Journal article
Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma
Ophthalmology (Rochester, Minn.), Vol.103(7), pp.1035-1040
07/1996
DOI: 10.1016/S0161-6420(96)30570-8
PMID: 8684791
Abstract
To determine whether an adult-onset variety of primary open-angle glaucoma in family UM:POAG1 is linked to the previously mapped GLC1A juvenile-onset primary open-angle glaucoma locus on chromosome 1q or whether linkage can be excluded. Microsatellite repeat markers from the 9 cM D1S196 to D1S218 interval containing the GLC1A gene were amplified by polymerase chain reaction from DNA samples collected from 11 members of one sibship in family UM:POAG1. Haplotype analysis was carried out, including calculation of the probability that the observed data would have been obtained if the underlying cause of primary open-angle glaucoma in this family were a defect in a gene located in the tested interval. Linkage analysis was carried out under an autosomal dominant model for GLC1A glaucoma. In family UM:POAG1, primary open-angle glaucoma was diagnosed in six surviving and one deceased member of a sibship of 13 individuals during the fifth or sixth decade of life. Glaucoma in this family has a later average age at diagnosis and significantly less elevation in intraocular pressure than GLC1A glaucoma so far described. Haplotype analysis, using a population prevalence up to 0.9%, shows that it is unlikely that the reported data would have been observed if primary open-angle glaucoma in this pedigree were due to the GLC1A locus on chromosome 1q21-q31. Linkage analysis under the juvenile glaucoma autosomal dominant model allowed exclusion of linkage across the entire GLC1A genetic inclusion interval, with a maximum lod score in the interval of -3.28. The most likely interpretation of these observations is that a defect in the GLC1A glaucoma gene is not responsible for adult-onset primary open-angle glaucoma in family UM:POAG1. This suggests the existence of at least two primary open-angle glaucoma genes, the previously reported GLC1A gene on chromosome 1q and another gene located elsewhere in the genome. Diagnosis of UM:POAG1 glaucoma between 42 and 57 years of age also raises questions regarding the relation of the glaucoma present in this family to the common later-age-onset form of the disease.
Details
- Title: Subtitle
- Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma
- Creators
- Julia E Richards - Department of Ophthalmology, University of Michigan, Ann Arbor, USAPaul R LichterSarah HermanElizabeth R HauserYu-Chih HouA Tim JohnsonMichael Boehnke
- Resource Type
- Journal article
- Publication Details
- Ophthalmology (Rochester, Minn.), Vol.103(7), pp.1035-1040
- Publisher
- United States
- DOI
- 10.1016/S0161-6420(96)30570-8
- PMID
- 8684791
- ISSN
- 0161-6420
- eISSN
- 1549-4713
- Grant note
- EY09580 / NEI NIH HHS EY07003 / NEI NIH HHS
- Language
- English
- Date published
- 07/1996
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9983980020802771
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