Heterogeneidade genética em atrofia óptica autossômica dominante

Translated title of the contribution: Genetic heterogeneity in autosomal dominant optic atrophy

Juliana Maria Ferraz Sallum, Michel Eid Farah, Irene Hussels Maumenee

Research output: Contribution to journalArticle

Abstract

Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM interval in chromosome 3q28-29 between markers D3S3669 and D3S3562. One family was mapped to chromosome 18q12.2-12.3. Linkage analysis in three families with autosomal dominant optic atrophy with polymorphic DNA markers for chromosome 3q28-29 and 18q12.2-12.3. Methods: 57 individuals from three families underwent ophthalmological examination. Genomic DNA was extracted from blood samples. Linkage analysis was performed between the disease and 11 polymorphic markers around 3q28-qter and 18q12.2-12.3. Polymerase chain reaction (PCR) fragments sizes were identified in a scanner gel using a 373 DNA sequencer. These numbers were used as alleles for pedigree analysis. The lod scores were calculated using the MLINK program. Results: All three families presented optic atrophy with autosomal dominant pattern of inheritance, variable expression and high penetrance. Two families were linked to 3q28-29 markers. A maximal lod score of 3.56, at a recombination fraction of zero, was obtained using the marker D3S3669 in one family. The linkage area was defined in a 2 cM interval by haplotype analysis between markers D3S2418 and D3S1305, because patients III.4 and III.14 showed crossing-overs. The third family was not linked to 3q28-29 neither to 18q12.2-12.3. Conclusions: There is genetic heterogeneity in autosomal dominant optic atrophy, because the third family did not map to any known locus. And a third locus for this disease may exist.

Original languagePortuguese
Pages (from-to)419-426
Number of pages8
JournalArquivos Brasileiros de Oftalmologia
Volume65
Issue number4
StatePublished - 2002

Fingerprint

Autosomal Dominant Optic Atrophy
Genetic Heterogeneity
Lod Score
Chromosomes
Pallor
Inheritance Patterns
Color Vision
Optic Nerve Diseases
Penetrance
DNA
Optic Disk
Pedigree
Visual Fields
Genetic Markers
Haplotypes
Genetic Recombination
Gels
Alleles

Keywords

  • Autosomal dominant optic atrophy/genetics
  • Color vision defects
  • Linkage (Genetics)
  • Visual acuity
  • Visual fields

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Sallum, J. M. F., Farah, M. E., & Maumenee, I. H. (2002). Heterogeneidade genética em atrofia óptica autossômica dominante. Arquivos Brasileiros de Oftalmologia, 65(4), 419-426.

Heterogeneidade genética em atrofia óptica autossômica dominante. / Sallum, Juliana Maria Ferraz; Farah, Michel Eid; Maumenee, Irene Hussels.

In: Arquivos Brasileiros de Oftalmologia, Vol. 65, No. 4, 2002, p. 419-426.

Research output: Contribution to journalArticle

Sallum, JMF, Farah, ME & Maumenee, IH 2002, 'Heterogeneidade genética em atrofia óptica autossômica dominante', Arquivos Brasileiros de Oftalmologia, vol. 65, no. 4, pp. 419-426.
Sallum, Juliana Maria Ferraz ; Farah, Michel Eid ; Maumenee, Irene Hussels. / Heterogeneidade genética em atrofia óptica autossômica dominante. In: Arquivos Brasileiros de Oftalmologia. 2002 ; Vol. 65, No. 4. pp. 419-426.
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