UNIT 6: Genetics

Level 1-10 point activities Level 2-15 point

activities

Level 3-20 point activities

Bio 3.2.2 Predict offspring

ratios based on a variety of

inheritance patterns.

Focus on patterns of

inheritance

Inheritance Patterns Concept

Map

and

Read p.114, 116 and 117 and

complete p. 115, 119 (q. 1-8) and

120

Research real human traits

for each pattern of

inheritance (dominance, co-

dominance, incomplete

dominance, multiple alleles,

and sex-linked traits) and

create a foldable with a

definition, punnett square,

and your example.

Design your own organism

project.

Bio 3.2.2 Predict offspring

ratios based on a variety of

inheritance patterns.

Focus on genetic disorders and

karyotypes.

Build your own Karyotype

activity

Create a pamphlet

explaining a chromosomal

disorder (ex: Turner’s,

Klinefelter, Down’s).

Include a drawing of the

karyotype, symptoms and

possible treatments.

Genetic disorder research

project.

Bio 3.2.2 Predict offspring

ratios based on a variety of

inheritance patterns (including

dominance, co-dominance,

incomplete dominance,

multiple alleles, and sex-linked

traits).

Focus on sex-linked traits and

pedigrees

Pedigree Practice Sheet Create a pedigree for the

“I am my own Grandpa”

song and explain the

pedigree and relationships

shown.

Create a pedigree (for either

your own family or a

trait/family you have

researched or made up). It

must show a trait that is

passing through, and it must

show the pattern of

inheritance, genotypes and a

sample punnett square. Bio 3.2.3 Explain how the

environment can influence the

expression of genetic traits.

o explain the idea of nature vs.

nurture

o evaluate examples of nature

vs. nurture in the expression of

traits (ie. twin studies, PKU,

heart disease)

Genetic Diseases Concept Map Diagnosing Patients Read “Genome” excerpt and

write a ¾ page summary.

Include a paragraph

explaining how environment

and genetics has impacted

your own phenotype

(personality, appearance,

health, etc.) and those of

people you know.

Vocabulary: karyotype,

autosome, sex chromosome,

abnormal/normal, disorder,

genetics, inheritance, allele,

dominant, recessive, phenotype,

genotype, heterozygous, hybrid,

homozygous, purebreed, ratio,

gene, trait, gametes, zygote,

fertilization, pigment, test cross,

homozygous recessive,

incomplete dominance,

codominance, multiple alleles,

sex-linked traits; color-

blindness, hemophilia,

polygenic traits, sickle cell

anemia, malaria, cystic fibrosis,

and Huntington’s disease

a. Cut pictures or words from

magazines or newspapers that

represent the meaning of the

vocabulary words.

b. Create a graffiti or drawing of

each word to show its meaning.

c. Create flashcards with a

definition and picture.

a. Pretend you are the

teacher. Create a “quiz”

about the vocabulary

words (must include

answer key).

b. Create a crossword

puzzle or wordsearch

(don’t list words, provide

hints of words to search

for) MUST INCLUDE

ANSWER KEY

c. Create Frayer model

flashcards

a. Create an analogy poster

to go with your vocabulary

words.

b. Create a rap, song, or

poem using the vocabulary

words.

c. Using technology come

up with your own idea for

presenting your vocabulary

words (story, children’s

picture dictionary, Quizlet,

concept map, etc).

Build your own Karyotype

In this activity, you will create a karyotype from a page of mixed chromosomes. Karyotypes are created by

matching homologous pairs and numbering them from largest to smallest. Abnormalities, such as extra or

deleted chromosomes can then be diagnosed. Pictured chromosomes will be used for this model rather than real

chromosomes, but the process is the same for real chromosomes extracted from cell or fetal samples.

Two karyotypes will be created, the first represents a normal human karyotype of a male or a female, the second

represents an abnormal karyotype. You will then compare and diagnose the abnormality present in the patient of

the second karyotype.

