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Mutations

Mutations. A mutation is a mistake in the cell’s DNA. G T TACG  G G TACG. DNA contains the information on how to make proteins . Codons of the mRNA will code for a specific amino acid. The order and length of the amino acid chain determine how it is folded and shaped.

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Mutations

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  1. Mutations

  2. A mutation is a mistake in the cell’s DNA. • GTTACG  GGTACG

  3. DNA contains the information on how to make proteins. • Codons of the mRNA will code for a specific amino acid.

  4. The order and length of the amino acid chain determine how it is folded and shaped. • If any of the amino acids are changed or the length is changed, the shape is different. • The protein’s function may change or not work at all.

  5. Mutations are only passed on to your offspring if they occur in your gametes (egg or sperm) • Mutations that occur in your body cells may cause cancer.

  6. Types of Mutations: • Substitution • (point mutation: change in one nucleotide)

  7. Examples • Cystic fibrosis • Sickle Cell Disease • GAG = glu • GTG = val One amino acid in the protein hemoglobin changes the shape of the cell

  8. Silent Mutation:

  9. Insertion • This causes a frameshift mutation. All the previous codons are now changed into different codons and therefore, different amino acids. • (also known as missense mutation)

  10. Multiple insertions. • A gene may be duplicated.

  11. Deletion: • A nitrogen base is deleted and a frameshift mutation occurs.

  12. A gene may be deleted.

  13. Inversion • The order of nitrogen bases can be switched around. A few amino acids may change. • Genes may switch places. May not be expressed properly.

  14. What causes mutations? • Induced mutations: Toxic chemicals and radiation

  15. Spontaneous mutations • Mistakes in DNA replication. • Your DNA contains 3 billion base pairs. These are copied every time you make a new skin cell, liver cell, stomach cell…. • Enzymes check the DNA to make sure there are no mistakes in the copying process.

  16. But…. No process is 100% accurate. • About one in every 50 million nucleotides has a mutation occur. • This means every new cell contains about 120 new mutations!

  17. Worried? • Don’t be… • As much as 97% of your DNA doesn’t code for proteins. • We don’t know what this DNA is for. • Also, Silent Mutations occur which don’t change the protein.

  18. Are all mutations bad? • No, some are good. • Antibiotic resistance in bacteria • Sickle cell resistance to Malaria

  19. Resistance to artherosclerosis • Immunity to HIV • Lactose tolerance

  20. Blue Skin… (diaphorase deficiency)

  21. Werewolf syndrome (congenital generalized hypertrichosis)

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