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Published byCuthbert Holt Modified over 9 years ago
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Some genetic disorders can be caused by mutations › These mutations can occur within the DNA of a chromosome or they can occur to the chromosome its self
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(When a portion of the DNA is deleted or removed from the chromosome) Example: › ATCGGCTA › CGGCTA The “AT” fragment was deleted
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Original: the fat cat ate the wee rat Deletion: the fat ate the wee rat The sentence is missing a word › Still readable, however
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Original: ATG CTA CAG GGA Deletion: ATG CAG GGA OOriginal strand: Met-Leu-Glu-Gly MMutated strand: Met-Glu-Gly
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((When a portion of the chromosome is duplicated or repeated) EExample: ›T›T GACCATG ›T›T GACCATGTG TThe “TG” fragment was duplicated (or copied) at the end
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Original: the fat cat ate the wee rat Insertion: the fat cat ate the the wee rat TThe sentence is still mostly readable
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Original: ATG CTA CAG GGA Duplication: ATG CTA CAG CAG GGA OOriginal strand: Met-Leu-Glu-Gly MMutated strand: Met-Leu-Glu-Glu-Gly
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(When a portion of the DNA is inverted or switched around in the chromosome) Example: › GTCATACCGT › GTTACACCGT The “CAT” fragment flipped around to “TAC”
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Original: the fat cat ate the wee rat Inversion: the fat tar eew eht eta tac TThe sentence is now almost completely unreadable
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Original: ATG CTA CAG GGA Inversion: ATG AGG GAC ATC OOriginal strand: Met-Leu-Glu-Gly MMutated strand: Met-Arg-Asp-Iso
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((When a portion of the DNA in the chromosome is replaced or substituted by a different base pair) EExample: ›G›G ATTACA ›G›G ATTGCA TThe “A” was replaced with a “G”
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Original: the fat cat ate the wee rat Mutation: the fat hat ate the wee rat TThe substitution changed the meaning of the sentence, but it is still readable
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Original: ATG CCG ATA GGA Substitution: ATG CCG CTA GGA OOriginal strand: Met-Pro-Iso-Gly MMutated strand: Met-Pro-Glu-Gly
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((When a nitrogen base is inserted into the original strand of DNA) EExample: ›T›T AGCAT ›T›T AGCGAT NNote that an extra “G” was inserted
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Original: the fat cat ate the wee rat Insertion: the fat cat xlw ate the wee rat TThe meaning of the sentence is still somewhat clear
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Original: ATG CTA CAG GGA Insertion: ATG CTA TAG CAG GGA OOriginal strand: Met-Leu-Glu-Gly MMutated strand: Met-Leu-STOP
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RRemember that these nitrogen bases code for amino acids ›T›The amino acids together make proteins OOne wrong letter can change all the amino acids after it
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Original: the fat cat ate the wee rat Frame-Shift: the fat caa tet hew eer at TThe deletion of the “ t” completely changed the meaning of the sentence NNot only is the one word changed, every other word after i t is changed!
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Original: ATG CTA CAG GGA TAA Frame-Shift: ATG CTC AGG GAT AA OOriginal strand: Met-Leu-Glu-Gly-Stop MMutated strand: Met-Leu-Arg-Asp
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What does a mutation in DNA actually change? › Changes a protein sequence! Bad Science!
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Everything still has to obey those pesky laws of physics! › No protein will give you telekinesis, flying, shooting lasers, growing super-huge and knowing ninjutsu, etc…
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MMutations happen TThey happen with great regularity AAlmost all mutations are neutral OOf the remainder, benefit or harm depends on circumstances
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