Journal article

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

John H Fingert, Alan L Robin, Jennifer L Stone, Ben R Roos, Lea K Davis, Todd E Scheetz, Steve R Bennett, Thomas H Wassink, Young H Kwon, Wallace LM Alward, Robert F Mullins, Val C Sheffield, Edwin M Stone

HUMAN MOLECULAR GENETICS | OXFORD UNIV PRESS | Published : 2011

Abstract

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 polymerase chain reaction (PCR) experiments identified a 780 kbp duplication within the GLC1P locus that is co-inherited with NTG in the pedigree. Real-time PCR studies showed that the genes within this duplication [TBK1 (TANK-binding kinase 1), XPOT, RASSF3 and GNS] are all expressed in the human retina. Cohorts of 478 glaucoma patients (including 152 NTG patients), 100 normal control subjects and 40..

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