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genetics explained

Genetics explained

You are here: Home / What is Duchenne? / Duchenne Explained / Genetics explained

Duchenne is a genetic condition. This means the condition is caused by genetic mutations – alterations or changes – in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene.

This short video with Dr Annemieke Aartsma-Rus gives an overview of genetics and genetic diagnosis in Duchenne .

Duchenne can be caused by different types of mutation in the dystrophin gene and it’s important to find out what type of mutation is causing the condition. You can use the animation below to find out more about different types of animation.

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Explore The Mutations
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Deletion
Deletions are the most common form of mutation in Duchenne. A deletion part of the dystrophin gene (called exons) are missing. Deltions can vary in size from one exon to many. As there are 79 exons, many different deletions can happen. Around 60-70% of cases are caused by Deletions.  Click to find out more.
Nonsense 
A nonsense mutation casuses something called a premature stop signal in the dystrophin gene. This is a signal that tells the cell to stop reading the genetic code, instead of reading to the end of the gene. Nonsense mutations are a special type of point mutation. Around 10-15% of cases are caused by Nonsense mutations. Click to find out more. 
Other
Some rare mutations are harder to  characterise. These might affect the genetic switch (so cells can’t turn on the dystophin gene) or they might affect the signals that tell a cell how to join the exons of the gene together. These mutations are very rare. Click to find out more.

If you want to know more about the genetics of Duchenne and how it might affect your family there’s lots more information in the FAQs below. If you have a question we haven’t answered, please call us now on 07535498506 or email info@actionduchenne.org.

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