Genetic Factors Modifying Clinical Expression of Autosomal Dominant RP

  • Stephen P. Daiger
  • Suma P. Shankar
  • Alice B. Schindler
  • Lori S. Sullivan
  • Sara J. Bowne
  • Terri M. King
  • E. Warick Daw
  • Edwin M. Stone
  • John R. Heckenlively
Part of the Advances in Experimental Medicine and Biology book series (volume 572)

Abstract

Factors modifying clinical expression of inherited diseases are likely to be complex, involving genetic factors, environmental factors and stochastic effects. One way to reduce the complexity is to focus on individuals who share a dominant mutation identical by descent, thus eliminating variability in the underlying mutation and variation in cis to the mutation. A further simplification is to limit analysis to a single, extended family, which may reduce, though not eliminate, environmental effects.

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Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Stephen P. Daiger
    • 1
  • Suma P. Shankar
    • 1
  • Alice B. Schindler
    • 1
  • Lori S. Sullivan
    • 1
  • Sara J. Bowne
    • 1
  • Terri M. King
    • 2
  • E. Warick Daw
    • 3
  • Edwin M. Stone
    • 4
  • John R. Heckenlively
    • 5
  1. 1.Human Genetics Ctr and Dept. of OphthalmologyUniv. of TexasHoustonUSA
  2. 2.Dept. of Internal MedicineUniv. of TexasHoustonUSA
  3. 3.Dept. of EpidemiologyUniv. of Texas MD Anderson Cancer CenterHoustonUSA
  4. 4.Dept. of OphthalmologyUniv. of IowaUSA
  5. 5.Kellogg Eye CtrUniv. of MichiganAnn ArborUSA

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