Human Genome Teacher Guide Teacher Guide
Investigation 7: The Human Genome Blueprint
Pacing
5 Blocks
Anchoring Phenomenon
Why do some people have extra fingers (Polydactyly)? This investigation tracks how a dominant mutation travels through a family and how we use karyotypes and biotech to see it.
Inheritance
Autosomal Dominant (Rare).
Mutation
Numerical vs Structural.
Analysis
Gel Electrophoresis size detection.
Experience Flow
1
Human Genetics (Blocks 1-2):
Pedigree Analysis of the Polydactyly trait. Focus: Dominant vs Recessive logic.
2
Chromosomal Disorders (Blocks 3-4):
Numerical (Nondisjunction) and Structural (Deletion/Duplication) Mutations.
3
The Genome Lab (Block 5):
Verification through Gel Electrophoresis. Focus: Size-based separation.
Monitoring Guide
Pedigree Look-Fors
Ensure students don't confuse Dominant with Common. Polydactyly is dominant but rare. If a child is affected, at least one parent MUST be affected.
Karyotype Look-Fors
Students should scan for trisomy (3 copies) or monosomy (1 copy). Aneuploidy is a whole-chromosome numerical error. Link this to meiotic errors (nondisjunction).
Investigation Zone Summary
Each zone aligns with one of the three Experiences above.
Zone 1: Pedigree Sleuth
Genotypes and Probability tracking for the anchoring phenomenon trait.
Zone 2: Chromosomal Clinic
Diagnosis of Numerical (Trisomy 21) and Structural (Deletion/Duplication) mutations.
Zone 3: Biotech Lab
Gel fragment analysis based on physical size changes from structural mutations.
Human Genome Answer Key 7 Master Answer Key
Investigation 7: The Human Genome Blueprint
Teacher Resource
1
Zone 1: Pedigree Sleuth
Genotype Assignments
I-1: pp (Normal male)
I-2: Pp (Affected female - must be heterozygous because she has normal children)
II-3: Pp (Affected - has a normal child III-2)
III-1: Pp (Affected)
III-2: pp (Normal)
Probability Solution
If III-1 (Pp) marries a normal person (pp):
Pp
pp
Pp
pp
Result: 50% chance of affected children.
2
Zone 2: Chromosomal Clinic
Part A: Karyotype Diagnosis
Total Count: 47 chromosomes
Sex: Male (XY)
Numerical Error: Trisomy 21 (3 copies of pair 21)
Condition: Down Syndrome
Part B: Structural Mutations
Deletion: Removes DNA segment. Chromosome gets shorter.
Duplication: Adds DNA segment. Chromosome gets longer.
Lab Connection: Deletions create smaller fragments which travel faster/further in gel.
3
Zone 3: Biotech Lab
Gel Results
Patient A has the Deletion mutation.
Evidence: Patient A's DNA band traveled the furthest from the negative wells. This indicates a smaller fragment. Since Deletions remove DNA, the fragment is smaller and can navigate the gel mesh faster.
Synthesis Answer
A Duplication would be Closer to the wells.
Reasoning: Duplications add DNA, making the fragment larger. Larger fragments are slowed down more by the gel mesh, causing them to move less distance toward the positive end.
Zone 3 Biotech Investigation Worksheet 03
Biotech Lab
Zone 3: Verification
Investigator: ________________
The Evidence: Gel Electrophoresis
Scientists use electricity to separate DNA by size. Smaller fragments move further through the gel mesh toward the positive (+) end.
Lane 1: Normal Lane 2: Patient A Lane 3: Patient B
(-) Wells (+) End
Task 1: Band Identification
Which patient has a Deletion mutation? Justify using band position.
Patient ID:
Reasoning:
Task 2: Theoretical Physics
Explain how the "mesh" of the gel causes fragments to separate by size.
Level Up: If a mutation was an Inversion (where DNA flips but doesn't change size), would it look different on a gel? Why or why not?
Zone 2 Chromosomes Investigation Worksheet 02
Chromosomal Clinic
Zone 2: Mutations
Investigator: ________________
Evidence Card: Patient 02-B
Karyotype Analysis
1
2
3
4
5
6
PAIRS 7 - 20 (ALL NORMAL)
21
22
23 (XY)
Investigation Task
Count total chromosomes. Diagnose the disorder.
Structural Error Analysis
Deletion
DNA segment is removed. Fragment gets shorter.
Duplication
DNA segment is copied. Fragment gets longer.
Investigator Diagnosis Area
Total Chromosomes:
Biological Sex:
Official Clinical Diagnosis:
Level Up: Explain how Nondisjunction during meiosis leads to numerical errors like the one above.
