Limits to Prediction of Phenotypes from Knowledge of Genotypes

  • Andrew G. Clark
Part of the Evolutionary Biology book series (EBIO, volume 32)


The fact that natural selection acts on phenotypes but the transmission of traits to the next generation is indirectly accomplished through genes gives rise to a challenging set of problems in evolutionary Biology. In order to understand adaptive evolution, it appears to be essential to first understand how genotypes give rise to observed phenotypes, or more precisely, how variation in phenotypes is mediated by underlying variation in genotypes. As the tools of molecular genetics give an increasingly detailed view of the underlying genetic variation, one would hope that this problem would be solved by the sheer volume of genetic data. Human molecular genetics has produced many significant successes recently, particularly in identifying genes that cause Mendelian disorders. In stark contrast, chronic diseases that exhibit familial clustering but do not segregate like a Mendelian gene have been remarkably difficult to analyze genetically. The focus of this chapter is on the question, “What are the barriers to our understanding of the genetic basis for familiar clustering of chronic diseases?” We will focus on medical genetics rather than the more general problem of genotype-phenotype associations in evolutionary Biology, because knowledge of phenotypic variation is so extensive for humans and the quantity of data on genetic variation is soon going to eclipse that of all other species, if it has not already.


Quantitative Trait Locus Epistatic Interaction ApoE Genotype Quantitative Trait Locus Study Allelic Substitution 
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Copyright information

© Springer Science+Business Media New York 2000

Authors and Affiliations

  • Andrew G. Clark
    • 1
  1. 1.Institute of Molecular Evolutionary Genetics, Department of BiologyPennsylvania State UniversityUniversity ParkUSA

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