Normal Human Karyotype

Examine the page marked "normal" (You will receive either Normal Girl and Normal Boy sets) These

chromosomes are actually enlarged photographs of what is seen through a microscope. Note that the sex

chromosomes have been labeled for you as either X or Y chromosomes. They have been marked this way to

indicate these are the sex chromosomes. Cut out each chromosome with scissors, to make it go faster, cut them

out as squares rather than trying to cut around the margin of each chromosome.

Prepare a karyotype of these chromosomes. A karyotype is a pattern or picture of chromosomes from one cell

grouped into pairs and organized by size.

--Pair up each of the chromosomes with its homologous pair, use the size and markings on the chromosomes to

determine pairs. Temporarily put the two unshaded chromosomes aside.

--On a blank paper, arrange the chromosome pairs from largest to smallest and number them. You numbers

should range from 1(largest) to 22(smallest). Put the sex chromosomes last, this is pair #23. Glue or tape the

chromosomes to the paper in the correct order.

Sex chromosomes determine the sex of the individual. A female develops when the sex chromosomes match--

XX . A male develops if the two sex chromosomes are unmatched--XY. (These chromosomes are unshaded on

your karyotype)

1. How many total chromosomes are present in this karyotype? _____________

2. How many chromosomes are present in each cell of this human? _____________

3. Does your karyotype represent a male of a female? ________________

4. Chromosomes that are NOT sex chromosomes are called autosomes. How many total autosomes are present

in your normal karyotype? ______________

Body cells are called somatic cells. Somatic cells include the skin, liver, muscle, stomach and other bodily cells.

The karyotype you prepared is from a somatic human cell. The term diploid chromosome number refers to the

number of chromosomes in a somatic cell. The diploid number varies from species to species, however it does

not differ from somatic cell to somatic cell within the same organism. To find your diploid number, simply

count the number of chromosomes in your karyotype.

The diploid chromosome number is also called the 2n number.

4. What is the diploid chromosome number for your karyotype? _____

5. What is the 2n chromosome number for your karyotype? ____

The HAPLOID CHROMOSOME NUMBER refers to the number of chromosomes in an organisms sex cells.

Sperm in males, eggs in females. The haploid number, or 1n number is always -half- that of the diploid

number.

6. What would the haploid chromosome number for your karyotype be? ____

Abnormal Human Karyotype

--Examine the page marked "Abnormal". Look at the top corner, what Set do you have?______

Four Sets Possible: Set A | Set B | Set C |Set D |

--Prepare a second karyotype as you did the first. In this karyotype, you will discover an abnormality in the

chromosome number. Finding incorrect chromosomes numbers in human somatic cells of an unborn baby alerts

doctors to the fact that their child is abnormal and will be born with birth defects.

*If the unborn has an extra number 13 chromosome, it it born with Patau syndrome. An extra chromosome 18

results in Edward syndrome. An extra chromosome number 21 results in Down Syndrome. A missing sex

chromosome results in an X0 offspring who has Turner's syndrome. An extra X chromosome results in

Klinefelters syndrome (XXY).

7. How many chromosomes are present in the abnormal karyotype: ________

8. What is the diploid chromosome number for this karyotype: _________

9. Which chromosome pair is abnormal? __________

10. What syndrome does this unborn have? ____________

11. What sex will the unborn child be? _____

Analysis:

12. Define the following terms:

Somatic Cell

Karyotype

Diploid chromosome number

Autosome

14. Describe two types of information that can be gained about a child before it is born through a karyotype.

Genetic Disorder Research Project (20 points)

Introduction Some disorders come from the environment. For example, diseases like the flu or AIDS are caused by viruses that a person may

become infected with. Other disorders are due to mistakes in the genes. A person is born with such disorders. Such disorders are usually

inherited from the parents.

Assignment Guidelines For this project you will research a genetic disorder from the list of possible topics below. There are many genetic disorders to

choose from and you will only need to research one type. If you would like to choose a genetic disorder not found in the list, be sure to ask

your teacher before you begin your research.

