Genes and chromosomes 3: genes, proteins and mutations

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This article has been double-blind peer reviewed

In this article…

• How cells in the human body use genetic information to build proteins

• Stages of deoxyribonucleic acid transcription and translation

• Types of ribonucleic acid and their respective function in protein synthesis


John Knight and Maria Andrade are both senior lecturers in biomedical science at the College of Human Health and Science, Swansea University.

Proteins are made of chains of amino acids and form the largest organic component of the human body. They are essential not only to its fabric but also to its functioning. Instructions for building proteins are contained in the genetic code stored in deoxyribonucleic acid (DNA) in the nucleus of cells. To go from genes to proteins, a series of complex processes need to take place inside cells, including DNA transcription and translation. This third article in our series on genes and chromosomes examines how the genetic code stored in human genes is translated into proteins. It also explains how errors in the genetic code, or mutations, can lead to the production of abnormal proteins that may cause disease.


Knight J, Andrade M (2018) Genes and chromosomes 3: genes, proteins and mutations. Nursing Times; 114: 9, 58-62.

Key points

Deoxyribonucleic acid (DNA) stored in genes contains the blueprint for building the human body

Key points

Proteins, essential to the fabric and function of the body, are chains of amino acids

Key points

Proteins are synthesised in cells by the ribosomes

Key points

Protein synthesis involves DNA transcription, post-transcriptional modification, translation and post-translational modifications

Key points

Genetic mutations can lead to abnormal proteins, which in turn can lead to autoimmune disease and malignancy

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