A Level Biology

Alteration of the sequence of bases in DNA

can alter the structure of proteins

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Mutations
▪ Mutations are changes in the genetic materials
(DNA) which can be transmitted to the future
generations. Hence these changes are inheritable.
▪ Major causes of mutations
 Could be caused during the replication and
segregation of DNA.
 Chemical mutants - formaldehyde,
pesticides, mustard gas, caffeine, food
preservatives
 Rays - UV and Ɣ rays

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▪ Other than the factors mentioned previously, the following also could cause
mutations:

1. Physical factors such as pressure and temperature.

2. Without any reason - spontaneously
3. Mutations can pass into new cells according to two ways.
4. Mitosis - moves only into somatic cells. Therefore they are known as
somatic mutations. They are inherited by asexual reproduction.
5. Meiosis- moves into reproductive cells. Therefore they are known as
genetic mutations. They are inherited only by sexual reproduction.

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Mutations Change in the structure of a gene Gene mutation

▪ Substitution - swapping of one or more bases. E.g. ATGCCT ----> ATTCCT

▪ Addition - addition of one or more bases. E.g. ATGCCT ----> ATGACCT
▪ Deletion - removal of one or more bases. E.g. ATGCCT ----> ATCCT
▪ Duplication - repeating of one or more bases. E.g. ATGCCT ---->
ATGCCCCT
▪ Inversion - reversal of a base sequence. E.g. ATGCCT ----> ACCGTT
▪ Translocation - movement of a sequence of bases from one location in the
genome to another. This can be a form of movement towards a different
chromosome or within the same chromosome.

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▪ The sequence of amino acids in a specific polypeptide
is determined by the order of DNA bases in a gene.
Therefore, a mutation in a gene could alter the amino
acid sequence in the polypeptide.
▪ Genetic codes have a degenerate nature. This
suggests that certain amino acids are coded for by
more than just one DNA triplet, which indicates that all
forms of mutations will not always bring about a change
in the amino acid sequence of the polypeptide. For
example, some substitutions will continue coding for the
same amino acid.
▪ A mutation which does not alter the amino acid order is
known as a ‘silent mutation’.
▪ On certain occasions, alterations in the amino acid
sequence is not caused by inversion mutations either.

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▪ However, duplications, deletions and additions in a gene will end up altering
the amino acid sequence of a polypeptide almost all the time.
▪ This happens because all these mutations alter the number of bases
present in the DNA code resulting in a shift (frameshift) within the base
triplets that follow, causing the triplet code to be read in a diverse way.

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