Abstract
Mutation detection in an integral part of disease diagnosis and patient study. For most Mendelian diseases, multiple mutations may be found in a single gene among a patient population. The type of mutations may vary from large deletions to single-base-pair (bp) substitutions, and different diseases may have different predominant types. For example, large deletions are often found in Duchenne muscular dystrophy (1) and truncation mutation is the predominant type in BRCA1-associated breast cancer (2). Therefore, different mutation detection strategies are required for different diseases.
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Zielenski, J., Aznarez, I., Onay, T., Tzounzouris, J., Markiewicz, D., Tsui, LC. (2002). CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel. In: Skach, W.R. (eds) Cystic Fibrosis Methods and Protocols. Methods in Molecular Medicine™, vol 70. Humana Press. https://doi.org/10.1385/1-59259-187-6:03
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DOI: https://doi.org/10.1385/1-59259-187-6:03
Publisher Name: Humana Press
Print ISBN: 978-0-89603-897-4
Online ISBN: 978-1-59259-187-9
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