When you have researched your disorder type, you will produce a Powerpoint presentation with the information you have collected.

You must also provide a copy of your powerpoint slides to your teacher.

You may do this assignment alone or in a group of two students.

Possible Topics 1. Albinism

2. Brachydactyly

3. Cat Cry Syndrome

4. Amytrophic Lateral

Sclerosis

5. Cystic Fibrosis

6. Down Syndrome

7. Edward’s Syndrome

8. Duchenne Muscular

Dystrophy

9. Hemophilia

10. Fragile X Syndrome

11. Ichthyosis

12. Ehler Danlos Syndrome

13. Marfan Syndrome

14. Klinefelter Syndrome

15. Multiple Sclerosis

16. Huntington’s Chorea

(Disease)

17. Patau Syndrome

18. Phenylketonuria

19. Tay Sachs Disease

20. Lesch Nyhan Syndrome

21. Polydactyly

22. Turner Syndrome

23. Prader Willi Syndrome

24. Sickle Cell Anemia

Questions to be Answered by Presentation These questions are to be researched for your genetic disorder. Each question should be thoroughly displayed on the slides. If you

absolutely cannot find answers to these questions, ask your teacher for substitute questions.

1. What is the name of your genetic disorder?

2. What are the specific symptoms of our genetic disorder? Include all the major symptoms.

3. What is the treatment for this disorder? Can this disorder be cured?

4. If no treatment is available, what can be done for a person with this disorder?

5. How is the disorder inherited? Is it a dominant trait, a recessive trait, a problem with the number of chromosomes or something else?

Explain fully.

6. How common is the disorder? How many people have it? How many get it each year?

7. Is there a certain race it is most common in? Is it more common in men or women?

8. How long is the average life span of a person with this disorder?

9. How is the family of a person with this disorder affected?

10. What have you learned personally from researching this disorder?

Fails to meet requirements Attempts to meet requirements Meets/Exceeds requirements

Description of

disorder and

how it is

passed to

offspring

The presentation fails to accurately

describe the disorder and/or how it is

passed on to offspring. (0 pt)

Descriptions and explanations are

mostly accurate, but difficult to

understand. Little is written in

students’ own words. (1pt)

All descriptions and explanations

are accurate and easy to

understand. Most of the content is

written in students’ own words.

(2pts)

Questions to be

answered by

presentation

The presentation fails to present the

majority of questions to be answered

listed above. (0 pts)

The presentation vaguely answers most

questions, but offers little to no

explanation. Information is unclear,

incomplete, and/or confusing. (5 pts)

The presentation explains

information about the disorder

answering questions above.

Explanations are complete/clear.

(10 pts)

Visual display

The presentation is visually

unappealing and difficult to read

and/or interpret. Karyotype/pedigree

not present. (0 pt)

The presentation’s visual display could

be enhanced by use of more color

and/or decoration. Neatness &

organization could improve the visual

display. Karyotype/pedigree is unclear.

(3 pts)

The presentation’s visual display

is neat, appropriate, organized,

and greatly enhances the final

product. Clearly shows how the

trait is passed on (karyotype or

pedigree is drawn). (6 pts)

Use and

citation of

reliable

sources

Use and/or citation of reliable

sources is not apparent. (0 pt)

Use of sources is evident and citations

are present, but are from unreliable

sources (www.ask.com). (1pt)

Use AND citation of reliable (e.g.,

www.genome.gov, class handout,

etc.) sources is apparent and

displayed in final product. (2pts)

Genome excerpts from chapter “Chromosome 22-Free Will” by Matt Ridley

“We now know that virtually all the evidence purporting to show how parental influences

shape our character is deeply flawed. There is indeed a correlation between abusing children

and having been abused as a child, but it can be entirely accounted for by the inherited

personality traits. The children of abusers inherit their persecutor’s characteristics. Properly

controlled for this effect, studies leave no room for nurture determinism at all. The step-

children of abusers, for instance, do not become abusers.

