Related Experiment Video
Updated: Aug 20, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Variation in recombination rate may bias human genetic disease mapping studies
A Susannah Boyle1, Mohamed A F Noor
1Department of Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, USA.
Abstract:
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.
More Related Videos
10:08Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
Published on: August 12, 2019
06:18Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR
Published on: July 11, 2025
Related Concept Videos
Gene Conversion
Gene Conversion
Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair
Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...