Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.

  title={Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.},
  author={Mary J. Seller and Joseph Behnam and Cathryn M. Lewis and Rebecca L. Johnston and Michael A. Burdon and David J. Spalton},
  journal={Journal of medical genetics},
  volume={34 12},
Dominant optic atrophy, Kjer type, is an autosomal dominant disorder causing progressive loss of visual acuity and colour vision from early childhood. The gene (OPA1) has variable expressivity, a penetrance of 0.98, and the locus has been localised to 3q28-29. We have genotyped nine British families with the disease using 12 polymorphic microsatellite markers from this region. Linkage and haplotype analysis shows the OPA1 gene to be located in a 2.3 cM interval between markers D3S1601 and… CONTINUE READING
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