mutations and genetic modifications teks bio 6c. eagle zone (explain)- don’t be lazy! use a book...

Mutations Mutations and and

Genetic ModificationsGenetic ModificationsTEKS BIO 6CTEKS BIO 6C

Eagle Zone (Explain)- Eagle Zone (Explain)- don’t be lazy! don’t be lazy!

Use a book if you don’t know the answerUse a book if you don’t know the answer

Use the words codon, amino Use the words codon, amino acids, and protein in ONE acids, and protein in ONE sentence which describes their sentence which describes their association with each other.association with each other.

Why does DNA not participate Why does DNA not participate directly in protein production?directly in protein production?

What is a mutation?What is a mutation? Are all mutations harmful? Why Are all mutations harmful? Why

or Why not?or Why not? Can mutation be helpful? How?Can mutation be helpful? How?

Engage: One Wrong LetterEngage: One Wrong Letter

Explore:Explore:What about Mistakes??What about Mistakes??

MutationMutation Any changes to the genetic Any changes to the genetic

material of a cellmaterial of a cell

Modeling Chromosomal Mutations Modeling Chromosomal Mutations (coloring activity)(coloring activity)

MutationsMutations

How can mutation occur?How can mutation occur? Simple replication errors in DNASimple replication errors in DNA Environmental MutagensEnvironmental Mutagens

How Mutations Happen

http://learn.genetics.utah.edu/content/extras/molgen/mutation_haplotype.html

Types of MutationsTypes of Mutations

Point Mutations Point Mutations Base Pair SubstitutionsBase Pair Substitutions

SilentSilent Missense – new protein (Amino Acid Substitutions)Missense – new protein (Amino Acid Substitutions)

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

Point MutationsPoint Mutations

Potential Results of Point MutationPotential Results of Point Mutation Look at your codon chart or codon Look at your codon chart or codon

wheel.wheel. What would happen if the following What would happen if the following

Point Mutation Occurred:Point Mutation Occurred: CCACCACCCCCC GGAGGAGGUGGU UCUUCUUCAUCA Amino acid meaning was not altered Amino acid meaning was not altered Silent mutationSilent mutation

Potential Result of Point MutationPotential Result of Point Mutation

One Amino Acid Substituted for One Amino Acid Substituted for AnotherAnother

Sickle Cell AnemiaSickle Cell Anemia Valine is replaced with Glutamic AcidValine is replaced with Glutamic Acid

Point Mutations:Point Mutations:Frame ShiftFrame Shift

One or more bases are inserted or deleted into the One or more bases are inserted or deleted into the sequence of the genesequence of the gene

How many letters of DNA can a ribosome read at one How many letters of DNA can a ribosome read at one time?time? three letter "words” three letter "words” adding or removing one letter changes each subsequent “word” adding or removing one letter changes each subsequent “word”

These mutation can make the DNA meaninglessThese mutation can make the DNA meaningless shortened and functionless protein shortened and functionless protein

DeletionDeletionFrame ShiftsFrame Shifts

A deletion of A deletion of one or more one or more bases on a bases on a section of the section of the chromosome.chromosome.

Base Pair Insertions Base Pair Insertions (Triplet Repeats)(Triplet Repeats)

Occurs when Occurs when DNA is not DNA is not copied correctly copied correctly and a segment and a segment is repeatedis repeated

Ex) Huntington Ex) Huntington Disease—CAG Disease—CAG RepeatRepeat

Variation in Chromosome NumberVariation in Chromosome Number

Having any Having any number of number of chromosomes chromosomes that does not that does not equal 23 pairs.equal 23 pairs.

Ex) Down Ex) Down Syndrome – Syndrome – 3 Chromosome 3 Chromosome 21’s21’s

Chromosome AbnormalitiesChromosome Abnormalities

-Translocations-Translocations-Duplications-Duplications-Inversions-Inversions

TranslocationsTranslocations

When one piece of When one piece of a chromosome a chromosome breaks off and breaks off and attaches to attaches to another another chromosomechromosome

DuplicationsDuplications

Occurs during crossing over and Occurs during crossing over and one chromosome ends up with one chromosome ends up with more genes than it received.more genes than it received.

