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Cytogenetics: Methodologies

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Molecular Pathology in Cancer Research

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Abstract

Genetic disorders can be associated with DNA changes which range from whole chromosome aneuploidies to single nucleotide sequence variations. Detection of these different genetic abnormalities requires different laboratory techniques. In this chapter, we shall discuss the principles behind cytogenetic methodologies, including conventional karyotyping, fluorescence in situ hybridisation (FISH), and microarray copy number analyses. We shall also briefly discuss the principles behind some commonly used molecular genetic techniques including direct DNA sequencing, multiplex ligation-dependent probe amplification, Southern blot, PCR fragment sizing, real-time PCR, and massively parallel sequencing.

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Authors and Affiliations

  1. SEALS Genetics, NSW Health Pathology, Level 4 Campus Centre, Prince of Wales Hospital, Randwick, NSW, 2031, Australia

    Chiyan Lau

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  1. Chiyan Lau
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Correspondence to Chiyan Lau .

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Editors and Affiliations

  1. UQ Centre for Clinical Research, The Royal Brisbane and Women’s Hospital, University of Queensland and Pathology Queensland, Brisbane, Queensland, Australia

    Sunil R. Lakhani

  2. Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia

    Stephen B. Fox

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Lau, C. (2016). Cytogenetics: Methodologies. In: Lakhani, S., Fox, S. (eds) Molecular Pathology in Cancer Research. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-6643-1_3

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