Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma

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1 Scopus citations

Abstract

A gene for autosomal dominant, juvenile-onset, primary open angle glaucoma (GLC I A) has been previously mapped to Iq2I-3I in several Caucasian pedigrees. We studied two Hispanic families with this disease to determine if their disease genes also map to this region. Individuals were considered as being affected if they had IOP > 30 mmHg (without treatment) and glaucomatous optic nerve damage or visual field defects. Persons older than 40 years with intraocular pressures ≤ 2I mmHg and no evidence of optic nerve damage or visual field loss were scored as unaffected. Individuals not falling into these two categories were considered unknown. Genomic DNA was extracted from blood samples and subjected to PCR-based microsatellite marker analysis. Computer-based linkage analysis was used to determine if the disease gene mapped to chromosome Iq2I-3I. In the family from the Canary Islands, the disease gene was linked to the chromosome Iq2I-3I region previously identified by other researchers. Markers D I S2I2 and D I S2I8 produced maximum 1od scores of 3.38 and 2.99, respectively. In the family from the Balearic Islands, the disease gene was excluded from this region by genetic linkage analysis. Haplotype analysis also excluded the disease gene from chromosome Iq2I-3I. Our Hispanic families showed genetic heterogeneity with respect to autosomal dominant, juvenile-onset, primary open angle glaucoma.

Original languageEnglish (US)
Pages (from-to)87-94
Number of pages8
JournalOphthalmic Genetics
Volume17
Issue number3
DOIs
StatePublished - Sep 1996

Keywords

  • Chromosome I
  • Glaucoma
  • Linkage
  • Mapping

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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