Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma

Darrell WuDunn, Richard K. Parrish, George Inana

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

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Genetic Heterogeneity
Hispanic Americans
Glaucoma
Chromosomes
Genes
Optic Nerve
Visual Fields
Spain
Dominant Genes
Genetic Linkage
Pedigree
Intraocular Pressure
Microsatellite Repeats
Haplotypes
Research Personnel
Polymerase Chain Reaction
DNA

Keywords

  • Chromosome I
  • Glaucoma
  • Linkage
  • Mapping

ASJC Scopus subject areas

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

Cite this

Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma. / WuDunn, Darrell; Parrish, Richard K.; Inana, George.

In: Ophthalmic Genetics, Vol. 17, No. 3, 09.1996, p. 87-94.

Research output: Contribution to journalArticle

WuDunn, D, Parrish, RK & Inana, G 1996, 'Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma', Ophthalmic Genetics, vol. 17, no. 3, pp. 87-94.
WuDunn, Darrell ; Parrish, Richard K. ; Inana, George. / Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma. In: Ophthalmic Genetics. 1996 ; Vol. 17, No. 3. pp. 87-94.
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