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Why genes matter

Genes exist inside all the cells that make up your body. They contain genetic code (DNA) and provide instructions for constructing proteins, which are the building blocks of our bodies and perform a huge variety of roles. Genes have names like RP1, RDH12, ABCA4 and PROM1, which usually give information about the protein they produce. You have two copies of each gene, one copy from your mother and one from your father.

Variation between different people’s copies of a particular gene is completely normal – it’s what makes us all unique and enables us to evolve. However, significant changes are sometimes present that make the instructions provided by the gene incorrect or unreadable, resulting in a faulty protein and ultimately causing problems such as inherited sight loss. We sometimes refer to these changes as mutations, and once they occur they can be passed down through the generations. See Inheritance patterns.

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