Mutations

A nucleus

DNA

transcription A

mRNA
translation

Cytoplasm:

ribosome

Trp

Phe Gly

Ser

PROTEIN

A change in the arrangement of bases in an individual gene or in the structure of the chromosome (which changes the arrangement of genes).

Mutations can occur in gametes and somatic cells. Chance of mutation is between 2-30 x 10-7 Faulty DNA can be repaired by specific enzymes. Unrepaired mutations will affect the new proteins being synthesised

Changes in an individual gene due to miscopying of one or more nucleotides. Deletion or insertion of a nucleotide results in a frameshift:

C A T G C GAT C A G A T
Codon 1 Codon 2 Codon 3

Codon 4

Tyr Val

Arg Ala

Ser

Leu

Substitution mutations result in a change of one base:

TCGGCAT TAC G T GAA A

Met

His

Phe Leu

Ala

Val

Gene deletion:

Gene duplication:

E C

Inversion:

Translocation:

A
X

B
W

C Y

D Z

An entire chromosome is lost or repeated during cell division. Example: Downs syndrome is caused by having an extra chromosme 21.

Production of new/superior protein: Results: gain of reproductive advantage Neutral mutation: Result: No change Production of inferior or no protein: Result: Fatal and/or disease causing.

Mutagens such as: X-rays ionising radiation chemicals

Define the term:

duplication deletion mutation

translocation

somatic

insertion mutagen

Downs syndrome

inversion

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