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Mutations

Mutations are changes in the nucleotide sequence of DNA. They can occur in somatic cells, which are not inherited, or in gametes, which can be passed to offspring. While some mutations may be harmful, others can enhance an organism's survival, representing beneficial adaptations. Key types of mutations include gene mutations, such as point mutations, deletions, and insertions, as well as chromosome mutations like duplications, inversions, and deletions. Understanding these processes is crucial for grasping genetic diversity and evolution.

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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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