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Mutations
• What is the definition ofmutation?-A mutation is a change or anymistake in DNA sequence
Mutants…
Types of mutations:• Point Mutations• Frameshift Mutations• Chromosomal Mutations
Point mutations:• Point mutations are single-base changesin a gene’s DNA sequence.• These include:-Missense mutations-Nons...
Point mutations: Missensemutation• Missense mutation: Change in a singleamino acid within a protein.• This does change in ...
Point Mutations: Nonsensemutation• Nonsense mutation: Nonsensemutations make a premature stop codonthat causing the protei...
Point Mutations: Silent mutation• Silent mutation: Silent mutations change theDNA sequence(not the amino acid sequence).• ...
↓
Frameshift Mutations• Frameshift Mutations: Frameshift Mutation isinsertion or deletion of one or more bases into or fromt...
Frameshift Mutation:
Chromosomal Mutations:4 types of chromosomal Mutations:• Translocation: A chromosomal segment is transferredto a new posit...
Chromosomal Mutations:
Causes of Genetic Mutations:• Sometimes it happens for no reason(Spontaneous Mutations).• Environmental Causes:-UV light- ...
Genetic Disorders:
Cystic Fibrosis
OsteogenesisImperfecta
Multiple Neurofibromastosis• genetically-inherited disorder• Multiple begins tumors that form in skin
Klinefelter’s Syndrome• Males have XXY sex chromosomes:
Twin-to-Twin Transfusion Syndrome• Due to placental abnormality, one twinreceives too much blood and the otherdoes not rec...
Fragile X Syndrome
Mutationby madhuhewa&judygarza
Mutationby madhuhewa&judygarza
Mutationby madhuhewa&judygarza
Mutationby madhuhewa&judygarza
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Mutationby madhuhewa&judygarza

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Transcript of "Mutationby madhuhewa&judygarza "

  1. 1. Mutations
  2. 2. • What is the definition ofmutation?-A mutation is a change or anymistake in DNA sequence
  3. 3. Mutants…
  4. 4. Types of mutations:• Point Mutations• Frameshift Mutations• Chromosomal Mutations
  5. 5. Point mutations:• Point mutations are single-base changesin a gene’s DNA sequence.• These include:-Missense mutations-Nonsense mutations-Silent mutations
  6. 6. Point mutations: Missensemutation• Missense mutation: Change in a singleamino acid within a protein.• This does change in protein.Example:Normal: THE DOG BIT THE CATMutated: THE DOG BIT THE CAR
  7. 7. Point Mutations: Nonsensemutation• Nonsense mutation: Nonsensemutations make a premature stop codonthat causing the protein to be shortened.• Nonsense mutation does change theresulting protein.Example:Normal: THE DOG BIT THE CATMutated: THE DOG BIT
  8. 8. Point Mutations: Silent mutation• Silent mutation: Silent mutations change theDNA sequence(not the amino acid sequence).• Silent mutation does not change the resultingprotein and no effect on an organism.Example:Normal: THE DOG BIT THE CATMutated: THE DOG BIT THE KAT
  9. 9.
  10. 10. Frameshift Mutations• Frameshift Mutations: Frameshift Mutation isinsertion or deletion of one or more bases into or fromthe DNA sequence.• This effect on every amino acid in the protein and itmakes protein nonfunctional.Example:
  11. 11. Frameshift Mutation:
  12. 12. Chromosomal Mutations:4 types of chromosomal Mutations:• Translocation: A chromosomal segment is transferredto a new position on the same or another chromosome• Deletion: the loss or absence of one or morenucleotides from a chromosome• Inversion: Part of a chromosome breaks out and isreinserted backwards• Insertion: Part of the chromosome is broken off andattaches to the sister chromatid.
  13. 13. Chromosomal Mutations:
  14. 14. Causes of Genetic Mutations:• Sometimes it happens for no reason(Spontaneous Mutations).• Environmental Causes:-UV light- Radiation- X-rays-Some Chemicals
  15. 15. Genetic Disorders:
  16. 16. Cystic Fibrosis
  17. 17. OsteogenesisImperfecta
  18. 18. Multiple Neurofibromastosis• genetically-inherited disorder• Multiple begins tumors that form in skin
  19. 19. Klinefelter’s Syndrome• Males have XXY sex chromosomes:
  20. 20. Twin-to-Twin Transfusion Syndrome• Due to placental abnormality, one twinreceives too much blood and the otherdoes not receive enough.
  21. 21. Fragile X Syndrome
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