Warm ups: Warm ups: 1. 1. How many base pairs are in How many base pairs are in DNA? List them… DNA? List them… 2. 2. What is the shape of the DNA What is the shape of the DNA molecule? molecule? 3. 3. What is DNA replication? What is DNA replication?
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Warm ups: 1.How many base pairs are in DNA? List them… 2.What is the shape of the DNA molecule? 3.What is DNA replication?
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Warm ups:Warm ups:
1.1. How many base pairs are in DNA? List How many base pairs are in DNA? List them…them…
2.2. What is the shape of the DNA What is the shape of the DNA molecule?molecule?
3.3. What is DNA replication?What is DNA replication?
Don’t let this happen to you!!
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
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
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
Chromosome MutationsChromosome Mutations
Albinism Albinism Mutation on a gene on Mutation on a gene on
chromosome 11. chromosome 11. No production of melanin – No production of melanin –
coloring of skin, hair, and eye cellscoloring of skin, hair, and eye cells Sensitive to sunlight, eye Sensitive to sunlight, eye
problems. No mental disabilitiesproblems. No mental disabilities Can happen to all animalsCan happen to all animals
More Albino animals! More Albino animals! Click here on the picture!Click here on the picture!
Sex Chromosome Sex Chromosome AbnormalitiesAbnormalities Klinefelter’s Klinefelter’s
SyndromeSyndrome XXY, XXYY, XXXYXXY, XXYY, XXXY MaleMale SterilitySterility Small testiclesSmall testicles Breast enlargementBreast enlargement
Sex Chromosome Sex Chromosome AbnormalitiesAbnormalities
XYY SyndromeXYY Syndrome Normal male traitsNormal male traits Often tall and thinOften tall and thin Associated with antisocial and behavioral Associated with antisocial and behavioral
problemsproblems
Sex Chromosome Sex Chromosome MutationsMutations
Turner’s SyndromeTurner’s Syndrome XX FemaleFemale sex organs don't sex organs don't
mature at mature at adolescenceadolescence
sterilitysterility short stature short stature
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
Other mutations!Other mutations!
Some mutations even Some mutations even make it on SNL!make it on SNL!
Exit slipExit slip
Five finger summary: trace your hand on a Five finger summary: trace your hand on a piece of paper. In the palm, place the word piece of paper. In the palm, place the word mutation and the definition. In each finger, mutation and the definition. In each finger, give a type of mutation.give a type of mutation.