Variation in recombination rate may bias human genetic disease mapping studies.

Journal Article (Journal Article)

The availability of the human genome sequence and variability information (as from the International HapMap project) will enhance our ability to map genetic disorders and choose targets for therapeutic intervention. However, several factors, such as regional variation in recombination rate, can bias conclusions from genetic mapping studies. Here, we examine the impact of regional variation in recombination rate across the human genome. Through computer simulations and literature surveys, we conclude that genetic disorders have been mapped to regions of low recombination more often than expected if such diseases were randomly distributed across the genome. This concentration in low recombination regions may be an artifact, and disorders appearing to be caused by a few genes of large effect may be polygenic. Future genetic mapping studies should be conscious of this potential complication by noting the regional recombination rate of regions implicated in diseases.

Full Text

Duke Authors

Cited Authors

  • Boyle, AS; Noor, MAF

Published Date

  • November 2004

Published In

Volume / Issue

  • 122 / 3

Start / End Page

  • 245 - 252

PubMed ID

  • 15609547

Electronic International Standard Serial Number (EISSN)

  • 1573-6857

International Standard Serial Number (ISSN)

  • 0016-6707

Digital Object Identifier (DOI)

  • 10.1007/s10709-004-1703-6


  • eng