MUTATIONS Changes in DNA that affect genetic information.
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Transcript of MUTATIONS Changes in DNA that affect genetic information.
MUTATIONSMUTATIONS
Changes in Changes in DNADNA that affect genetic that affect genetic informationinformation
Gene MutationsGene Mutations
Point Mutations – changes Point Mutations – changes in in one or a fewone or a few nucleotides nucleotides SubstitutionSubstitution
THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT THE FAT HAT ATE THE RATTHE FAT HAT ATE THE RAT
InsertionInsertion THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT THE FAT CAT XLW ATE THE RATTHE FAT CAT XLW ATE THE RAT
DeletionDeletion THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT THE FAT ATE THE RATTHE FAT ATE THE RAT
Missense MutationMissense Mutation
A point mutation that A point mutation that causes a change in causes a change in codoncodon
Entirely different Entirely different protein!protein!
Imagine you get a Imagine you get a phone number phone number incorrect..incorrect.. 555-5467 – Jeff
555-5367 -- Carl
Nonsense MutationNonsense Mutation
Causes a Causes a premature stop premature stop codoncodon
Stops the protein Stops the protein too earlytoo early
555 – Jeff555 - Carl
My Previous ResearchMy Previous Research
Nonsense Nonsense Mediated DecayMediated Decay
Prevent nonsense Prevent nonsense mutation from mutation from being transcribedbeing transcribed
Gene MutationsGene Mutations Frameshift Mutations – shifts Frameshift Mutations – shifts
the the reading framereading frame of the genetic of the genetic message so that the message so that the protein protein may not be able to perform its may not be able to perform its function.function. InsertionInsertion
THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT THE FAT HCA TAT ETH ERA TTHE FAT HCA TAT ETH ERA T
DeletionDeletion THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT TEF ATC ATA TET GER ATTEF ATC ATA TET GER AT
H
H
Chromosome MutationsChromosome Mutations Changes in number and structure of entire Changes in number and structure of entire
chromosomes chromosomes
Significance of MutationsSignificance of Mutations• Most are neutralMost are neutral
• Eye colorEye color• Birth marksBirth marks
• Some are harmfulSome are harmful• Sickle Cell AnemiaSickle Cell Anemia• Down SyndromeDown Syndrome
• Some are beneficialSome are beneficial• Sickle Cell Anemia to MalariaSickle Cell Anemia to Malaria• Immunity to HIVImmunity to HIV
What Causes Mutations?What Causes Mutations? There are two ways in which DNA can There are two ways in which DNA can
become mutated:become mutated: Mutations can be inherited. Mutations can be inherited.
Parent to childParent to child
Mutations can be acquired.Mutations can be acquired. Environmental damageEnvironmental damage Mistakes when DNA is copied Mistakes when DNA is copied
Chromosome MutationsChromosome Mutations
Down SyndromeDown Syndrome Chromosome 21 does Chromosome 21 does
not separate correctly.not separate correctly. They have 47 They have 47
chromosomes in stead chromosomes in stead of 46.of 46.
Children with Down Children with Down Syndrome develop Syndrome develop slower, may have heart slower, may have heart and stomach illnesses and stomach illnesses and vary greatly in their and vary greatly in their degree of inteligence.degree of inteligence.
Chromosome MutationsChromosome Mutations
Cri-du-chatCri-du-chat Deletion of material on 5Deletion of material on 5thth
chromosomechromosome Characterized by the cat-like Characterized by the cat-like
cry made by cri-du-chat cry made by cri-du-chat babiesbabies
Varied levels of metal Varied levels of metal handicapshandicaps
Sex Chromosome Sex Chromosome AbnormalitiesAbnormalities KlinefelterKlinefelter’’s s
SyndromeSyndrome XXY, XXYY, XXXYXXY, XXYY, XXXY MaleMale SterilitySterility Small testiclesSmall testicles Breast enlargementBreast enlargement
Sex Chromosome Sex Chromosome MutationsMutations
XXXXXX Trisomy XTrisomy X FemaleFemale Little or no visible differencesLittle or no visible differences tall staturetall stature learning disabilitieslearning disabilities limited fertility limited fertility
Mutations and DiseaseMutations and Disease
Viruses mutate fast!Viruses mutate fast! H1N1H1N1 H5N1H5N1