Mutations
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Transcript of Mutations
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Mutations Hollywood’s images of mutation
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MutationsEctrodactyly
Progeria
Hypertrichosis
Severe Combined Immunodeficiency Disorder (SCID)
Sickle Cell Anemia
Heterochromia iridium
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What is a mutation? @A mutation is any change in a cell’s
DNA@ A mutation can occur in an individual
gene - results in a single changed protein - bacterial resistance to antibiotics is
an example of a beneficial gene mutation
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What is a mutation continued
A mutation can occur in a chromosome - a chromosome contains many genes - chromosomal mutations affect many proteins Examples: Down Syndrome Edward’s Syndrome Cri-du-Chat
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What Causes Mutations? Can be caused by mutagens- a physical or
chemical cause of mutation. Examples: UV light, radiation, drugs, and benzene.
Mutagens are often also carcinogens – anything that causes cancer
Can be natural, random events. - mutations occur in 1/100,000 DNA
replications Mutations do not have to be bad (evolution)
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Gene Mutations1. Point Mutations
2. Frameshift Mutations
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Point Mutations Substitution @A single nucleotide is altered@. Can
change one amino acid in a protein Milk – Mile GGACAATCA GGACCATCA proline -valine-serine proline-glycine-serine
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Frameshift Mutations @A nucleotide is either inserted or
deleted from a gene.@ -all of the triplets from the point of
mutation onward will be changed
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Frameshift Mutations Insertion An insertion occurs when a nucleotide is
added to a gene Example: A nucleotide is inserted
The fat cat ate the rat The faa tca tat eth era t -the extra nucleotide shifts all of the
triplets that follow
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Frameshift Mutations Deletions A deletion occurs when a nucleotide is
removed from a gene.
Example: A nucleotide is removedThe fat cat ate the rat
Thf atc ata tet her at
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Insertion GGACAATCA GCGACAATCA proline -valine-serine arginine-cysteine-stop
Deletion GGACAATCA GGAAATCA proline -valine-serine proline-leucine
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Chromosomal Mutations
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Chromosomal Mutations Chromosomal mutations involve changes in
the number or structure of chromosomes.
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Chromosomal Mutations Deletion involves the loss of all or part
of a chromosome.
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Chromosomal Mutations Duplication produces an extra copy of
all or part of a chromosome.
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Chromosomal Mutations Inversion reverses the direction of
parts of a chromosome.
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Chromosomal Mutations Translocation occurs when part of one
chromosome breaks off and attaches to another.
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Harmful and Helpful Mutations
The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function.
@However, without mutations, organisms cannot evolve@
Mutations are the source of genetic variability in a species.
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Harmful Effects Some of the most harmful mutations
are those that dramatically change protein structure or gene activity causing genetic disorders.
Some cancers, for example, are the product of mutations that cause the uncontrolled growth of cells.
http://www.pbs.org/wgbh/nova/cancer/grow_flash.html
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Harmful Effects Sickle cell disease is a
disorder associated with changes in the shape of red blood cells. Normal red blood cells are round. Sickle cells appear long and pointed.
@Sickle cell disease is caused by a point mutation in one of the polypeptides found in hemoglobin@. (the blood’s principal oxygen-carrying protein)
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Beneficial Effects Mutations often produce proteins with new or altered functions that can be useful to organisms in different or changing environments.
For example, mutations have helped many insects resist chemical pesticides.
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Beneficial Effects Plant and animal breeders often make
use of “good” mutations.
The condition in which an organism has extra sets of chromosomes is called polyploidy.