Model system for linkage testing in families with autosomal dominant retinitis pigmentosa

S. P. Daiger, L. S. Sullivan, S. H. Blanton, C. A. Garcia, D. G. Birch, J. R. Heckenlively

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose. Autosomal dominant retinitis pigmentosa (adRP) is highly heterogeneous, with at least 8 causative genes and numerous possible mutations within each gene. To determine the prevalence of each genetic type, we have established testing methods to screen informative families in Texas. Methods. AdRP families are ascertained through the Southwest Eye Registry, Dallas, Texas, and through collaborating clinicians. Families must have documented evidence of RP, have three generations of affected individuals including males and females, and be sufficiently large to produce a LOD score ≥ 2.5 by simulation. One affected family member is tested for mutations in rhodopsin or peripherin/RDS; families without mutations are tested for linkage to an optimized panel of 37 markers, spanning 15 potential RP sites, including X-linked loci. Analysis involves calculation of posterior probabilities of linkage across all families using Baysian methods. Results. To date we have identified 33 Texas families meeting these criteria. Of the families tested, approximately 30% have mutations in rhodopsin or RDS. Families with adRP mapping to 7q and 8q have been observed. Two families, with 5 and 6 affected females, respectively, show X-linkage with LOD scores > 3.0. Conclusions. Sufficient adRP families exist within well-defined geographic regions to provide useful estimates of prevalence. Preliminary findings are consistent with expectations except that apparent "autosomal dominant" families may have X-linked retinopathy with affected female "carriers".

Original languageEnglish (US)
Pages (from-to)S666
JournalInvestigative Ophthalmology and Visual Science
Volume37
Issue number3
StatePublished - Feb 15 1996
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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