Zone 1 Pedigree Investigation Worksheet 01
Pedigree Sleuth
Investigation Zone 1: Inheritance
NAME: ________________
DATE: ________________
The Evidence: Polydactyly
Polydactyly (extra digits) is an autosomal dominant trait. Use the pedigree to track the "P" allele. Shaded = Affected (P_). Unshaded = Normal (pp).
I-1 (Male)
I-2 (Female)
II-1
II-2
II-3
II-4
III-1
III-2
Task 1: Genotype Analysis
Identify the genotypes for the following individuals:
I-2:
II-3:
III-1:
III-2:
Reasoning: If II-3 is affected but had a normal child (III-2), he must be Pp. Why?
Task 2: Probability Square
If III-1 (Affected) marries a normal person (pp):
% Chance Affected:
Level Up: Could III-1 be homozygous (PP)? How would that change the result?
Human Genome Slides Deck The Phenomenon
The Mystery:
Why do some people have extra fingers or toes?
This is Polydactyly. How does the genome code for this?
🖐️
Normal vs Extra
Human Karyotypes
The Blueprint Map
A visual map of all 46 chromosomes in a human cell.
1
Count the pairs (23 total).
2
Identify biological sex (Pair 23: XX or XY).
3
Spot mutations (Numerical or Structural).
Pair 1
Pair 2
23 (XY)
Standard Notation:
Numerical Errors
Aneuploidy
Nondisjunction
Chromosomes fail to separate during Meiosis I or II.
Trisomy
3 copies of a chromosome. Total = 47.
Monosomy
1 copy of a chromosome. Total = 45.
Trisomy 21
Down Syndrome
Structural Errors
Deletion
Duplication
Inversion
Translocation
Lab Connection:
Structural mutations change the PHYSICAL SIZE of a DNA fragment.
In the Gel Lab:
Deletion = Smaller Fragment
Duplication = Larger Fragment
The Biotech Lab
DNA Separation
Using electricity to pull DNA through a gel mesh.
The Speed Rule:
Smaller = Faster
DNA moves toward the positive (+) end because DNA itself is negative (-).
Normal Mutation
(-) WELLS (+) END
Investigator Goal
Solve the Blueprint Mystery
Zone 1
Pedigree Analysis
Zone 2
Chromosomal Clinic
Zone 3
Biotech Lab
Human Genome Stations Activity 01
Pedigree Sleuth
Zone 1: Inheritance
Case Study: Polydactyly
Polydactyly is an autosomal dominant trait. Shaded = Affected (P_). Unshaded = Normal (pp).
I-1
I-2
II-1
II-2
II-3
II-4
III-1
III-2
Zone 1 Tasks
1. Deduce genotypes for all. If II-3 (affected) has a normal child (III-2), what must II-3 be?
2. If III-1 (Pp) marries a normal phenotype (pp), what is the % chance of affected children?
Legend
Normal
Affected
Female
Male
02
Chromosomal Clinic
Zone 2: Mutations
Part A: Karyotype 02-B
1
2
3
4
5
6
PAIRS 7-20 NORMAL
21
22
23 (XY)
Part B: Structural Mutation Map
Deletion
Becomes shorter
Duplication
Becomes longer
Task: If a DNA fragment is deleted, will its band on a gel be closer to the wells (-) or the end (+)? Why?
03
Biotech Lab
Zone 3: Verification
Gel Electrophoresis Results
Smaller fragments move faster through the gel mesh toward the positive (+) end.
Lane 1: Normal Lane 2: Patient A Lane 3: Patient B
(-) Wells (+) End
Observation 1
Which patient has a DELETION? Explain based on their band's distance from the wells.
Observation 2
Why do smaller fragments reach the (+) end faster than larger ones?
Genetics Investigator Worksheet Standard Investigator Logbook
Investigation 7: The Human Genome Blueprint
NAME: ________________
DATE: ________________
1
Zone 1: Pedigree Sleuth
1. Record the genotypes for the family at Zone 1 Evidence:
I-2
II-3
III-1
III-2
2. Probability Challenge: III-1 (Pp) x Normal (pp):
pp
Pp
Calculated % Affected:
Justify why a dominant trait like polydactyly is still rare in the general population.
2
Zone 2: Chromosomal Clinic
Part A: Karyotype Diagnosis
TOTAL COUNT:
SEX:
CLINICAL DIAGNOSIS:
Part B: Structural Mapping
Explain the difference between a DELETION and a DUPLICATION in terms of chromosome physical length:
3
Zone 3: Biotech Lab
Analyze the Gel Evidence:
Identify Patient with Deletion:
Patient ____
Reasoning (Size & Speed):
Genetics Investigator Worksheet Support Investigator Logbook (Support)
NAME: ________________
1
Zone 1: Pedigree Sleuth
Use the Pedigree Evidence at Station 1:
• Individual I-2 is Affected. Her genotype: _____
• Individual II-2 is Normal. Her genotype: _____
• If II-3 is Affected but has a Normal child (III-2), is he PP or Pp? __________
2
Zone 2: Chromosomal Clinic
Part A: Karyotype
Total Chromosomes: _____
Biological Sex: _____
Pair with 3 copies: _____
Diagnosis (Circle One):
TrisomyMonosomy
Part B: Mutations
Fill in the Mutation type:
DNA segment removed:
DNA segment added:
3
Zone 3: Biotech Lab
Analyze the Gel Results (Station 3 Evidence):
1. Who has the Deletion?
Patient ____
Deletion = Missing DNA = Faster moving fragment.
