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Mutations

Mutations. Mutations. Changes in DNA Can affect RNA and thus protein. Point Mutations. Change of a single nucleotide. Substitution Mutation. THE FAT CAT ATE THE RAT THE FAT B AT ATE THE RAT. Insertion. THE FAT CAT ATE THE RAT THE F F A TCA TAT ETH ERA T.

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Mutations

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  1. Mutations

  2. Mutations • Changes in DNA • Can affect RNA and thus protein

  3. Point Mutations • Change of a single nucleotide

  4. Substitution Mutation • THE FAT CAT ATE THE RAT • THE FAT BAT ATE THE RAT

  5. Insertion • THE FAT CAT ATE THE RAT • THE FFA TCA TAT ETH ERA T Add an F between the F and A in FAT

  6. Deletion • THE FAT CAT ATE THE RAT • THE FTC ATA TET HER AT Remove the A in FAT

  7. Mutations can be described by their effects on proteins • Missense – Mutations that result in a new amino acid

  8. Sickle Cell Anemia • Caused by a single substitution mutation • Blood cells shaped like a sickle

  9. Nonsense – Mutation results in the creation of a Stop codon. • Ex. Beta Thalassemia – nonsense mutation that codes for hemoglobin, results in anemia

  10. Frameshift– Insertions or deletions cause a shift in the reading frame

  11. ∆32 • A deletion of 32 base pairs that code for a protein on the surface of white blood cells • This protein is normally used by HIV to enter the cell • The resulting frameshift mutation prevents HIV from entering the cell

  12. Most mutations are neither positive nor negative • Neutral – Change in amino acid that doesn’t affect the protein • Silent - No change in amino acid, only DNA

  13. Chromosomal mutations • Some mutations can be caused by the addition or loss of an entire chromosome • Aneuploidy – addition or loss of a chromosome

  14. Down Syndrome • Also called Trisomy 21 • Causes physical growth delays, intellectual disability, and often have heart disease

  15. Turner Syndrome • Also called 45,X • People with Turner Syndrome have only 1 X Chromosome (X0) • Biologically female • Causes infertility, short height, and lack of estrogen

  16. Klinefelter Syndrome • Also known as 47,XXY • Biologically male • Addition of an extra X sex chromosome • Infertility, breast cancer, and osteoporosis are common.

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