This document discusses various types of genetic mutations and modifications, including: - Point mutations such as base pair substitutions that can be silent, cause a different amino acid (missense), or a stop codon (nonsense) - Insertions/deletions of base pairs that can cause frameshift mutations - Triplet repeats as seen in Huntington's disease - Chromosomal abnormalities like variations in number (Down syndrome), deletions, translocations, duplications, and inversions. The document explores examples like sickle cell anemia and how genetic modifications could lead to "designer babies" in the future.

1. Transcription, TranslationTranscription, Translation
ReviewReview

2. MutationsMutations
andand
Genetic ModificationsGenetic Modifications

3. Engage: One Wrong LetterEngage: One Wrong Letter

4. Explore:Explore:
What about Mistakes??What about Mistakes??
MutationMutation
 Any genetic material changes to aAny genetic material changes to a
cellcell
 Modified Designer BabiesModified Designer Babies

5. Types of MutationsTypes of Mutations
 Point MutationsPoint Mutations
 Base Pair SubstitutionsBase Pair Substitutions
 SilentSilent
 Missense – new protein (Amino Acid Substitutions)Missense – new protein (Amino Acid Substitutions)
 Nonsense – stop codonNonsense – stop codon
 Base Pair Insertions and deletionsBase Pair Insertions and deletions
 Triplet RepeatsTriplet Repeats
 Frameshift MutationsFrameshift Mutations
 Variation in Chromosome NumberVariation in Chromosome Number
 Chromosome AbnormalitiesChromosome Abnormalities
 DeletionsDeletions
 TranslocationsTranslocations
 DuplicationsDuplications
 InversionsInversions

6. Mutations:Mutations: genetic material changes in a cellgenetic material changes in a cell
 Point mutationsPoint mutations….….
Changes in 1 or a few baseChanges in 1 or a few base
pairs in a single genepairs in a single gene
 Base-pair substitutionsBase-pair substitutions::
••silent mutationssilent mutations
no effect on proteinno effect on protein
••missensemissense
∆ to a different amino acid∆ to a different amino acid
(different protein)(different protein)
••nonsensenonsense
∆ to a stop codon and∆ to a stop codon and aa
nonfunctional proteinnonfunctional protein
 Base-pair insertions orBase-pair insertions or
deletions:deletions:
additions or losses ofadditions or losses of
nucleotide pairs in a gene;nucleotide pairs in a gene;
alters the ‘reading frame’ ofalters the ‘reading frame’ of
triplets~triplets~frameshift mutationframeshift mutation
 Mutagens:Mutagens: physical andphysical and
chemical agents that changechemical agents that change
DNADNA

7. Point MutationsPoint Mutations

8. Base-Pair SubstitutionBase-Pair Substitution
Ex) Missense MutationEx) Missense Mutation
 One Amino Acid Substituted forOne Amino Acid Substituted for
AnotherAnother
 Sickle Cell AnemiaSickle Cell Anemia
 Valine is replaced with GlutamicValine is replaced with Glutamic
AcidAcid

9. Sickle Cell AnemiaSickle Cell Anemia

10. Base Pair InsertionsBase Pair Insertions
Triplet RepeatsTriplet Repeats
 Occurs whenOccurs when
DNA is notDNA is not
copied correctlycopied correctly
and a segmentand a segment
is repeatedis repeated
 Ex) HuntingtonEx) Huntington
Disease—CAGDisease—CAG
RepeatRepeat

11. DeletionDeletion
Shifts Reading FrameShifts Reading Frame
 A deletion ofA deletion of
one or moreone or more
bases on abases on a
section of thesection of the
chromosome.chromosome.

12. Variation in Chromosome NumberVariation in Chromosome Number
 Having anyHaving any
number ofnumber of
chromosomeschromosomes
that does notthat does not
equal 23 pairs.equal 23 pairs.
 Ex) DownEx) Down
Syndrome – 3Syndrome – 3
ChromosomeChromosome
21’s21’s

13. Chromosome AbnormalitiesChromosome Abnormalities

14. TranslocationsTranslocations
 When one piece ofWhen one piece of
a chromosomea chromosome
breaks off andbreaks off and
attaches toattaches to
anotheranother
chromosomechromosome

15. DuplicationsDuplications
 Occurs during crossing over andOccurs during crossing over and
one chromosome ends up withone chromosome ends up with
more genes than it received.more genes than it received.

16. InversionsInversions
 A reversal in the order of aA reversal in the order of a
segment of a chromosomesegment of a chromosome

17. Heredity, Mutations, andHeredity, Mutations, and
Inheritable DiseasesInheritable Diseases

18. ElaborationElaboration
 The next several slides willThe next several slides will
show different types ofshow different types of
mutations.mutations.
 Name each of the followingName each of the following
mutations.mutations.

19. What Type of Mutation?What Type of Mutation?

25. Elaboration 2Elaboration 2
 The next several slides will giveThe next several slides will give
you information concerning ayou information concerning a
particular mutation. On yourparticular mutation. On your
paper describe the overall affectpaper describe the overall affect
this mutation may cause..this mutation may cause..

30. Elaboration 2Elaboration 2
 You will watch the movieYou will watch the movie
Lorenzo’s Oil and complete theLorenzo’s Oil and complete the
film guide questions.film guide questions.
 This film will review severalThis film will review several
concepts we have alreadyconcepts we have already
covered and will introducecovered and will introduce
several new concepts to beseveral new concepts to be
learned.learned.

31. Genetic ModificationGenetic Modification
Where can it lead?Where can it lead?