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GENETIC MUTATIONS Section 5.6 Pg. 259.

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1 GENETIC MUTATIONS Section 5.6 Pg. 259

2 Mutation: A change in the DNA sequence that is inherited as the DNA is transmitted through cell division.

3 Categorising mutations
By effect on structure By consequences on resulting proteins

4 1. Mutations by effect on structure
Point mutations Mutations that occur to a specific base pair in the genome. Chromosomal mutations Mutations that involve large segments of DNA.

5 Point mutations Substitution: One base pair is replaced with another

6 Substitution mutation
Sickle cell anemia Point mutation in hemoglobin Results in misshapen hemoglobin Reduces lifespan by 30 years Can’t transport Oxygen effectively to tissue Nucleotide 19 is subsituted AU

7 Point mutations (cont`d)
Deletion: One or more base pairs is eliminated from the DNA sequence

8 Point mutations (cont`d)
Insertion: One or more base pairs is inserted into the DNA sequence

9 Frameshift mutations “frameshift mutations”
Deletions and insertions of 1-2 base pairs will result in a shift in the reading frame. “frameshift mutations”

10 Deleting or inserting 3 base pairs is not considered a frameshift mutation... why??

11 Chromosomal mutations
Inversion : The reversal of a segment of DNA within a chromosome. Results from breaking and rejoining Can have an effect if break occurs within a gene

12 Chromosomal mutations (cont`d)
Translocation: A fragment of DNA moves from one part of the genome to another. Can result in a “fusion protein” Associated with some types of Leukemia

13 Translocation Mutation: leukemia
chronic myelogenous leukemia Cancer of the blood and bone marrow Caused by a translocation between chrom 9 & 22 Translocation produces “Philiadephia chromosome” Associated to exposure to benzene, radiation, and X-Rays

14 Chromosomal mutations (cont`d)
Deletion: Part of a chromosome is deleted and becomes “missing”

15 Chromosomal mutations (cont`d)
Insertion: The complement of deletion. Part of another chromosome is inserted.

16 2. Mutations by consequence on resulting protein
Silent mutations Missense mutations Nonsense mutations

17 Silent mutations Does not result in a change in amino acid sequence
no phenotypic change; no effect on the cell How? May occur within an intron Redundancy of genetic code ACA and ACU are both codons for threonine

18 Missense mutations Results in a change to a codon
The wrong amino acid is incorporated Does not necessarily drastically alter protein function Checkpoint: Can you classify this mutation by its effect on structure?

19 Nonsense mutations A codon is converted to a stop codon
truncated protein is produced Checkpoint: Can you classify this mutation by its effect on structure?

20 Chromosomal mutations
Consolidation MUTATIONS Effect on structure Point mutations substitution deletion insertion Chromosomal mutations inversion translocation duplication Effect on protein Silent Missense Nonsense

21 Causes of mutations *Or mutations can be inherited from a parent!
Innate Spontaneous: Due to errors in replication Environmental Exposure to mutagenic agents UV radiation, X rays, chemicals *Or mutations can be inherited from a parent!

22 DNA composition

23 DNA composition Coding regions: 5% of genome 42 000 genes
Noncoding regions: 95% of genome Repetitive DNA VNTRs (“microsatellites” – genetic markers used in forensics) Telomeres Centromeres Pseudogenes (genes that are no longer expressed in the cell)

24 Homework Mutations: Pg #1-7

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