Logo image
Genetic factors modifying clinical expression of autosomal dominant RP
Book chapter   Peer reviewed

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 and John R Heckenlively
Advances in experimental medicine and biology, pp.3-8
572, Springer
2006
DOI: 10.1007/0-387-32442-9_1
PMCID: PMC2581449
PMID: 17249547

View Online

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.
Humans Middle Aged Gene Expression Regulation Child, Preschool Retinitis Pigmentosa - genetics Infant Male Polymorphism, Genetic Genes, Dominant Adolescent Adult Female Models, Genetic Eye Proteins - genetics Child Infant, Newborn Genetic Linkage

Details

Logo image