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Mutations & Environmental effects

in DNA

Mutations: what are they?

A mutation is a permanent change in the sequence of base pairs in the DNA that makes up a gene. A mutation may involve just one nucleotide or it may affect a large section of the gene / chromosome. Some mutations cause damage, while others do not.

Causes of mutations
A mutation may be
caused by an error in DNA replication.

A mutation may be
caused by external inuences - exposure to certain chemicals or radiation. DNA breaks down and the cell may not repair it correctly.

Nucleotide mutations
Mutations in a single nucleotide: Normal DNA: Normal mRNA: TAC TTG GCA TCC TTG ACT AUG AAC CGU AGG AAC UGA Normal Amino Acids: START - asn - arg - arg - asn - STOP

Mutated DNA: Mutated mRNA: Mutated Amino Acids:

TAC TTA GCA TCC TTG ACT AUG AAU CGU AGG AAC UGA START - asn - arg - arg - asn - STOP

Did this mutation make a difference to the amino acid sequence?

Mutated DNA: Mutated mRNA: Mutated Amino Acids:

TAC TTT GCA TCC TTG ACT AUG AAA CGU AGG AAC UGA START - lys - arg - arg - asn - STOP

Did this mutation make a difference to the amino acid sequence?

Chromosome mutations
An example of a chromosome mutation: Trisomy of chromosome pair 21 causing Down Syndrome.

- Impairment of thinking and physical abilities - Differences in physical attributes

Environmental inuence
Phenotype is the product of
interactions between genotype and the environment. white but within weeks, the fur on its ears, tail and lower legs is black. environment might inuence how DNA is expressed in this example.

E.g. Himalayan rabbit is born

Discuss ideas as to how the

A short movie about mutations....


There is a connection between mutations and cancer.

A short movie about sickle cell anemia


Genetic diseases are caused by mutations e.g. sickle cell anemia

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