Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes

Sara L. F Sunden; Wallace L M Alward; Brian E Nichols; Tanya R Rokhlina; Arne Nystuen; Edwin M Stone; Val C Sheffield

doi:10.1101/gr.6.9.862

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Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes

Journal article

Open access

Peer reviewed

Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes

Sara L. F Sunden, Wallace L M Alward, Brian E Nichols, Tanya R Rokhlina, Arne Nystuen, Edwin M Stone and Val C Sheffield

Genome research, Vol.6(9), pp.862-869

09/1996

DOI: 10.1101/gr.6.9.862

PMID: 8889553

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Abstract

Juvenile Open Angle Glaucoma (GLC1A) is an autosomal optic neuropathy that has been localized previously to chromosome 1q. Here we report the fine mapping of the disease region using YACs and a high density of polymorphic microsatellite markers. This study utilized two large JOAG pedigrees genotyped at 36 loci from chromosome 1q21-q31 to refine the GLC1A locus to a approximately 3-cM region flanked by YAC-derived microsatellite markers D1S3665 and D1S3664. The candidate genes LAMC1, NPR1, and CNR2 were excluded from the region by linkage. Four other genes, SELE, SELL, TXGP1, and APT1LG1, were determined to lie within the critical region through YAC content and linkage mapping. The YAC-STS content map of the critical region provides the groundwork for the construction of a transcription map and the identification of the disease-causing gene.

Genetic Markers

Polymerase Chain Reaction

Chromosomes, Artificial, Yeast

Glaucoma, Open-Angle - genetics

Humans

Molecular Sequence Data

Male

Chromosome Mapping

DNA Primers

Polymorphism, Genetic

Polymorphism, Single-Stranded Conformational

Chromosomes, Human, Pair 1

Pedigree

Female

Child

Microsatellite Repeats

Genetic Linkage

Details

Title: Subtitle: Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes
Creators: Sara L. F Sunden - Department of Pediatrics, University of lowa College of Medicine, lowa City 52242, USA
Wallace L M Alward
Brian E Nichols
Tanya R Rokhlina
Arne Nystuen
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: Genome research, Vol.6(9), pp.862-869
DOI: 10.1101/gr.6.9.862
PMID: 8889553
NLM abbreviation: Genome Res
ISSN: 1088-9051
eISSN: 1549-5469
Publisher: United States
Grant note: HG00457 / NHGRI NIH HHS EY10564 / NEI NIH HHS EY10539 / NEI NIH HHS
Language: English
Date published: 09/1996
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980015202771

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