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Gene identification in common disorders: a tutorial

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Basic Techniques and Approaches

  1. Mark O. Goodarzi,
  2. Jerome I. Rotter

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g106408

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Goodarzi, M. O. and Rotter, J. I. 2005. Gene identification in common disorders: a tutorial. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:85.

Author Information

  1. Cedars-Sinai Medical Center, Los Angeles, CA, USA

Publication History

  1. Published Online: 15 JUL 2005

Abstract

The task of identifying genes that predispose to common disorders presents unique challenges because, unlike rare genetic disorders, a number of genes may contribute to a common condition, each gene with a mild/moderate effect. This necessitates the study of large cohorts of subjects and families with and without the disorder of interest. These studies must establish the inherited nature of the condition, using a precise and reproducible method of defining the disorder. Intermediate phenotypes, thought to represent the earliest stages of the condition, may also prove useful in identifying genetic determinants in those at risk, as well as to subclassify affected individuals. In the past, linkage and association studies relied heavily on the use of single nucleotide polymorphisms and microsatellites as genetic markers; currently, interest is growing in the use of haplotypes, which are collections of marker alleles inherited together on a chromosome. By providing coverage across large regions of the genome, haplotypes may increase the ability to identify genetic determinants.

Keywords:

  • common disorder;
  • heritability;
  • association;
  • linkage;
  • genome scan;
  • haplotype