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Research Article
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
  1. L L Field,
  2. J R Heckenlively,
  3. R S Sparkes,
  4. C A Garcia,
  5. C Farson,
  6. D Zedalis,
  7. M C Sparkes,
  8. M Crist,
  9. S Tideman,
  10. M A Spence

    Abstract

    Five pedigrees (including an expanded version of a previously reported pedigree) exhibited typical autosomal dominant retinitis pigmentosa were analysed for linkage of RP to 29 genetic markers. No significant lod scores resulted. The largest lod score is +1.51 and suggests linkage between RP and Rh blood group at an estimated recombination fraction of 20% in males and 40% in females. Further studies are needed to confirm or refute this suggested linkage.

    https://doi.org/10.1136/jmg.19.4.266

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