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        CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel

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        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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