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Mutation & Genetic Variation
I. MUTATION & GENETIC VARIATION
1. Mutation: a CHANGE or alteration of the DNA
sequence that can cause a disruption of a gene
and in turn alter the production of a protein
a. Mutation can involve the ENTIRE chromosome
   or a SINGLE gene




b. May HELP, HARM, or have LITTLE to no effect on
   future generations
     o Changes may be SILENT or may cause
        phenotypic changes
c. Can occur during SEXUAL and ASEXUAL
   reproduction

    • _INHERITED mutation: occur in gametes and
      can be passed down to offspring cells
      – Happens during meiosis

    • _NONINHERITED mutation: occur in somatic
      cells which can alter the future new cells
      – Happens during mitosis!
II. CAUSES OF MUTATION:
1. _HEREDITY

2. _CARCINOGENS: chemicals, radiation,
   smoking, alcohol, etc.

3. _CHANCE: mistakes that happen during
   replication but are rare
III. MAJOR EXAMPLES THAT CAUSE
MUTATIONS:
1. _JUMPING GENES: a TRANSPOSON or
   segment of DNA that can insert itself into
   different positions along a chromosome
2. _CROSSING OVER fails: incomplete separation of
chromosomes leads to more or less chromosomes
in new progeny (happens in meiosis)
3. SINGLE GENE MUTATIONS
a. SUBSTITUTION: ONE or MORE nucleotides are
   REPLACED by a different nucleotide in the gene
   sequence ex: AGA copied as AGG
   Results in a NEW CODON (mRNA)
   If codon is the same as the original, the
     protein will not be affected
     ex: UCU and UCC both code for same amino acid
   If codon is a “stop” or different amino acid the
    protein will be altered
Mutation notes
Ex:

Normal:     EAT THE CAT
Mutation:   EAT THE BAT
b. DELETION:
 _ONE or MORE nucleotides may be DELETED
  from the gene sequence
   o More serious consequences than
     substitutions
   o The deletion of a single nucleotide cause
     remaining nucleotide codons to be grouped
     incorrectly
IV. RESULTS OF MUTATIONS
• CHANGES TO DNA CAN INCREASE CHANCES OF GENETIC
  VARIATION THAT MAY OR MAY NOT BE HARMFUL
1. Hereditary disorders: inherited mutation
  a. _SICKLE CELL ANEMIA
  b. _PKU: phenylketonuria
  c. _CYSTIC FIBROSIS

2. Cancer: non-inherited mutation

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Mutation notes

  • 1. Mutation & Genetic Variation
  • 2. I. MUTATION & GENETIC VARIATION 1. Mutation: a CHANGE or alteration of the DNA sequence that can cause a disruption of a gene and in turn alter the production of a protein
  • 3. a. Mutation can involve the ENTIRE chromosome or a SINGLE gene b. May HELP, HARM, or have LITTLE to no effect on future generations o Changes may be SILENT or may cause phenotypic changes
  • 4. c. Can occur during SEXUAL and ASEXUAL reproduction • _INHERITED mutation: occur in gametes and can be passed down to offspring cells – Happens during meiosis • _NONINHERITED mutation: occur in somatic cells which can alter the future new cells – Happens during mitosis!
  • 5. II. CAUSES OF MUTATION: 1. _HEREDITY 2. _CARCINOGENS: chemicals, radiation, smoking, alcohol, etc. 3. _CHANCE: mistakes that happen during replication but are rare
  • 6. III. MAJOR EXAMPLES THAT CAUSE MUTATIONS: 1. _JUMPING GENES: a TRANSPOSON or segment of DNA that can insert itself into different positions along a chromosome
  • 7. 2. _CROSSING OVER fails: incomplete separation of chromosomes leads to more or less chromosomes in new progeny (happens in meiosis)
  • 8. 3. SINGLE GENE MUTATIONS a. SUBSTITUTION: ONE or MORE nucleotides are REPLACED by a different nucleotide in the gene sequence ex: AGA copied as AGG  Results in a NEW CODON (mRNA)  If codon is the same as the original, the protein will not be affected ex: UCU and UCC both code for same amino acid  If codon is a “stop” or different amino acid the protein will be altered
  • 10. Ex: Normal: EAT THE CAT Mutation: EAT THE BAT
  • 11. b. DELETION:  _ONE or MORE nucleotides may be DELETED from the gene sequence o More serious consequences than substitutions o The deletion of a single nucleotide cause remaining nucleotide codons to be grouped incorrectly
  • 12. IV. RESULTS OF MUTATIONS • CHANGES TO DNA CAN INCREASE CHANCES OF GENETIC VARIATION THAT MAY OR MAY NOT BE HARMFUL 1. Hereditary disorders: inherited mutation a. _SICKLE CELL ANEMIA b. _PKU: phenylketonuria c. _CYSTIC FIBROSIS 2. Cancer: non-inherited mutation