Gene mutations
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GENE MUTATIONS. 2011. MUTATION Change in the genetic material (DNA). CAUSES OF MUTATIONS 1. Errors during DNA replication 2. Radiation and toxic chemicals 3. Viruses 4. Errors during formation of egg and sperm cells. IMPACT OF MUTATIONS DEPENDS ON THE CELL IN WHICH THEY OCCUR

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GENE MUTATIONS

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Gene mutations

GENE MUTATIONS

2011


Gene mutations

MUTATION

Change in the genetic material (DNA)


Gene mutations

CAUSES OF MUTATIONS

1. Errors during DNA replication

2. Radiation and toxic chemicals

3. Viruses

4. Errors during formation of egg and sperm cells


Gene mutations

IMPACT OF MUTATIONS DEPENDS ON THE CELL IN WHICH THEY OCCUR

1. Somatic Cell: may lead to cancer

2. Gamete Cell (sperm or egg)

  • Sterility (organism can’t reproduce)

  • Passed to offspring (birth defect)


Gene mutations

GENE MUTATIONS

Alters the DNA sequence of one gene on a chromosome

  • Affects the body’s ability to synthesize one type of protein.

  • All copies of that protein in the body may be defective.


Gene mutations

TYPES OF GENE MUTATIONS

  • Point mutation

  • Frameshift mutation


Gene mutations

POINT MUTATION

Changes one base pair in the DNA sequence of a gene

Ex: CAT TAG CAT GAG


Gene mutations

OUTCOME OF POINT MUTATIONS

1. One amino acid is altered and the protein is defective.


Gene mutations

NormalMutated

DNA AAA CCG ATT AAA TCG ATT

mRNA UUU GGC UAA UUU AGC UAA

A.A PHE GLY STOP PHE SER STOP


Gene mutations

  • Alteration codes for the same amino acid and the protein is normal.

    (a benefit of the genetic code’s redundancy)


Gene mutations

NormalMutated

DNA AAA CCG ATT AAA CCA ATT

mRNA UUU GGC UAA UUU GGU UAA

A.A PHE GLY STOP PHE GLY STOP


Gene mutations

FRAMESHIFT MUTATION

One or more base pairs are added or deleted from the DNA sequence of a gene

Ex: CAT TAG CTT AG


Gene mutations

IMPACT OF FRAMESHIFT MUTATIONS

If the addition or deletion is NOT a multiple of three, all amino acids after the mutation are altered and the protein is defective.


Gene mutations

NormalMutated

DNA AAA TGG CCG ATT AAA GGC CGA TT

mRNA UUU ACC GGC UAA UUU CCG GCU AA

A.A PHE THR GLY STOP PHE PRO ALA


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