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Microsatellite markers for linkage and association studies.

Jeffrey Gulcher

Cold Spring Harbor Protocols

|April 5, 2012

Summary

Microsatellites, or short tandem repeats, are valuable genetic markers for human genetics research. Despite the rise of single-nucleotide polymorphism (SNP) platforms, microsatellites offer unique advantages in genetic diversity and haplotype analysis.

Area of Science:

Human Genetics
Molecular Biology
Genomics

Background:

Microsatellites (short tandem repeats) were foundational genetic markers for human genetics studies in the 1990s and early 2000s.
The advent of single-nucleotide polymorphism (SNP) platforms shifted the focus of genome-wide scans due to higher throughput and cost-effectiveness.

Purpose of the Study:

To highlight the enduring utility and advantages of microsatellites in genetic variation studies.
To emphasize the complementary role of microsatellites alongside SNPs in linkage and association studies.
To discuss experimental approaches for utilizing microsatellites.

Main Methods:

Review of microsatellite applications in human genetics research.
Comparison of microsatellites with single-nucleotide polymorphisms (SNPs).

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Discussion of microsatellite-based discoveries in association studies.

Main Results:

Microsatellites provide greater allelic diversity compared to biallelic SNPs.
Microsatellite variation can increase haplotype diversity, aiding in the fine-mapping of genetic regions.
Microsatellites have been instrumental in identifying genes for type 2 diabetes (TCF7L2) and prostate cancer (8q21 region).

Conclusions:

Microsatellites remain highly informative and essential tools for linkage and association studies in human genetics.
The unique properties of microsatellites complement SNPs, enhancing the cataloging of all genetic variations.
Comprehensive cataloging of all genetic variations, including microsatellites, is crucial for future human genetic studies.