Purchase this article with an account.
R.A. Perez–Grossmann, M.L. Guevara–Fujita, C. Murga–Zamalloa, W. Castillo–Herrera, J.E. Richards, R. Fujita; A Novel Locus for Glaucoma Is Suggested By Genetic Exclusion of the Six POAG Loci in a Three–Generation Peruvian Family . Invest. Ophthalmol. Vis. Sci. 2005;46(13):40.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: To characterize at the genetic and molecular level a three–generation glaucoma family from Peru. Methods: We studied a three–generation glaucoma family with 12 affected individuals (10 alive) having high intraocular pressure, and several age–matched normal relatives from south of Lima, Perú. After proper informed consent, blood samples were collected and the DNA was extracted. PCR was performed for flanking and internal markers microsatellite markers from the six known glaucoma loci that harbour genes for POAG. The resulting haplotypes were inspected to establish cosegregation. On the other hand, patient DNA samples were sequenced for the 2 identified POAG genes (TIGR/MYOC and OPTN). Results: Microsatellite analyses revealed recombination for all marker of the the six POAG loci. Sequencing of the two POAG genes revealed no causative mutation in affected members of the family. Conclusions: This Peruvian three–generation POAG family, carry a novel gene for glaucoma, different from the six previously known loci.
This PDF is available to Subscribers Only