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

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

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

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.


TYPES OF GENE MUTATIONS

  • Point mutation

  • Frameshift mutation


POINT MUTATION

Changes one base pair in the DNA sequence of a gene

Ex: CAT TAG CAT GAG


OUTCOME OF POINT MUTATIONS

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


NormalMutated

DNA AAA CCG ATT AAA TCG ATT

mRNA UUU GGC UAA UUU AGC UAA

A.A PHE GLY STOP PHE SER STOP


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

    (a benefit of the genetic code’s redundancy)


NormalMutated

DNA AAA CCG ATT AAA CCA ATT

mRNA UUU GGC UAA UUU GGU UAA

A.A PHE GLY STOP PHE GLY STOP


FRAMESHIFT MUTATION

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

Ex: CAT TAG CTT AG


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.


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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