Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes.

Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Research Abstract Details 

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Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Abstract Text:

PURPOSE: Primary open-angle glaucoma is a leading cause of blindness worldwide. We previously identified a region on chromosome 20p12 associated with juvenile-onset primary open-angle glaucoma (JOAG) that was designated GLC1K. The aim of this study is to refine the boundaries of the GLC1K region and to screen selected candidate genes located within the refined region for biologically significant mutations. METHODS: Four JOAG families (44 individuals) with linkage to GLC1K were used for this study. Informative single nucleotide polymorphism (SNP) markers located throughout the previously defined region were used for haplotype analysis. Four candidate genes within the refined region were screened for biologically significant mutations using direct genomic sequencing: bone morphogenetic protein 2 (BMP2); phospholipase C beta 1 (PLCB1); phospholipase C beta 4 (PLCB4); and BTB POZ domain containing 3 (BTBD3). RESULTS: Haplotype analysis identified a new critical interval of 12.7 Mb using a combination of SNPs and microsatellite markers. This analysis extended the region of GLC1K from D20S846 to rs6081603 in affected individuals, and the region was further reduced to 9 Mb if unaffected recombinant individuals were included in the analysis. Biologically significant DNA sequence variants were not identified in the BMP2, PLCB1, PLCB4, or BTBD3 genes in these families. CONCLUSIONS: Using recombinant breakpoint mapping and haplotypes based on a combination of SNP and microsatellite markers, the GLC1K region has been reduced to a maximum of 12.7 Mb and a minimum of 9 Mb. Four genes that are located within the refined region with attractive ocular expression and function have been excluded as causative genes for JOAG.

Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Publishing Authors By Initials

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Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Molecular vision

VOLUME: 14

Page Numbers: 1319-26

Journal Abbreviation: Mol. Vis.

ISSN: 1090-0535

DAY: 21

MONTH: 07

YEAR: 2008

Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Information

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LANGUAGE: eng

NlmUniqueID: 9605351

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Grant and Affiliation Information for Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes.

AFFILIATION: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

Country: United States

AGENCY: United States Howard Hugh

GRANT: R01EY009847

ACRONYM: EY

MEDLINETA: Mol Vis

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