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Updated: Oct 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Systematic search for disease loci for complex genetic traits: a study based on simulated population data
1Lindsley F. Kimball Research Institute, New York Blood Center, New York 10021, USA.
Abstract:
Simulated family data were analyzed using one- and two-locus disease models to detect linkage. Regions of interest, found on chromosomes 3 and 5, were then further analyzed to look for evidence of locus interaction and/or genetic heterogeneity. Methods described by Falk [1993] were used to separate families into subsets likely to be genetically homogeneous. Based on the results, it was concluded that there were at least two distinct disease loci, one on chromosome 3 and one on chromosome 5, and that these loci were probably not interacting but were expressing two distinct forms of the disease. The identification of these loci was in agreement with the generating model. However, the analysis did not show any indication of a two-locus form of the disease or detect a disease locus on chromosome 1. This could be due to lack of power and/or too small a sample size for the method of analysis.
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