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? Mutations happen regularly Almost all mutations are neutral Chemicals & UV radiation cause mutations Mutations can be helpful, harmful, and neutral

4. Types of Mutations

5. Chromosome Mutations May Involve: –Changing the structure of a chromosome –The loss or gain of part of a chromosome

6. Chromosome Mutations Five types exist: –Deletion –Inversion –Translocation –Nondisjunction –Duplication

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

8. Deletions When a chromosome fragment breaks off and does not rejoin any chromosome. –Cri-du-chat (cry of the cat) Syndrome Cognitive impairment Improperly constructed larynx

9. Inversion Chromosome segment breaks off Segment flips around backwards Segment reattaches

10. Duplication Occurs when a gene sequence is repeated

11. Translocation Involves two chromosomes that aren’t homologous Part of one chromosome is transferred to another chromosome

12. Nondisjunction Failure of chromosomes to separate during meiosis Causes gamete to have too many or too few chromosomes Disorders: –Down Syndrome – three 21 st chromosomes –Turner Syndrome – single X chromosome –Klinefelter’s Syndrome – XXY chromosomes

13. Down Syndrome 90% from egg nondisjunction 10% from sperm nondisjunction Smallish, oval heads IQ well below normal Reduced life span Risk increases with mothers over 35.

14. Turner’s Syndrome Only one X chromosome Called XO Ovaries don’t develop properly Short in stature Brown spots on their bodies

15. Klinefelter Syndrome Phenotypically male XXY Some breast development Lack of facial hair More feminine figure Tall stature Non-functional testis

17. Chromosome Mutation Animation

18. 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.

19. Types of Gene Mutations Include: –Point Mutations –Substitutions –Insertions –Deletions –Frameshift

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

21. Point Mutation Sickle Cell disease is the result of one nucleotide substitution Occurs in the hemoglobin gene These cells clog capillaries, resulting in decreased oxygen supply to brain, tissues. Lower life expectancy (42, men 48, women)

22. Frameshift Mutation Inserting or deleting one or more nucleotides Changes the “reading frame” like changing a sentence Proteins built incorrectly

23. Gene Mutation Animation

24. FYI

25. Normal Male 25 2n = 46

26. Normal Female 26 2n = 46

27. Male, Trisomy 21 (Down’s) 27 2n = 47

28. Female Down’s Syndrome 28 2n = 47

29. Klinefelter’s Syndrome 29 2n = 47