Localization of a Locus (GLC1B) for Adult-Onset Primary Open Angle Glaucoma to the 2cen–q13 Region

Primary open angle glaucoma (GLC1) is a common ocular disorder with a characteristic degeneration of the optic nerve and visual field defects that is often associated with an elevated intraocular pressure. The severe but rare juvenile-onset type has previously been mapped to 1q21–q31, and its geneti...

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Published in:	Genomics (San Diego, Calif.) Vol. 36; no. 1; pp. 142 - 150
Main Authors:	Stoilova, Diliana, Child, Anne, Trifan, Ovidiu C., Crick, R.Pitts, Coakes, Roger L., Sarfarazi, Mansoor
Format:	Journal Article
Language:	English
Published:	San Diego, CA Elsevier Inc 15-08-1996 Elsevier
Subjects:	Age of Onset Aged Aged, 80 and over Biological and medical sciences Centromere - genetics Chromosome Mapping - methods Chromosomes, Human, Pair 2 - genetics Female Genetic Carrier Screening Genetic Heterogeneity Glaucoma and intraocular pressure Glaucoma, Open-Angle - genetics Glaucoma, Open-Angle - physiopathology Haplotypes Humans Lod Score Male Medical sciences Microsatellite Repeats - genetics Middle Aged Ophthalmology Pedigree Polymorphism, Genetic Genetic mapping Human Heterogeneity Eye disease Linkage Optic nerve Gene Genetic marker Family study Glaucoma (eye) Chromosome A2 Degeneration
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Summary:	Primary open angle glaucoma (GLC1) is a common ocular disorder with a characteristic degeneration of the optic nerve and visual field defects that is often associated with an elevated intraocular pressure. The severe but rare juvenile-onset type has previously been mapped to 1q21–q31, and its genetic heterogeneity has been established. Herein, we present a new locus (GLC1B) for one form of GLC1 on chromosome 2cen–q13 with a clinical presentation of low to moderate intraocular pressure, onset in late 40s, and a good response to medical treatment. Two-point and haplotype analyses of affected and unaffected meioses in six families provided maximum linkage information with D2S417, GATA112EO3, D2S113, D2S373, and D2S274 (lod scores ranging from 3.11 to 6.48) within a region of 8.5 cM that is flanked by D2S2161 and D2S2264. Analysis of affected meioses alone revealed no recombination with an additional two markers (D2S2264 and D2S135) in a region of 11.2 cM that is flanked by D2S2161 and D2S176. Analysis of unaffected meioses identified only one healthy 86-year-old male who has inherited the entire affected haplotype and, hence, is a gene carrier for this condition. Eight additional families with similar and/or different clinical presentation did not show any linkage to this region and, therefore, provided evidence for genetic heterogeneity of adult-onset primary open angle glaucoma.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0888-7543 1089-8646
DOI:	10.1006/geno.1996.0434