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Page 1: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+

MutationsChapter 12-4

Page 2: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+What are mutations?

Any change to the genetic code

Gene mutations: A change in one or a few nucleotides in a gene

Chromosomal Mutations: a change in the number or structure of chromosomes

Page 3: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+What are mutations?

Gene mutations 1) point mutation (substitution):

Change of 1 base into another resulting in a change in 1 amino acid in the sequence

Page 4: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+Effects of substitutions

Some substitutions result in coding for same amino acid

Some change amino acid but doesn’t affect overall protein

Some change 1 amino acid and changes structure of entire protein

Page 5: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+Sickle Cell Anemia

Normal hemoglobin

Sickle CellHemoglobin

Page 6: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+2) Frameshift: Shift in the reading frame that causes every amino acid after the mutation to be different.

(Caused by Insertion or deletion)

Insertion

Deletion

Page 7: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+Effects of Frameshift mutations

Good: disables CCR5 HIV receptor which allows HIV virus to attack Immune cells

Mutations that allow evolution of species (survival of the fittest)

Bad: Causes severe disorders:Tay SachsChron’s diseasColor Blindness

http://en.wikipedia.org/wiki/CCR5
http://en.wikipedia.org/wiki/CCR5
Page 8: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+What are mutations?

Chromosomal mutations: A change in one or a few chromosomes

4 Types: 1) Deletion: Loss of part / all2) Duplication: Segment is repeated

3) Inversion: Segment is reversed4) Translocation: Segment breaks off and is reattached

Page 9: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+

Page 10: + Mutations Chapter 12-4. + What are mutations? Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal

+Effects

Down Syndrome Turners Syndrome


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