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Characterization of simple sequence repeat variants linked to candidate genes for behavioral phenotypes
1Predictive Medicine Group, John Curtin School of Medical Research, Australian National University, Canberra ACT 0200, Australia. Zoe.Prichard@anu.edu.au
Human Mutation
|December 6, 2005
Summary
Simple sequence repeats (SSRs) are genetic markers that may influence human behavior. This study developed a multiplex PCR assay to genotype 15 SSR loci in 10 candidate genes, revealing potential selection at a novel DRD2 locus.
Area of Science:
- Genetics
- Behavioral Science
- Molecular Biology
Background:
- Simple sequence repeats (SSRs) are traditionally used for gene mapping and forensics.
- Emerging evidence suggests SSRs may directly influence gene expression and complex human behaviors.
Purpose of the Study:
- To investigate SSRs in candidate genes associated with human behavioral phenotypes.
- To develop an efficient method for simultaneously genotyping multiple SSR loci.
Main Methods:
- Designed a multiplex PCR assay to genotype 15 SSR loci across 10 candidate genes.
- Genotyped individuals and analyzed data for Hardy-Weinberg equilibrium and Linkage Disequilibrium.
- Performed Ewens-Watterson neutrality testing to detect potential selection.
Main Results:
- Successfully genotyped 15 SSR loci, including seven novel loci in Caucasians and five novel loci overall.
- Found no significant deviations from Hardy-Weinberg equilibrium or two-locus Linkage Disequilibrium for most loci.
- Ewens-Watterson neutrality tests suggested possible selection at a previously unreported DRD2 locus.
Conclusions:
- The developed multiplex PCR assay is an economical and efficient tool for studying SSRs in behavioral candidate genes.
- The findings highlight the potential role of SSRs in influencing complex phenotypes and suggest selection pressures on specific genes like DRD2.