Beyond Mendel: an evolving view of human genetic disease transmission.


Journal Article (Review)

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.

Full Text

Cited Authors

  • Badano, JL; Katsanis, N

Published Date

  • October 2002

Published In

Volume / Issue

  • 3 / 10

Start / End Page

  • 779 - 789

PubMed ID

  • 12360236

Pubmed Central ID

  • 12360236

International Standard Serial Number (ISSN)

  • 1471-0056

Digital Object Identifier (DOI)

  • 10.1038/nrg910


  • eng

Conference Location

  • England