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Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1

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Genotyping

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1492))

Abstract

The myopathy facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by copy number variation of the D4Z4 macrosatellite repeat on chromosome 4. In unaffected individuals the number of 3.3 kb D4Z4 units varies between 8 and 100, whereas 1–10 units are seen in FSHD1 cases. A homologous and heterogenous D4Z4 array can be found on chromosome 10q, but contractions of this array are typically not associated with FSHD. Discriminating between the chromosome 4 and chromosome 10 D4Z4 arrays, as well as determining the array size, requires the use of pulsed-field gel electrophoresis, Southern blotting, and the isolation of high-quality DNA.

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Acknowledgement

Patrick van der Vliet and Silvère van der Maarel for critical reading.

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Authors and Affiliations

  1. Department of Human Genetics, Leiden University Medical Center, 2333, ZA, Leiden, The Netherlands

    Richard J. L. F. Lemmers

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  1. Richard J. L. F. Lemmers
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Correspondence to Richard J. L. F. Lemmers .

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Editors and Affiliations

  1. Leiden Genome Technology Center Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

    Stefan J. White

  2. Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA

    Stuart Cantsilieris

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Lemmers, R.J.L.F. (2017). Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1. In: White, S., Cantsilieris, S. (eds) Genotyping. Methods in Molecular Biology, vol 1492. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-6442-0_7

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  • DOI: https://doi.org/10.1007/978-1-4939-6442-0_7

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-6440-6

  • Online ISBN: 978-1-4939-6442-0

  • eBook Packages: Springer Protocols

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