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The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST)
Citation
Sack, J and Healey, DL and Degraaf, AP and Wilkinson, RM and Wilkinson, CH and Barbour, JM and Coote, MA and McCartney, PJ and Rait, JL and Cooper, RL and Ring, MA and Mackey, DA, The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST), Ophthalmic Genetics, 17, (4) pp. 209-214. ISSN 0167-6784 (1996) [Refereed Article]
DOI: doi:10.3109/13816819609057895
Abstract
The Glaucoma Inheritance Study in Tasmania (GIST) is a population survey of Australia's island state, Tasmania (population 450,000). Its aim is to find families with autosomal dominant, adult-onset, primary open angle glaucoma (POAG) suitable for genetic linkage analysis. POAG is relatively common, affecting around 3% of the Australian population. By finding the large families with POAG and identifying all the descendants in a captive population, it is possible that there may be overlap of different glaucoma pedigrees. Three of the first thirteen families in the study were composed of overlapping pedigrees. In one GIST family, GTas3, there has been intermarriage with other pedigrees with glaucoma on five occasions. The possibility of multiple genotypes was also reinforced by the inability to determine a single glaucoma phenotype in this family. When finding large families of POAG for linkage analysis, researchers must be aware of the risk of affected individuals inheriting their gene from the alternate parent. Thus, the alternate parents or their families must be examined, especially if the phenotype is atypical for the rest of the family.
Item Details
Item Type: | Refereed Article |
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Research Division: | Medical and Health Sciences |
Research Group: | Clinical Sciences |
Research Field: | Medical Genetics (excl. Cancer Genetics) |
Objective Division: | Health |
Objective Group: | Clinical Health (Organs, Diseases and Abnormal Conditions) |
Objective Field: | Inherited Diseases (incl. Gene Therapy) |
UTAS Author: | McCartney, PJ (Dr Paul McCartney) |
ID Code: | 12021 |
Year Published: | 1996 |
Web of Science® Times Cited: | 23 |
Deposited By: | Surgery |
Deposited On: | 1997-08-01 |
Last Modified: | 2011-08-22 |
Downloads: | 0 |
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