Journal article
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq
American journal of human genetics, Vol.54(1), pp.62-70
01/1994
PMCID: PMC1918066
PMID: 8279471
Abstract
A large Caucasian family is presented, in which a juvenile-onset form of open-angle glaucoma is transmitted in an autosomal dominant fashion. Sixteen affected family members were identified from 31 at-risk individuals descended from the affected founder. Affected patients developed high intraocular pressures (sometimes > 40 mm Hg) within the first 2 decades of life. Linkage analysis between the disease phenotype and 12 microsatellite repeat markers located on chromosome 1q gave a maximum lod score of 8.38 at a recombination fraction of zero for marker D1S210. Analysis of recombinant haplotypes suggests a total inclusion region of about 14 cM between markers D1S194 and D1S218 at 1q21-q31. This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1.
Details
- Title: Subtitle
- Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq
- Creators
- J E Richards - Department of Ophthalmology, University of Michigan, Ann Arbor 48105P R LichterM BoehnkeJ L UroD TorrezD WongA T Johnson
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.54(1), pp.62-70
- Publisher
- United States
- PMID
- 8279471
- PMCID
- PMC1918066
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Grant note
- P30 HG00209 / NHGRI NIH HHS EY09580 / NEI NIH HHS EY07003 / NEI NIH HHS
- Language
- English
- Date published
- 01/1994
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9983980386002771
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