2. Why did it move further?
Because it is S _ _ _ _ _ _
Smaller fragments move through the gel mesh easier.
Final Conclusion
Patient A's band is at the bottom of the gel because their DNA is Lighter / Smaller.
Genetics Investigator Worksheet Challenge Investigator (Challenge)
Investigation 7: The Human Genome Blueprint
TIER: MASTERY / DOK 3
NAME: ____________________
1
Zone 1: Pedigree Analysis
Evidence Snippet
II-3 & II-4 (Affected Male x Normal Female) -> Normal Female child
1. Deductive Logic: Why MUST II-3 be heterozygous (Pp)? Use evidence from his offspring (III-2) to justify your claim.
2. Population Genetics: If a trait like Polydactyly is dominant, why is it so rare? Propose an evolutionary hypothesis for why the "p" allele remains the most common in the human gene pool.
2
Zone 2: Chromosomal Clinic
Numerical Analysis (Part A)
Claim-Evidence-Reasoning: Patient 02-B has 47 chromosomes, with 3 at pair 21. Name the diagnosis and explain the cellular error (meiosis) that caused this.
Structural Logistics (Part B)
How would a Duplication mutation affect the total base pair (bp) count of a DNA fragment? Predict how this physical change will manifest in Zone 3's electrophoresis lab.
3
Zone 3: Biotech Verification
Mathematical Proof: The Normal fragment is 5,000 bp. A deletion removed 1,000 bp. A duplication added 1,000 bp.
NORMAL: 5,000 bp
PATIENT A: bp
PATIENT B: bp
Match the patients to the bands in Station 3. Explain why Patient A's band is at the bottom of the gel.
Molecular Sieving
Explain how the agarose "mesh" acts as a physical barrier. Why does it provide better resolution for small fragments than large ones?
Human Genome Answer Key 7 Master Answer Key
Investigation 7: The Human Genome Blueprint
Teacher Resource
1
Zone 1: Pedigree Sleuth
Genotype Assignments
I-1: pp (Normal male)
I-2: Pp (Affected female - heterozygous because she has normal children)
II-3: Pp (Affected male - has a normal child III-2)
III-1: Pp (Affected)
III-2: pp (Normal)
Probability Modeling (III-1 x Normal)
pp
Pp
Pp
pp
Pp
pp
Result: 50% Affected
2
Zone 2: Chromosomal Clinic
Part A: Karyotype
Count: 47 chromosomes
Sex: Male (XY)
Numerical Error: Trisomy 21 (Pair 21)
Diagnosis: Down Syndrome
Part B: Structural
Deletion: Removes DNA segment. Chromosome gets shorter.
Duplication: Adds DNA segment. Chromosome gets longer.
Movement: Deletion = Smaller fragment = Moves further/faster.
3
Zone 3: Biotech Lab
Gel Interpretation
Patient A = DELETION mutation.
Evidence: Patient A's band is the furthest from the negative (-) wells. Since deletions remove DNA, the resulting fragment is smaller. Smaller fragments navigate the gel mesh faster than larger or normal ones.
Theoretical Summary
A Duplication (Patient B) would be closer to the wells.
Reasoning: Adding DNA (Duplication) increases the fragment size. Larger fragments encounter more resistance in the gel mesh, slowing their migration toward the positive end.
Human Genome Slides Deck The Phenomenon
The Mystery:
Why do some people have extra fingers or toes?
This is Polydactyly. How does the genome code for this?
🖐️
Normal vs Extra
Human Karyotypes
The Blueprint Map
A visual map of all 46 chromosomes in a human cell.
1
Count the pairs (23 total).
2
Identify biological sex (Pair 23: XX or XY).
3
Spot mutations (Numerical or Structural).
Pair 1
Pair 2
23 (XY)
Standard Notation:
Numerical Errors
Aneuploidy
Nondisjunction
Chromosomes fail to separate during Meiosis I or II.
Trisomy
3 copies of a chromosome. Total = 47.
Monosomy
1 copy of a chromosome. Total = 45.
Trisomy 21
Down Syndrome
Structural Errors
Deletion
Duplication
Inversion
Translocation
Lab Connection:
Structural mutations change the PHYSICAL SIZE of a DNA fragment.
