Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

• Published in: Human molecular genetics Vol. 20; no. 12; pp. 2482 - 2494
• Main Authors: Fingert, John H., Robin, Alan L., Stone, Jennifer L., Roos, Ben R., Davis, Lea K., Scheetz, Todd E., Bennett, Steve R., Wassink, Thomas H., Kwon, Young H., Alward, Wallace L.M., Mullins, Robert F., Sheffield, Val C., Stone, Edwin M.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.06.2011
• Subjects: Association Studies; Biological and medical sciences; Black or African American; Blotting, Northern; Chromosome Duplication - genetics; Chromosomes, Human, Pair 12 - genetics; Cohort Studies; Comparative Genomic Hybridization; DNA Copy Number Variations - genetics; Fundamental and applied biological sciences. Psychology; Genetic Linkage - genetics; Genetics of eukaryotes. Biological and molecular evolution; Glaucoma and intraocular pressure; Humans; Low Tension Glaucoma - genetics; Medical sciences; Microarray Analysis; Molecular and cellular biology; Ophthalmology; Pedigree; Polymerase Chain Reaction; Protein Serine-Threonine Kinases - genetics; Protein Serine-Threonine Kinases - metabolism; Glaucoma; Human; Protozoa; Eye disease; Copy number variation; Glaucoma (eye); Genetics; Ciliata; Chromosome C12; Normal

We report identification of a novel genetic locus (GLC1P) for normal tension glaucoma (NTG) on chromosome 12q14 using linkage studies of an African-American pedigree (maximum non-parametric linkage score = 19.7, max LOD score = 2.7). Subsequent comparative genomic hybridization and quantitative poly...