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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Maselli, M. Del Bono, E. A. Wiggs, J. L. Auguste, J. Olson, L. M. Ynagi, G. Lynch, S. Haines, J. L. |
| Description | Country affiliation: United States Author Affiliation: Wiggs JL ( Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA. janey_wiggs@meei.harvard.edu.) |
| Abstract | Glaucoma is a leading cause of blindness worldwide. The disease is characterized by a degeneration of the optic nerve, which is usually associated with elevated intraocular pressure. The common form of adult-onset primary open-angle glaucoma is inherited as a complex trait, whereas the rarer early-onset juvenile open-angle glaucoma (JOAG) exhibits autosomal dominant inheritance. Of all cases of JOAG, approximately 10%-20% are caused by mutations in the myocilin gene. We have identified 25 pedigrees that are affected with typical JOAG and that demonstrate autosomal dominant inheritance. We sequenced the myocilin gene in probands from each family and found mutations in 8% of this population. To identify novel genes responsible for JOAG, we used families that did not have myocilin mutations for a genomewide screen. Markers located on chromosomes 9q22 and 20p12 showed evidence for linkage, identifying two novel loci for early-onset open-angle glaucoma. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 74 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2004-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosome Mapping Chromosomes, Human, Pair 20 Genetics Chromosomes, Human, Pair 9 Genome, Human Glaucoma, Open-angle Age Of Onset Cytoskeletal Proteins Eye Proteins Genetic Linkage Glycoproteins Lod Score Microsatellite Repeats Mutation Pedigree Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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