In the Gel Lab:
Deletion = Smaller Fragment
Duplication = Larger Fragment
The Biotech Lab
DNA Separation
Using electricity to pull DNA through a gel mesh.
The Speed Rule:
Smaller = Faster
DNA moves toward the positive (+) end because DNA itself is negative (-).
Normal Mutation
(-) WELLS (+) END
Investigator Goal
Solve the Blueprint Mystery
Zone 1
Pedigree Sleuth
Zone 2
Mutation Clinic
Zone 3
Biotech Lab
Human Genome Stations Activity 01
Pedigree Sleuth
Zone 1: Inheritance
Case Study: Polydactyly
Polydactyly is an autosomal dominant trait. Shaded = Affected (P_). Unshaded = Normal (pp).
I-1
I-2
II-1
II-2
II-3
II-4
III-1
III-2
Zone 1 Tasks
1. Deduce genotypes. If II-3 is affected but has a normal child (III-2), what must II-3 be?
2. If III-1 (Pp) marries a normal phenotype (pp), what is the % chance of affected children?
Legend
Normal
Affected
Female
Male
02
Chromosomal Clinic
Zone 2: Mutations
Part A: Karyotype 02-B
1
2
3
4
5
6
PAIRS 7-20 NORMAL
21
22
23 (XY)
Part B: Structural Mutations
Deletion
Duplication
Task: Which mutation (Deletion or Duplication) makes a fragment smaller and move further in Zone 3?
03
Biotech Lab
Zone 3: Verification
Gel Electrophoresis Model
Normal Patient A Patient B
(-) Wells (+) End
Conclusion: Based on the gel, Patient A has a DELETION because their fragment moved the furthest.
Genetics Investigator Worksheet Challenge Investigator (Challenge)
Investigation 7: The Human Genome Blueprint
TIER: MASTERY / DOK 3
NAME: ____________________
1
Zone 1: Pedigree Analysis
Evidence Case: Polydactyly
I-1/I-2
III-1/III-2
1. Deductive Logic: Why MUST Individual I-2 (affected female) be heterozygous (Pp) rather than homozygous dominant (PP)? Support your answer with evidence from her Generation II children.
2. Population Genetics: Propose a biological reason why a dominant allele like Polydactyly might remain rare in a population. (Think: Natural Selection or Founder Effect).
2
Zone 2: Mutation Clinic
Part A: Numerical (Aneuploidy)
Patient 02-B presents with 47 chromosomes (Trisomy 21). Identify the specific meiotic event (Nondisjunction) that led to this condition. Describe the error in chromosome separation.
Part B: Structural Logistics
A Deletion removes 500 base pairs from Chromosome 4. Explain how this mutation affects the physical movement of DNA fragments in the Zone 3 Lab. Predict if the band will be closer to the wells (-) or the positive end (+).
3
Zone 3: Biotech Lab
Physical Sieve Analysis
Agarose gels act as a molecular mesh. Why do smaller DNA fragments (like Patient A's deletion) navigate this mesh faster than larger ones? Mention the concept of resistance in your answer.
Mathematical Prediction
Normal Fragment: 5,000 bp
Patient A Deletion: -1,000 bp
Calculated Fragment: _________ bp
Based on Station 3 Evidence, which patient (A or B) has the band furthest from the wells?
Zone 1 Pedigree Investigation Worksheet 01
Pedigree Sleuth
Investigation Zone 1: Inheritance
NAME: ________________
Case Evidence: Polydactyly
Polydactyly (extra digits) is autosomal dominant. Shaded = Affected (P_). Unshaded = Normal (pp).
I-1 I-2 II-1 II-2 II-3 II-4 III-1 III-2
Task 1: Genotype Deduction
Record the genotype (PP, Pp, or pp) for each:
I-2: _______
II-3: _______
III-1: _______
III-2: _______
Explain the Logic:
Why MUST II-3 be heterozygous? (Look at his children/parents).
Task 2: Probability Challenge
If III-1 (Pp) marries a normal person (pp), what is the likelihood their child is affected?
Result %:
Mastery: Why doesn't a dominant trait eventually take over 100% of the population? Propose a reason.
Zone 3 Biotech Investigation Worksheet 03
Biotech Lab
Zone 3: Verification
NAME: ________________
Case Evidence: Gel Electrophoresis
Smaller fragments move further through the gel mesh toward the positive (+) end.
Normal Patient A Patient B
(-) Wells (+) End
Task 1: Mutation ID
Which patient (A or B) has a Deletion? Justify using band position relative to Normal.
Patient:
Reasoning:
Task 2: Molecular Principles
How does the gel "mesh" cause fragments to separate by size? (Mention resistance).
Level Up: If a mutation was an Inversion (where DNA flips but doesn't change size), would it look different on a gel? Why?
