Mutations
A mutationA random and spontaneous change in the structure of a gene, chromosome or number of chromosomes. is a change in a geneThe basic unit of genetic material inherited from our parents. A gene is a section of DNA which controls part of a cell's chemistry - particularly protein production. or chromosomeThe structure made of DNA that codes for all the characteristics of an organism.. It is a rare, random change in the genetic material and it can be inherited.
Causes of mutation
Mutation occurs continuously and can be spontaneous. It can also happen because of:
- ionising radiationRadiation that is able to remove electrons from atoms or molecules to produce positively charged particles called ions.
- chemical mutagenA physical or chemical agent that can induce or increase the frequency of mutation in an organism., such as tar from cigarette smoke
Ionising radiation includes gamma rays, X-rays and ultraviolet rays. The greater the dose of radiationEnergy carried by particles from a radioactive substance, or spreading out from a source. a cell gets, the greater the chance of a mutation.

Mutations could cause different genes to be switched on or off, and this could create a different or faulty proteinOrganic compound made up of amino acid molecules. One of the three main food groups, proteins are needed by the body for cell growth and repair. to be synthesised. For example, if the protein is an important enzyme, the specific substrate might not fit into the substrate binding site. If it is a structural protein such as collagen, it might lose its strength.
However, most DNADeoxyribonucleic acid. The material inside the nucleus of cells, carrying the genetic information of a living being. mutations do not significantly alter a protein, they only alter it slightly, or not at all, so its appearance or function is not changed.
Mutations can be positive and give an organism an advantage or negative and give a disadvantage but mutations that have a significant effect are rare. Some mutations may have a small effect but most mutations have no effect on the organism. They do not change to the organism's phenotypeThe visible characteristics of an organism which occur as a result of its genes..
Image caption, Original gene structure
There are many different types of mutations which can arise in DNA. This diagram shows the normal order of the bases for one of the strands in a DNA molecule. Only one of the strands of DNA is involved in protein synthesis. A change from the normal order of bases leads to different types of gene mutation eg CGA / ACC / CGA.
Image caption, Substitution
In this image the first G base has been substituted with a C base. As the bases are read in threes' (triplet code) this may result in a different amino acid being synthesised, and therefore possibly a different protein eg CCA / ACC / CGA
Image caption, Insertion
An extra G base has been inserted in between the second C and first A bases. As the bases are read in threes' (triplet code) this may result in different amino acids being synthesised from the insertion point along the whole sequence, and therefore is likely to produce a different protein eg CCG / AAC/ CCG / A
Image caption, Deletion
In this version a G base has been removed in between the second C and first A bases. As the bases are read in threes' (triplet code) this may result in different amino acids being synthesised from the deletion point along the whole sequence, and therefore is likely to produce a different protein eg CCA / ACC/ CGA
Image caption, Inversion
In this image the order of the bases has changed. The second C and first A bases have swapped positions. As the bases are read in threes' (triplet code) this may result in a different amino acid being synthesised, and therefore possibly a different protein eg CAC ACC CGA
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These mutations may change the activity of a protein if they occur within a gene. This might result in a change in phenotype or it might appear hidden, and be unnoticed. Alternatively, they might result in a serious consequence, such as genetic disease like cystic fibrosis.