The same, remarkably, is true of virtually every standard social nostrum you have ever

heard. Criminals rear criminals. Divorcees rear divorcers. Problem parents rear problem

children. Obese parents rear obese children. Having subscribed to all of these assertions during

a long career of writing psychology textbooks, Judith Rich Harris suddenly began questioning

them a few years ago. What she discovered appalled her. Because virtually no studies had

controlled for heritability, there was no proof of causation at all in any study…Yet in each case,

from behavior genetics studies, there was new, strong evidence against what Rich Harris calls

‘the nurture assumption’. Studies of the divorce rates of twins, for example, reveal that genetics

accounts for about half of the variation in divorce rate, non-shared environmental factors for

another half and shared home environment for nothing at all. In other words, you are no more

likely to divorce if reared in a broken home than the average- unless your biological parents are

divorced. Studies of criminal records of adoptees in Denmark revealed a strong correlation with

the criminal record of the biological parent and a very small correlation with the criminal record

of the adopting parent- and even that vanished when controlled for peer-group effects, whereby

the adopting parents were found to live in more, or less, criminal neighborhoods according to

whether they themselves were criminal.

After twenty-five years of studies in behavioural genetics…Genes do influence

behaviour. Yet even after these discoveries, environment is still massively important-

probably in total more important than genes in nearly all behaviours. But a remarkably

small part in environmental influence is played by parental influence. Parents shape the home

environment and a happy home environment is a good thing in its own right. But children do

not seem to let the home environment influence their personality outside the home, nor to let it

influence their personality in later life as an adult. Culture is transmitted autonomously from

each children’s peer group to the next and not from parent to child…As every parent knows,

children prefer to imitate peers than parents.”

Things to include:

1. Describe a twin study.

2. Compare and contrast the ideas of nature vs. nurture.

3. What does the author suggest are the 2 biggest determiners of a child’s personality?

4. Based on the determiner’s of personality, how do you think your personality will change as

you get older? How can you change your personality now?

Pedigrees Practice In humans, albinism is a recessive trait. The disorder causes a lack of pigment in the skin and hair, making an

albino appear very pale with white hair and pale blue eyes. This disorder also occurs in animals, a common albino

found in a laboratory is the white rat. The pedigrees below trace the inheritence of the allele that causes albinism.

1. Given the following genotypes, describe the phenotypes

(normal or albino)

AA = ________________________________

Aa = ________________________________

aa = ________________________________

2. Fill out the blanks on the pedigree below.

3. How many children does this family have? _______

What are the sexes of the children? ________

7. Fill out the blanks of the pedigree below (AA, Aa, aa)

8. How many children does the original couple have? ____

9. How many grandchildren? ________

4. Fill out blanks on the pedigree below (AA, Aa, or aa)

5. How many children does the original couple have?

6. How many grandchildren does the original couple have?

What is the sex of the grandchild?

10. Rats can produce a lot more offspring than humans,

making a pedigree more difficult to manage. A researcher

has four female white rats named April, May, June, and July.

One night, the cage was left open in the lab and a brown rat

got into the female's cage. Six weeks later, the rats had litters

of babies of varying colors. Two of the offspring managed to

reproduce before the researcher was able to sort out the

mess. Determine genotypes of the rats in this pedigree.

Project objective: You will create genotypes and phenotypes of 2 creatures of your choosing. You will solve a

Punnett square to find the possible genotypes and phenotypes of their offspring.

Project Description: This project is equal to a test grade for Unit 3: Genetics. We have been working to

understand reproduction, heredity, and how genes and alleles play a part in what traits offspring have.

Now that you are experts in genetics, it is time to show what you know! You will be able to have fun and be

creative in this project by designing the genotype and phenotype of your own fictional creature.

First, you will choose 5 traits for your imaginary organism to have. For each, you must decide the genotype,

and phenotype.