InversionsInversions A reversal in the order of a A reversal in the order of a

segment of a chromosomesegment of a chromosome

Heredity, Mutations, and Heredity, Mutations, and Inheritable DiseasesInheritable Diseases

Elaboration 1Elaboration 1

The next several slides will give The next several slides will give you information concerning a you information concerning a particular mutation. On your particular mutation. On your paper describe the overall affect paper describe the overall affect this mutation may cause.this mutation may cause.

DNA Sentence DNA Sentence - THE FAT CAT ATE THE WEE RAT - THE FAT CAT ATE THE WEE RAT Mutation -Mutation - THE FAT HAT ATE THE WEE RAT THE FAT HAT ATE THE WEE RAT

If this was a DNA sequence, what would this type of If this was a DNA sequence, what would this type of mutation be called?mutation be called?

Could this change cause the polypeptide sequence to Could this change cause the polypeptide sequence to change? How?change? How?

If this type of mutation occurred, what, if any, might be If this type of mutation occurred, what, if any, might be the possible consequence for the organism?the possible consequence for the organism?


Original Sample Gene Original Sample Gene - THE FAT CAT ATE THE WEE RAT - THE FAT CAT ATE THE WEE RAT Mutation -Mutation - THE FAT KAT ATE THE WEE THE FAT KAT ATE THE WEE

RATRAT


Was the meaning of the gene sentence altered? Was the meaning of the gene sentence altered? If this type of mutation occurred, would there be any If this type of mutation occurred, would there be any

consequence for the organism?consequence for the organism?


Original Sample Gene Original Sample Gene - THE FAT CAT ATE THE WEE RAT - THE FAT CAT ATE THE WEE RAT Mutation -Mutation - THE FAT CAA TET HEW EER THE FAT CAA TET HEW EER

ATAT





Original Sample Gene Original Sample Gene - THE FAT CAT ATE THE WEE RAT - THE FAT CAT ATE THE WEE RAT Mutation -Mutation - THE FAT ATE THE WEE RAT THE FAT ATE THE WEE RAT






Original Sample Gene Original Sample Gene - THE FAT CAT ATE THE WEE RAT - THE FAT CAT ATE THE WEE RAT Mutation -Mutation - THE FAT CAT XLW ATE THE WEE THE FAT CAT XLW ATE THE WEE

RATRAT




Elaboration 2Elaboration 2

You will watch the movie You will watch the movie Lorenzo’s Oil and complete the Lorenzo’s Oil and complete the film guide questions.film guide questions.

This film will review several This film will review several concepts we have already concepts we have already covered and will introduce covered and will introduce several new concepts to be several new concepts to be learned.learned.

EvaluationEvaluation

The next several slides will The next several slides will show different types of show different types of mutations.mutations.

In your lab book, name each of In your lab book, name each of the following mutations.the following mutations.

What Type of Mutation?What Type of Mutation?

Genetic ModificationGenetic ModificationWhere can it lead?Where can it lead?

Eagle Zone- Complete this Eagle Zone- Complete this orally-5 minutesorally-5 minutes

Review questions:

How many bases does it take to make a codon?3

What are the building blocks of proteins?Amino acids

What is used to look up amino acids codes?mRNA codon chart

Evaluate 2- PICTURE IT!Modeling Mutations Card Activity

• Students will receive cards, representing nucleotides, and line the cards up in a particular genetic sequence

PART 1• Students will use colored paper to write the mutated sequences

for these mutations:– Deletion– Insertion (insert any new base into the sequence)– Base Repeat (repeat any single base 3 times)

• Take a picture of the sequence after completing each mutation

PART 2• Students will use colored paper to:

– Write the mRNA sequence– Write the amino acid sequence

• Take a picture of these sequences when complete

TEKS BIO 6DTEKS BIO 6D

Karyotyping and Karyotyping and PedigreesPedigrees

What is a KaryotypeWhat is a Karyotype

A Karyotype isA Karyotype is An organized An organized

profile of a profile of a person’s person’s chromosomes chromosomes represented by represented by a picture of the a picture of the person’s person’s individual individual chromosomeschromosomes

