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.
CITATION STYLE
Lemmers, R. J. L. F. (2017). Analyzing copy number variation using pulsed-field gel electrophoresis: Providing a genetic diagnosis for FSHD1. In Methods in Molecular Biology (Vol. 1492, pp. 107–125). Humana Press Inc. https://doi.org/10.1007/978-1-4939-6442-0_7
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