For example:

Trait Phenotypes possible Genotypes

Nose color Pink (dominant) PP, Pp

Orange (recessive) pp

You will then draw or create a creature that has the characteristics you’ve chosen. If you circled the nose

color Pink, then you must draw a creature with a Pink nose phenotype.

Also, when you do your Punnett Square for this trait, you must make sure you use the correct genotype:

You must do the same thing for the second creature that yours will mate with:

You must have the genotype and phenotype decided for this second creature so that you can cross them in a

Punnett Square for EACH trait:

P P

Once you have done this for both creatures, each with 5 traits- you will have 5 Punnett squares with

offspring shown.

Now, choose on offspring location. It must be the same on all the Punnett squares. For example:

pp

P P

p

P

These are the traits you will use

to determine what offspring you

draw.

Hh

LL

Write-up questions

Answer the following questions with a paragraph each on a separate sheet. Make sure you address all

parts of each question:

1. Write out the phenotypes of all three of your creatures.

2. Answer this question for your first creature: does his/her offspring look like him/her? Why/why

not? (give your answer in terms of heterozygous/homozygous genotypes).

3. How are the traits of your creature #1 different from those of your creature #2 (the mate)?

4. Who does the offspring look like more? The mother? The father? Did you plan for it to come out

this way? Why or why not?

5. Did you do any selective breeding in your project? Why or why not? If you did, what were the

desirable traits you selected?

There are four parts to this project. Check off each one as you complete it:

Part Requirement

1

Tell us about the imaginary creature you are going to design:

□ What is its genotype for 5 traits?

□ What is its phenotype for these 5 traits?

□ Draw this creature’s chromosome with these 5 alleles on it.

2

□ Draw or create this creature for everyone to see its physical

traits

3

□ Explain what would happen if this creature mated with another

□ Describe and draw or create its offspring based on a Punnett

Square with another creature

4

Write-up:

□ Follow directions and answer questions based on your

designed creature

Grading Rubric Name ____________________

Part 0 Points 1 Point 2 Points 3 Points 4 Points 5 Points

Part

1

Student did not

complete this

part of the

project.

Student did not

show trait

choices.

Student did not

accurately

display trait

choices or did

not choose 5

traits.

Student chose 5

traits but did not

write the

genotype or

phenotype for

each.

Student chose 5

traits but did not

correctly write

the genotype

and phenotype

for each.

Student accurately

chose 5 traits and

wrote the genotype

and phenotype for

each.

Part

2

Student did not

complete this

part of the

project.

Student only

illustrated one

creature

Student only

illustrated

1 or 2 creatures

Student

illustrated

creature with

unidentified traits

Student

accurately

portrayed some

traits on drawing

Student accurately

portrayed genetic

characteristics on

drawing of all three

creatures (phenotype)

Part

3

Student did not

complete this

part of the

project.

Student only

completed a few

Punnett Squares,

which were

inaccurate

Student did not

complete

Punnett

Squares

accurately

Student

completed

Punnett squares

but did not

choose an

offspring from

them

Student

completed most

Punnett Squares

accurately

Student completed all

5 Punnett squares

accurately. Student

chose 1 offspring

from each Punnett

square and combined

the traits to create an

offspring.

Part

4

Student did not

complete this

part of the

project.

Student

answered

questions

incompletely

and/ or

incorrectly

Student

answered some

questions

correctly

Student answered

most or all

questions, but

most or all were

not correct

Student

answered most

questions

completely and

accurately

Student accurately

answered all

questions in

paragraphs and

complete sentences.

Comments:

Total/100:

Create your own Organism! Example-DO NOT COPY PART 1 Trait Phenotype Genotype Height Short H'H' Incomplete dominance Tall HH

Medium HH'

Hair Color Red RR, RO Multiple Alleles Blue BB, BO

White OO

Purple RB

Wings Winged (Dom.) WW, Ww Dom./Rec. No wings (Rec.) ww Pattern Stripes TT Co-dominance Spots PP

Stripes and Spots PT

Horns Horns (Dom.) NN, Nn Dom./Rec. No horns (Rec.) nn

Phenotype Genotype

Organism #1 Tall HH

Blue BO

Wings WW

Spots PP

Horns Nn

PART 2: Draw or create this creature for everyone to see its physical traits.

