Standard Article

Human Genetic Variation and Disease

Nucleic Acids

  1. Lynn B. Jorde

Published Online: 15 SEP 2006

DOI: 10.1002/3527600906.mcb.200400038

Reviews in Cell Biology and Molecular Medicine

Reviews in Cell Biology and Molecular Medicine

How to Cite

Jorde, L. B. 2006. Human Genetic Variation and Disease. Reviews in Cell Biology and Molecular Medicine. .

Author Information

  1. University of Utah Health Sciences Center, Salt Lake City, Utah, USA

Publication History

  1. Published Online: 15 SEP 2006

Abstract

Variation in the prevalence of genetic diseases results from the action of the evolutionary processes of mutation, natural selection, genetic drift, and gene flow. Genetic markers can be studied in populations to help determine the ways in which these processes interact to influence disease prevalence. This enhances our understanding of the origins and evolution of genetic diseases. This article will review the ways in which genetic markers are used to study disease variation in populations, using specific genetic diseases as examples.

Keywords:

  • Fitness;
  • Genetic Drift;
  • Haplotype;
  • Heterozygote Advantage;
  • Natural Selection;
  • Polymorphism