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Microsatellite Genotyping

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Molecular Genetic Epidemiology — A Laboratory Perspective

Part of the book series: Principles and Practice ((PRINCIPLES))

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Abstract

Microsatellite genotyping has been widely used in the scientific community and has been the method of choice for many recent linkage analysis studies, especially genome scans designed to identify genes underlying common diseases (Ghosh et al. 1999; Risch et al. 1999; Xu et al. 1999). Microsatellite markers are simple sequence repeats consisting of repetitions of very short nucleotide motifs (usually 1–5 nucleotides) and can occur in perfect repetition, as interrupted repeats or together with another repeat type. Markers are categorized by the type of repeat motif and the most commonly used markers for human studies are dinucleotide repeats (often referred to as CA-repeats) which show a repeat pattern of two nucleotides. Other frequently used markers include tri- and tetranucleotide repeats. Microsatellite repeats (also known as simple sequence repeats) have been shown to be very abundant and highly polymorphic in many eukaryotic genomes (Litt and Luty 1989; Tautz 1989; Weber and May 1989). Simple sequence repeats are analyzed by polymerase chain reaction (PCR) amplification of a short genomic region containing the entire repeated sequence, followed by size determination of the repeat length by gel separation. All of the microsatellite markers described here for use in genotyping are easy to work with. More importantly for linkage studies, microsatellite markers have the highest level of informativeness amongst all available markers. New micro satellite markers are easy to identify by cloning directly from genomic DNA and are available abundantly throughout the genome.

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  1. Exelixis Pharmaceuticals, Inc., 170 Harbor Way, P.O. Box 511, South San Francisco, California, 94083-0511, USA

    Cheni Kwok

  2. Exelixis Pharmaceuticals, Inc., 260 Littlefield Avenue, South San Francisco, California, 94080, USA

    Karin Schmitt

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  1. Cheni Kwok
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  1. Human Genetics Research Division Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton, SO 16 6YD, UK

    Ian N. M. Day

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Kwok, C., Schmitt, K. (2002). Microsatellite Genotyping. In: Day, I.N.M. (eds) Molecular Genetic Epidemiology — A Laboratory Perspective. Principles and Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56207-5_3

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  • DOI: https://doi.org/10.1007/978-3-642-56207-5_3

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