Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4)

R Kumar-Singh, D G Bradley, G J Farrar, M Lawler, S A Jordan, P Humphries, Mark Lawler

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8 Citations (Scopus)

Abstract

We report the characterization of a new eight-allele microsatellite (D3S621) isolated from a human chromosome 3 library. Two-point and multi-locus genetic linkage analysis have shown D3S621 to co-segregate with the previously mapped RP4 (theta m = 0.12, Zm = 4.34) and with other genetic markers on the long arm of the chromosome, including D3S14 (R208) (theta m = 0.00, Zm = 15.10), D3S47 (C17) (theta m = 0.11, Zm = 4.95), Rho (theta m = 0.07, Zm = 1.37), D3S21 (L182) (theta m = 0.07, Zm = 2.40) and D3S19 (U1) (theta m = 0.13, Zm = 2.78). This highly informative marker, with a polymorphic information content of 0.78, should be of considerable value in the extension of linkage data for autosomal dominant retinitis pigmentosa with respect to locii on the long arm of chromosome 3.

Original languageEnglish
Pages (from-to)502-4
Number of pages3
JournalHuman genetics
Volume86
Issue number5
Publication statusPublished - Mar 1991

Keywords

  • Alleles
  • Base Sequence
  • DNA, Satellite
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Retinitis Pigmentosa

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