Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3

P McWilliam, G J Farrar, P Kenna, D G Bradley, M M Humphries, E M Sharp, D J McConnell, M Lawler, D Sheils, C Ryan, Mark Lawler

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Abstract

Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

Original languageEnglish
Pages (from-to)619-22
Number of pages4
JournalGenomics
Volume5
Issue number3
Publication statusPublished - Oct 1989

Keywords

  • Chromosome Mapping
  • Chromosomes, Human, Pair 3
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Recombination, Genetic
  • Retinitis Pigmentosa

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    McWilliam, P., Farrar, G. J., Kenna, P., Bradley, D. G., Humphries, M. M., Sharp, E. M., McConnell, D. J., Lawler, M., Sheils, D., Ryan, C., & Lawler, M. (1989). Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics, 5(3), 619-22.