PART 3

Phenotype Genotype

Organism #2 Short H'H'

Purple BR

No wings ww

Stripes & Spots PT

Horns Nn

Punnett Squares:

H H

H' HH' HH' H' HH' HH'

B O B BB BO

R BR RO

W W w Ww Ww

w Ww Ww

P P

P PP PP

T PT PT

N n N NN Nn

n Nn nn

Describe and draw or create its offspring:

Phenotype Genotype

Offspring Medium HH'

Red RO

Winged Ww

Stripes & Spots PT

No horns nn

PART 4:Write-up answering the 5 questions.

THE FINAL FAMILY: Include a drawing to show the 3 members!

Phenotype Genotype

Organism #1 Tall HH

Blue BO

Wings WW

Spots PP

Horns Nn

Phenotype Genotype

Organism #2 Short H'H'

Purple BR

No wings ww

Stripes & Spots PT

Horns Nn

Phenotype Genotype

Offspring Medium HH'

Red RO

Winged Ww

Stripes & Spots PT

No horns nn

Diagnosing Patients (include

symptoms, summary of family history/risk factors and your

diagnosis for each patient) Meet Jacobe Patient ID #1

Jacobe’s Symptoms Jacobe suffers from chronic pain and anemia. His past doctors have told him he is

anemic (suffers from low oxygen supply) which makes him constantly feel tired and

weak. The symptoms increase when he becomes too active (like climbing stairs or

jogging) and can include dizziness, shortness of breath, headache, and chest pain.

Today, though, he is complaining of acute (sharp) pain in his joints, lungs, and

abdomen which he says has been ongoing for the past 24 hours.

Jacobe’s History Jacobe was born in Africa, where malaria is widespread. He has suffered from these

symptoms since he was about 4 months old. Over the last 5 years he has had several

onsets of these acute pain episodes. He has never been able to play hard at recess

or participate in sports. Jacobe has been hospitalized several times for the acute

pain attacks. He has had no other major medical illnesses.

Family History: Jacobe has 3 other normal brothers and no surviving sisters. (His youngest sister died

from Malaria when she was 1 year old). Neither his mother nor his father suffer from

the pain that Jacobe experiences; however, Jacobe’s grandmother on his mother’s

side and his grandfather on his father’s side suffer from these same symptoms.

Jacobe’s mom once became infected with malaria, but she quickly recovered

without any severe symptoms. His parents seem to have some semi-immunity to the

disease.

Jacobe’s Diagnosis After a genetic test, you confirm that Jacobe is homozygous recessive for sickle cell

disease. Both his mother and his father are carriers of the sickle cell allele. This

provides them with protection against the deadly malaria parasite without

experiencing Jacobe’s painful symptoms. Addtionally you find that Jacobe’s

difficulty breathing and fatigue are due to the inability of his red blood cells to carry

oxygen efficiently. This is potentially dangerous to his organs.

Jacobe’s Treatment As the doctor, you must develop 1-2 steps that Jacobe needs to take to start his

treatment. What would you suggest to Jacobe?

Meet Your Patient... Meet Kayla Patient ID #2

Kayla’s Symptoms About 8 days ago Kayla began to feel sick with a headache, nausea, vomiting,

fever, chills, and fatigue. She has also begun experience severe pain in her

abdomen and mild jaundice (yellowing color of the skin)

Kayla’s History Kayla recently returned from a trip to Africa. When asked by the nurse if she

recalled having bitten by any mosquitoes, Kayla said yes. At first, Kayla thought

she just had the flu, but her symptoms have been ongoing for over a week and

she is feeling weaker and weaker partly because of being dehydrated from all

the vomiting.

