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How do genetic variants cause disease?

Holding Text

This video uses a cake-baking analogy to describe the location of DNA in the cell, how we get from DNA to protein and what happens when there is a mutation.

When a variation in the DNA causes a disease, such as monogenic diabetes, it is called a mutation. The result of a mutation is generally either an alteration in the structure of the protein produced, or no functional protein product at all. The table below describes the main types of genetic mutation that cause monogenic disease, including the change in the DNA (shown in red in the DNA sequence) and how that DNA change affects the protein produced.

Main types of genetic mutation that cause monogenic disease

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Genomic Medicine: Transforming Patient Care in Diabetes

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