CharacteristicsCharacteristics Chromosomes are Chromosomes are

arranged and numbered arranged and numbered by size, banding by size, banding pattern, and centromere pattern, and centromere positionposition

Size ranges from Size ranges from largest chromosome to largest chromosome to smallest chromosomesmallest chromosome

Reading Chromosomes

What is the purpose of a karyotype?What is the purpose of a karyotype?To help scientists quickly identify chromosomal To help scientists quickly identify chromosomal

alterations that may result in a genetic disorderalterations that may result in a genetic disorder

CLASS PRACTICE

Elaborate/Extend

•Class practice: match the chromosomes with their correct sister in the online game

•Karyotyping Activity: Match chromosome parts in the envelope with the karyotype your group is given. This activity will help you practice understanding what causes genetic disorders and will serve as an introduction to mutations

PedigreesPedigrees

Molecular Genealogy Animation

What is a pedigree?What is a pedigree?•similar to a family treesimilar to a family tree•Shows genotypes and phenotypes of Shows genotypes and phenotypes of a genetic trait through several a genetic trait through several generations of a familygenerations of a family

Pedigree AnalysisPedigree Analysis

Autosomal Recessive InheritanceAutosomal Recessive Inheritance a pattern of inheritance resulting from the a pattern of inheritance resulting from the

transmission of a recessive allele on an autosome (a transmission of a recessive allele on an autosome (a chromosome other than a sex chromosome)chromosome other than a sex chromosome)

Males and females are affected with equal frequencyMales and females are affected with equal frequency There may be no family history of the trait; it becomes There may be no family history of the trait; it becomes

manifest when two carriers have a child who is manifest when two carriers have a child who is homozygous recessivehomozygous recessive

Examples are:Examples are: Cystic fibrosis, phenylketonuria, and galactosemiaCystic fibrosis, phenylketonuria, and galactosemia

Pedigree AnalysisPedigree Analysis

Autosomal Dominant InheritanceAutosomal Dominant Inheritance a pattern of inheritance in which the transmission of a a pattern of inheritance in which the transmission of a

dominant allele on an autosome causes a trait to be dominant allele on an autosome causes a trait to be expressedexpressed

Males and females are affected with equal frequencyMales and females are affected with equal frequency If one parent is homozygous for the dominant allele, If one parent is homozygous for the dominant allele,

all of the children will express the traitall of the children will express the trait Examples:Examples:

Achondroplasia, osteogenesis imperfecta, polydactyly, Achondroplasia, osteogenesis imperfecta, polydactyly, Marfan's syndrome, and some neuromuscular disordersMarfan's syndrome, and some neuromuscular disorders

Elaborate/ExtendElaborate/Extend

Family Pedigrees activityFamily Pedigrees activity

Utah website for practice and more information on your disorder:

http://learn.genetics.utah.edu/

ExplainExplainMeiosis- Making Reproductive Meiosis- Making Reproductive Cells (Sperm and Eggs)Cells (Sperm and Eggs)

Draw the chart into your lab book. Fill in the Draw the chart into your lab book. Fill in the chart as we watch the animation.chart as we watch the animation.

Meiosis Animation

Event Mitosis Meiosis

Two cell divisions

Centrioles appear

Chromosomes pair up

Spindle fibers form

Cytokinesis

Two daughter cells

Four daughter cells

Explore- Modeling Meiosis- Explore- Modeling Meiosis- Straw activityStraw activity

Use yarn to represent cell Use yarn to represent cell membrane and nuclear membrane and nuclear membrane (when present)membrane (when present)

Cut out straws of different colors Cut out straws of different colors to represent the phases of to represent the phases of meiosis 1 and meiosis 2.meiosis 1 and meiosis 2. Use your Phases of Meiosis notes Use your Phases of Meiosis notes

as a guideas a guide

mutations and genetic modifications teks bio 6c. eagle zone (explain)- don’t be lazy! use a book...

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