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Mutation & Genetic Variation

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Page 1: Mutation notes

Mutation & Genetic Variation

Page 2: Mutation notes

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

Page 3: Mutation notes

a. Mutation can involve the ENTIRE chromosome or a SINGLE gene

b. May HELP, HARM, or have LITTLE to no effect on future generationso Changes may be SILENT or may cause

phenotypic changes

Page 4: Mutation notes

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!

Page 5: Mutation notes

II. CAUSES OF MUTATION:

1. _HEREDITY

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

3. _CHANCE: mistakes that happen during replication but are rare

Page 6: Mutation notes

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

Page 7: Mutation notes

2. _CROSSING OVER fails: incomplete separation of chromosomes leads to more or less chromosomes in new progeny (happens in meiosis)

Page 8: Mutation notes

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 affectedex: UCU and UCC both code for same

amino acid

If codon is a “stop” or different amino acid the protein will be altered

Page 9: Mutation notes
Page 10: Mutation notes

Ex:

Normal: EAT THE CATMutation: EAT THE BAT

Page 11: Mutation notes

b. DELETION: _ONE or MORE nucleotides may be DELETED

from the gene sequenceoMore serious consequences than

substitutionsoThe deletion of a single nucleotide cause

remaining nucleotide codons to be grouped incorrectly

Page 12: Mutation notes

IV. RESULTS OF MUTATIONS• CHANGES TO DNA CAN INCREASE CHANCES OF GENETIC

VARIATION THAT MAY OR MAY NOT BE HARMFUL

1. Hereditary disorders: inherited mutationa. _SICKLE CELL ANEMIAb. _PKU: phenylketonuriac. _CYSTIC FIBROSIS

2. Cancer: non-inherited mutation


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