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Mutations

Mutations. What Are Mutations?. Changes in the nucleotide sequence of DNA May occur in somatic cells (aren’t passed to offspring) May occur in gametes (eggs & sperm) and be passed to offspring. Are Mutations Helpful or Harmful?. Some mutations may improve an organism’s survival (beneficial).

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Mutations

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  1. Mutations

  2. What Are Mutations? • Changes in the nucleotide sequence of DNA • May occur in somatic cells (aren’t passed to offspring) • May occur in gametes (eggs & sperm) and be passed to offspring

  3. Are Mutations Helpful or Harmful? • Some mutations may improve an organism’s survival (beneficial)

  4. Types of Mutations

  5. Gene Mutations • Change in the nucleotide sequence of a gene • May only involve a single nucleotide • May be due to copying errors, chemicals, viruses, etc.

  6. Types of Gene Mutations • Include: • Point Mutations • Substitutions • Insertions • Deletions • Frameshift

  7. Point Mutation • Change of a single nucleotide • Includes the deletion, insertion, or substitution of ONE nucleotide in a gene

  8. Point Mutation • Original: THE FAT CAT ATE THE RAT • Mutation: • Substitution - • Insertion - • Deletion -

  9. Frameshift Mutation • Inserting or deleting one or more nucleotides – a specific type of point mutation that can change the created protein. • Changes the “reading frame” like changing a sentence • Proteins built incorrectly

  10. Frameshift Mutation • Original: THE FAT CAT ATE THE RAT • Mutation: • Frameshift -

  11. Amino Acid Sequence Changed

  12. Chromosome Mutations • May Involve: • Changing the structure of the chromosome of a chromosome • loss or gain of part of the chromosome of part of a chromosome

  13. Chromosome Mutations • Several types exist: • Deletion • Inversion • Duplication

  14. Deletion • Due to breakage • A piece of a chromosome is lost

  15. Inversion • Chromosome segment breaks off • Segment flips around backwards • Segment reattaches

  16. Duplication • Occurs when a gene sequence is repeated

  17. FYI

  18. Normal Male 2n = 46

  19. Normal Female 2n = 46

  20. Male, Trisomy 21 (Down’s) 2n = 47

  21. Female Down’s Syndrome 2n = 47

  22. Klinefelter’s Syndrome 2n = 47

  23. Turner’s Syndrome 2n = 45

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