Family History: Kayla has no family history of malaria, and no one but herself has ever even been to tropical

Africa. Additionally, no one in her family has ever suffered from spleen or kidney problems

(which might explain the pain in her abdomen).

Kayla’s Diagnosis After performing some blood analyses, you discover Kayla’s blood is infected

with the parasite Plasmodium falciparum (a main cause of malaria). You

conclude that she is suffering from a very treatable form of malaria. She likely

contracted the disease when an Anopheles mosquito bit her and deposited

the parasite into her blood stream. Her jaundice is a symptom that the parasite

has infected her liver. Her weakness and fatigue is caused by anemia, which is

the result of the parasite rupturing her red blood cells. As a doctor, you are

very concerned about the pain in Kayla’s side because it could be a sign of a

rupturing spleen, which would require surgery.

Kayla’s Treatment As the doctor, you must develop 1-2 steps that Kayla needs to take to start her

treatment. What would you tell Kayla?

Meet Your Patient... Meet the Alex Patient ID #3

Alex’s Symptoms Alex is a 2 week old baby. His parents brought him in complaining of seizures,

albinism (excessively fair hair and skin), and a "musty odor" to the baby's sweat

and urine. They also believe he is not growing a maturing at a normal rate.

Alex’s History When Alex was first born, the doctors performed a blood-screening test for

various diseases and deficiencies, but nothing came up positive.

Family History: Both of Alex’s parents were counseled to undergo genetic screening to detect any possible

genetic disorders, which they did. The results showed that they were both carriers for the

autosomal recessive genetic mutation called PKU. PKU stands for phenylketonuria, which is a

defect where the body cannot produce the specific enzyme needed to break down the

amino acid phenylalanine. These amino acids can build up in the body and become toxic,

especially to the brain. PKU is one of only a few genetic diseases treatable by a modified

diet low in phenylalanine. This requires severely restricting or eliminating foods high in

phenylalanine, such as meat, chicken, fish, nuts, cheese, legumes and other dairy products.

Infants may still be breastfed to provide all of the benefits of breast milk, though the quantity

must be monitored and supplementation will be required. Many diet foods and diet soft

drinks that contain the sweetener aspartame must also be avoided, as aspartame consists of

two amino acids: phenylalanine and aspartic acid.

Alex’s Diagnosis You performed a genetic test on Alex and determined that he has the same

PKU mutation on chromosome #12 that his parents both have. You also

confirmed the presence of high amounts of phenylalanine amino acid in Alex’s

urine. These two combined results indicate to you that the baby has PKU.

Alex’s Treatment As the doctor, you must develop 1-2 steps that Alex needs to take to start his

treatment in order to live a fairly normal life. What would you tell Alex’s

parents?

Meet Your Patient... Meet Chris Patient ID # 4

Chris’ Symptoms Chris has been complaining of chest pain. In addition, he has had trouble

breathing and shortness of breath. When he breathes the nurse noticed

that he is wheezing. Last night he coughed up blood.

Chris’ History Chris is a talented basketball player. He works 6 days a week and runs

between 2 and 5 miles a day. As a child, he never had trouble breathing

during a run. Recently, however, he has trouble finishing his runs. He is

always short of breath and is, at times, very painful. Chris eats a healthy

balanced diet. Chris has been smoking for 7 years. He now smokes

between 6 and 10 cigarettes a day.

Family History:

Chris has no family history of lung cancer. His maternal grandmother died

of breast cancer, but his maternal grandfather is still in excellent health.

Neither of his father’s parents have any type of cancer. Furthermore, his

parents have never been diagnosed with cancer and neither have his

two brothers.

Chris’ Diagnosis After a number of tests your original diagnosis was confirmed. Chris has a

cancerous tumor in his lungs. The growth of the tumor has invaded the

lung tissues and surrounding areas which is interfering with his breathing.

