Related Experiment Video
Updated: Oct 2, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Power of the affected-sib-pair method to defect disease susceptibility loci of small effect: an application to
Abstract:
The distribution of marker locus identity-by-descent scores in affected sib pairs provides a powerful tool for detecting the presence of a linked non-Mendelian disease susceptibility locus. This basic approach is here extended to include a trio of sibs. A special type of sib trio consisting of two affected and one unaffected sib is investigated. It is shown that compared to affected-sib-pairs, trios with the above configuration are less efficient in detecting the presence of a linked disease susceptibility locus. When the generalized two-allele single locus model is fitted to sib pairs affected with multiple sclerosis, an estimate of the recombination fraction of 0.21 between the putative disease susceptibility locus and the HLA complex is obtained. However, this transmission model is deemed inadequate since a recombination fraction this large is inconsistent with the variety of HLA associations observed at the population level.
Related Concept Videos
Genetic Lingo
Probability Laws
Pleiotropy
Sex-linked Disorders
Incomplete Dominance
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

