title: The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST).
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.
authors.affiliation: Department of Ophthalmology, University of Melbourne, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Sack
authors.forename: D L
authors.initials: DL
authors.lastname: Healey
authors.forename: A P
authors.initials: AP
authors.lastname: de Graaf
authors.forename: R M
authors.initials: RM
authors.lastname: Wilkinson
authors.forename: C H
authors.initials: CH
authors.lastname: Wilkinson
authors.forename: J M
authors.initials: JM
authors.lastname: Barbour
authors.forename: M A
authors.initials: MA
authors.lastname: Coote
authors.forename: P J
authors.initials: PJ
authors.lastname: McCartney
authors.forename: J L
authors.initials: JL
authors.lastname: Rait
authors.forename: R L
authors.initials: RL
authors.lastname: Cooper
authors.forename: M A
authors.initials: MA
authors.lastname: Ring
authors.forename: D A
authors.initials: DA
authors.lastname: Mackey
mesh_terms: D000328:Adult; D017668:Age of Onset; D001315:Australia / Q000453:epidemiology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011795:Surveys and Questionnaires