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Definition

The complex process by which introns are removed and exons rejoined to form a mature mRNA transcript.

Use in clinical context

Genes contain both introns and exons. Only the exons contain the information required to code for a protein. The introns need to be removed before the mRNA can be translated into a polypeptide chain. The translated protein is likely to be nonsensical if the introns are not removed from the mRNA, and the protein will not function as it should. Variants in a gene can affect this process which can result in exons being skipped or missing in the mature mRNA. Alternatively, different versions of a protein can be made from the gene by altering how the mRNA is spliced.

Last updated on 30th May, 2019