear to change gene function or alter gene splicing. No significant differences were found between the allele frequencies in POAG cases and controls. CONCLUSIONS: Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population. |
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Authors:
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Joep F F Brinkman; Cecile P E Ottenheim; Leo A M S de Jong; Richard H C Zegers; Marc D de Smet; Paulus T V M de Jong; Arthur A B Bergen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2005-08-04 |
Journal Detail:
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Title: Molecular vision Volume: 11 ISSN: 1090-0535 ISO Abbreviation: Mol. Vis. Publication Date: 2005 |
Date Detail:
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Created Date: 2005-08-19 Completed Date: 2006-04-13 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9605351 Medline TA: Mol Vis Country: United States |
Other Details:
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Languages: eng Pagination: 582-6 Citation Subset: IM |
Affiliation:
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Division of Development, Aging and Genetic diseases of the Eye, Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, The Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromatography, High Pressure Liquid DNA Mutational Analysis DNA Primers / chemistry Exons / genetics Glaucoma, Open-Angle / genetics* Humans Linkage (Genetics) Polymorphism, Single Nucleotide R-SNARE Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/R-SNARE Proteins; 0/VAMP5 protein, human; 0/VAMP8 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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