1. 23 chromosomes in 23 chapters By Mr. Swart’s Biology Students
The Human Genome
23 chromosomes in 23 chapters
By Mr. Swart’s
Biology Students

2. A Genome is like a Book 23 Chapters: 23 types of CHROMOSOMES
Stories within the Chapters: GENES
Key Events: EXONS
Words: CODONS (all composed of 3 letters)
Letters: DNA BASES (A, T, C or G)
Typos: MUTATIONS
Details of unknown significance: Introns
Can be photocopied: REPLICATION
Can read itself: TRANSLATION

3. Chromosome Assignments – P1
Student 1 2 3 4 5 6 7 8 9 10 11 12
Chromosome
Student 13 14 15 16 17 18 19 20 21 22 X Y

4. Chromosome Assignments – P2
Student 1 2 3 4 5 6 7 8 9 10 11 12
Chromosome
Student 13 14 15 16 17 18 19 20 21 22 X Y

5. Chromosome Assignments – P3
Student 1 2 3 4 5 6 7 8 9 10 11 12
Chromosome
Student 13 14 15 16 17 18 19 20 21 22 X Y

6. Chromosome Assignments – P4
Student 1 2 3 4 5 6 7 8 9 10 11 12
Chromosome
Student 13 14 15 16 17 18 19 20 21 22 X Y

7. Chromosome Assignments – P5
Student 1 2 3 4 5 6 7 8 9 10 11 12
Chromosome
Student 13 14 15 16 17 18 19 20 21 22 X Y

8. What does this protein make up or do?
Chapter 1: Chromosome 1
DNA Sequence
Chromosome
1228 bp
Name of Protein 1
Name of Gene
myocilin
GLC1A
transcription
Amino acid sequence
mRNA
490 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
may cause increased pressure in the eye by obstructing the aqueous outflow
Condition/Disease
Glaucoma

9. Description of Glaucoma
Symptoms and characteristics
Glaucoma is an eye disease in which the fluid pressure inside the eyes slowly rises, leading to loss of vision and/or blindness.
At first, there are no symptoms
If glaucoma remains untreated, people may miss objects to the side and out of the corner of their eye, progressing to tunnel vision and blindness.
Glaucoma is detected through a comprehensive eye exam.
Normal Vision
As viewed by a person with glaucoma
Pictures used with permission from URL:

10. Description of Glaucoma (cont.)
Who is affected? Anyone, but the following have a higher risk:
African Americans over the age of 40
Everyone over the age of 60, especially Mexican Americans
People with a family history of glaucoma
Outlook or quality of life
With early treatment, eyes may be protected from serious vision loss
Without treatment, individuals develop tunnel vision (only straight-ahead vision) and, over time, no vision (blindness).
Treatments include medicine, laser procedure and/or surgery.
There is no cure for glaucoma; Vision that is lost cannot be restored.
Researcher: Jane Sample

11. References
NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL:
NCBI. Entrez [online] [cited 2004 July 14]. Available at URL:
National Eye Institute. Glaucoma: What you should know [online] [cited July 14]. Available at URL:

12. Paired Box Protein Pax-3 What does this protein make up or do?
Chapter 2: Chromosome 2
DNA Sequence
Chromosome
1038 bp
Name of Protein
Name of Gene 2
Paired Box Protein Pax-3
PAX3
transcription
Amino acid sequence
mRNA
479 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
Involved in transcription activation
Condition/Disease
Waardenburg Syndrome

13. Description of Waardenburg Syndrome
Symptoms and characteristics
Wide bridge of the nose
Differences in pigments such as 2 different colored eyes
White eyelashes and chunk of hair (forelock) in front
Premature graying of the hair
Some form of cochlear deafness
There are at least 4 types of this disorder

14. Description of Waardenburg Syndrome (cont.)
Who is affected?
Infants are born with this disorder
Outlook or quality of life
Depends on degree of hearing loss as there is great variation
Half with the gene have no hearing loss
1 out of 5 have severe enough loss to require some aid to communicate
Some are deaf in one ear and not the other
Some are totally deaf
Researcher: Joe Sample

15. References
Boys Town National Research Hospital. Information on Hearing Loss: Genetics and Deafness—Waardenburg Syndrome [online] [cited 2004 July 14]. Available at URL:
NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL:
NCBI. Entrez [online] [cited 2004 July 14]. Available at URL:
NIDCD. Waardenburg Syndrome [online] [cited 2004 July 14]. Available at URL:

16. Chapter 23: Chromosome X X A Cell Nucleus 14082 bp dystrophin 3562 aa
DNA Sequence
Chromosome
14082 bp
Name of Protein X
Name of Gene
dystrophin
DMD
transcription
Amino acid sequence
mRNA
3562 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
Strengthens muscle cells
Condition/Disease
Duchenne Muscular Dystrophy

17. Description of Duchenne Muscular Dystropy
Symptoms and characteristics
Generalized weakness and muscle wasting, affecting trunk and limb muscles first
Calves are often enlarged
Disease progresses slowly but will affect all voluntary muscles
Usually unable to walk around the age of 12
Early signs include delay in walking, frequent falling, and difficulty getting up from a sitting or lying position
Personal story can be found on the CDC’s Web site (URL:

18. Description of Duchenne Muscular Dystropy (cont.)
Who is affected?
Affects 1 in 3500 boys worldwide.
Is usually diagnosed when a child is 3 to 6 years of age
Outlook or quality of life
Usually fatal in the teens or early 20s, often due to respiratory and heart problems
There are not cures, only a few treatments to slow the deterioration of the muslces
Adaptive technologies and assistance are needed to improve quality of life
Researcher: Elizabeth Sample

19. References
CDC. Duchenne/Becker Muscular Dystrophy [online] [cited 2004 July 14]. Available at URL:
MDA. Duchenne Muscular Dystrophy [online] [cited 2004 July 14]. Available at URL:
NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL:
NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: