Review
Nature Reviews Genetics 3, 779-789 (October 2002) | doi:10.1038/nrg910
Subject Category: Human genetics and disease
Focus on: Human Genetics and Diseases
Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission
Jose L. Badano1 & Nicholas Katsanis1,2 About the authors
Abstract
Methodological and conceptual advances in human genetics have led to the identification of an impressive number of human disease genes. This wealth of information has also revealed that the traditional distinction between Mendelian and complex disorders might sometimes be blurred. Genetic and mutational data on an increasing number of disorders have illustrated how phenotypic effects can result from the combined action of alleles in many genes. In this review, we discuss how an improved understanding of the genetic basis of multilocus inheritance is catalysing the transition from a segmented view of human genetic disease to a conceptual continuum between Mendelian and complex traits.
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Author affiliations
- Institute of Genetic Medicine, Johns Hopkins University, 2–127 Jefferson Street Building, Baltimore, Maryland 21287, USA.
- Wilmer Eye Institute, 600 North Wolfe Street, Baltimore, Maryland 21287, USA.
Correspondence to: Nicholas Katsanis1,2 Email: katsanis@jhmi.edu
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