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Point Mutations
Presented by:
Muzhar Ali
4028
Ali raza 4029
Presented
To:
DR.M.Javed
Iqbal
Siddiqui
¤ Introduction of mutations
¤ Types of mutations
¤ Chromosomal mutation
¤ Point mutation
¤ Types of point mutations
¤ Caus...
What Are Mutations?
• Changes in the
nucleotide sequence of
DNA
• May occur in somatic
cells (aren’t passed to
offspring)
...
Types of Mutations
Chromosome Mutations
• May Involve:
• Changing in the number of
chromosomes Lose or se
gain of chromosomes e.g.
• Down’s s...
Chromosome Mutations
• Down Syndrome
– Chromosome 21 does not separate
correctly.
– They have 47 chromosomes in
stead of 4...
Chromosome Mutations
• Due to change in structure.
–Deletion
–Inversion
–Translocation
–Nondisjunction
–Duplication
Chromosome Mutation
Animation
Point Mutation
• Change of a single
nucleotide
• Includes the deletion,
insertion, or substitution
of ONE nucleotide in a
...
–Point Mutations
– Base Substitution
–Silent mutation
– Sense mutation
–Nonsense mutation
Mutations: Substitutions
Substitution mutation
GGTCACCTCACGCCA
↓
CCAGUGGAGUGCGGU
↓
Pro-Arg-Glu-Cys-Gly
Substitutions will ...
Point Mutations
• Silent mutation = no change to protein
AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGC...
Point Mutation
• Sickle Cell disease is
the result of one
nucleotide
substitution
• Occurs in the
hemoglobin gene
Fig 4.4
Point Mutations
• Missense mutation = changes amino acid
AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGU...
Sickle cell anemia
• Hemoglobin protein in red blood cells
– strikes 1 out of 400 African Americans
– limits activity, pai...
Point Mutations
• Nonsense mutation = change to STOP
AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUAAGCAUGC...
Frameshift Mutations
• Add or delete one or more bases
– changes the meaning of the whole protein
THEFATCATANDTHEREDRATRAN...
Frameshift Mutations
• Addition = add one or more bases
AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGUC...
Frameshift Mutations
• Deletion = lose one or more bases
AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGA...
Gene Mutation Animation
Causes of Mutations
• Chemical cause the mutations are called
Mutagens. like
• Ionizing radiation
• Alpha, beta, gamma and...
Example of chemical mutations
30/10/2015
Mrs Smith: Ch13: Mutations an
Chromosomal Abnormalities
31
Types of mutations
Types of mutations
Types of mutations
Types of mutations
Types of mutations
Types of mutations
Types of mutations
Types of mutations
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Types of mutations

point mutation

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Types of mutations

  1. 1. Point Mutations
  2. 2. Presented by: Muzhar Ali 4028 Ali raza 4029
  3. 3. Presented To: DR.M.Javed Iqbal Siddiqui
  4. 4. ¤ Introduction of mutations ¤ Types of mutations ¤ Chromosomal mutation ¤ Point mutation ¤ Types of point mutations ¤ Causes of mutations Contents
  5. 5. 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
  6. 6. Types of Mutations
  7. 7. Chromosome Mutations • May Involve: • Changing in the number of chromosomes Lose or se gain of chromosomes e.g. • Down’s syndrome . • Change in the structure of chromosomes –gfgfgfggfgfgfgfghgfgvggfff
  8. 8. Chromosome Mutations • Down Syndrome – Chromosome 21 does not separate correctly. – They have 47 chromosomes in stead of 46. – Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of inteligence.
  9. 9. Chromosome Mutations • Due to change in structure. –Deletion –Inversion –Translocation –Nondisjunction –Duplication
  10. 10. Chromosome Mutation Animation
  11. 11. Point Mutation • Change of a single nucleotide • Includes the deletion, insertion, or substitution of ONE nucleotide in a gene
  12. 12. –Point Mutations – Base Substitution –Silent mutation – Sense mutation –Nonsense mutation
  13. 13. Mutations: Substitutions Substitution mutation GGTCACCTCACGCCA ↓ CCAGUGGAGUGCGGU ↓ Pro-Arg-Glu-Cys-Gly Substitutions will only affect a single codon Their effects may not be serious unless they affect an amino acid that is essential for the structure and function of the finished protein molecule (e.g. sickle cell anaemia) Normal gene GGTCTCCTCACGCCA ↓ CCAGAGGAGUGCGGU Codons ↓ Pro-Glu-Glu-Cys-Gly Amino acids © 2010 Paul Billiet ODWS
  14. 14. Point Mutations • Silent mutation = no change to protein AUGCGUGUAUACGCAUGCGAGUGA MetArgValTyrAlaCysGluStop AUGCGUGUAUACGCUUGCGAGUGA MetArgValTyrAlaCysGluStop
  15. 15. Point Mutation • Sickle Cell disease is the result of one nucleotide substitution • Occurs in the hemoglobin gene
  16. 16. Fig 4.4
  17. 17. Point Mutations • Missense mutation = changes amino acid AUGCGUGUAUACGCAUGCGAGUGA MetArgValTyrAlaCysGluStop AUGCGUGUAUACGUAUGCGAGUGA MetArgValTyrValCysGluStop
  18. 18. Sickle cell anemia • Hemoglobin protein in red blood cells – strikes 1 out of 400 African Americans – limits activity, painful & may die young Normal round cells Misshapen sickle cells Only 1 out of 146 amino acids
  19. 19. Point Mutations • Nonsense mutation = change to STOP AUGCGUGUAUACGCAUGCGAGUGA MetArgValTyrAlaCysGluStop AUGCGUGUAUAAGCAUGCGAGUGA MetArgValStop Really destroyed that protein!
  20. 20. Frameshift Mutations • Add or delete one or more bases – changes the meaning of the whole protein THEFATCATANDTHEREDRATRAN THEFATCANTANDTHEREDRATRAN THEFATCAANDTHEREDRATRAN OR Add one!Delete one! Does this change the sentence? A LOT!
  21. 21. Frameshift Mutations • Addition = add one or more bases AUGCGUGUAUACGCAUGCGAGUGA MetArgValTyrAlaCysGluStop AUGCGUGUAUACGUCAUGCGAGUGA MetArgValTyrValMetArgValA
  22. 22. Frameshift Mutations • Deletion = lose one or more bases AUGCGUGUAUACGCAUGCGAGUGA MetArgValTyrAlaCysGluStop AUGCGUGUAUACGAUGCGAGUGA MetArgValTyrAspAlaSerGA
  23. 23. Gene Mutation Animation
  24. 24. Causes of Mutations • Chemical cause the mutations are called Mutagens. like • Ionizing radiation • Alpha, beta, gamma and cosmic rays. • Nonionizing radiation • Uv light, • Chemical mutagens • Nitrous acid, Hydroxylamine
  25. 25. Example of chemical mutations 30/10/2015 Mrs Smith: Ch13: Mutations an Chromosomal Abnormalities 31

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