Simulation Study Investigating Nonrandom Recombination Events on Single Point LOD Scores

• Activity Number: 293
• Type: Contributed
• Date/Time: Tuesday, August 8, 2006 : 10:30 AM to 12:20 PM
• Sponsor: General Methodology
• Author(s): Derek Blankenship*+
• Companies: The University of Oklahoma Health Sciences Center
• Keywords: linkage analysis ; recombination fraction ; simulation ; genetics ; LOD score

Abstract

Statistical techniques make linking human traits to loci possible. Stat procedures benefit from recombination (RC) of chromosomes during meiosis, typically assumed to occur at random. However, there are known "hot/cold" spots where RC is not random. We implemented a simulation study to investigate effects of nonrandom recombination on LOD scores. We demonstrate a simulation of an autosomal dominant trait on a chromosome containing 10 loci, equidistant with a recombination fraction (RF) of 0.11 using SAS. There were 100,000 replicates of 6 families with 4 offspring and varying RF up to 100% and down to 99% for each location. As expected, the amount of change in LOD scores and RF is a function of location and magnitude of non-randomness of the "hot/cold" spot. The "hot/cold" spot had to be between the marker and trait locus and differences increased with magnitude of non-randomness.