Chris’ Treatment As the doctor, you must develop 1-2 steps that Chris needs to take to start

his treatment. What would you tell Chris?

Meet Your Patient... Meet Rihanna Patient ID # 5

Rihanna’s Symptoms Rihanna first noticed a growth on the back of her neck. At first she just thought

it was a pimple. It didn’t hurt so she ignored it. After a few weeks it did not heal

and she became a little worried. She ignored it for another week and then

realized that it began to bleed, then scab, and then bleed again. Finally, her

mother looked at the sore and noticed that there was a new freckle that had

never been there before.

Rihanna’s History Rihanna is 23 years old. She tries to eat very healthy. She follows a strict diet

and drinks 8 cups of water a day. Rihanna does not smoke nor does she drink.

Rihanna is tennis player. She has been playing tennis outside since the age of

6. Over the past 17 years, she has been severely burnt a number of times. The

areas of her body that have been burnt that worst are her arms, her face and

the back of her neck.

Family History: Rihanna has light skin. Her mother’s skin is extremely light, while her father has a

medium toned skin. Her mother was a model and spent many days

sunbathing. At the age of 55, Rihanna’s mother was diagnosed with skin

cancer on her nose. No one else in Rihanna’s family has ever had skin cancer.

In fact, no one else in Rihanna’s family has ever had any type of cancer.

Rihanna’s Diagnosis After a skin biopsy (a special test) of the affected area, you confirm that

Rihanna has skin cancer on her neck. Cancer can occur on almost area of the

skin, but is most common on areas often exposed to the sun.

Rihanna’s Treatment As the doctor, you must develop 1-2 steps that Rihanna needs to take to start

her treatment. What would you tell Rihanna?

Meet Your Patient... Meet LeBron Patient ID # 6

LeBron’s Symptoms LeBron first noticed a couple of weeks ago that he was becoming very thirsty

all the time. In addition, he started sleeping more and more. His sudden loss of

weight was alarming because at the same time he was also a lot hungrier.

After a couple of weeks, he began getting sick and couldn’t see very well.

LeBron’s History LeBron is a very healthy young man. He has been in shape is whole life. He is

6’8” tall and weighs about 250 lbs. He is extremely athletic. He runs, swims,

bikes and plays basketball. In fact, he has never been in poor health. In

addition, he never eats foods that are high in fat or high in sugar.

Family History: LeBron’s father was diagnosed with type 1 diabetes when he was 26. Not only

does his father have type 1 diabetes, so do both his uncle and aunt. His

grandfather and great uncle also had type 1 diabetes.

LeBron’s Diagnosis Following a urine analysis, you noticed that his urine has a very high level of

glucose in it. With these results, you immediately test him for insulin. His insulin

levels are very low. You realize that LeBron was sleepy because his body could

not break down the glucose (sugar) and convert it into usable energy (ATP).

Due to his family history and his healthy diet, you diagnose him with type 1

diabetes.

LeBron’s Treatment As the doctor, you must develop 1-2 steps that LeBron needs to take to start his

treatment. What would you tell LeBron? Remember that LeBron cannot make his

own insulin. This insulin is necessary to break down sugars after he eats. Also,

consider what types of food he should cut back in his diet.

Meet Your Patient...

Meet Medea Patient ID # 7

Medea’s Symptoms Starting in her late twenties, Medea started noticing that she was increasingly more and

more tired. Even though she got a lot of sleep each night and she took frequent naps, she

was always tired. In addition, she was urinating more often. She realized, too, that this was

making her thirstier. Unfortunately, her appetite increased as well. It seemed like she could

never get full, no matter how much she ate.

Medea’s History Medea does not work out on a regular basis. In fact, even when she does, she becomes

very tired and easily out of breath. In addition, she admits that she does not eat before she

works out and does not drink any water during physical activity. Medea loves pasta, bread

and cereal. She loves any carbohydrate and anything with sugar in it. Her favorite food is

cake. She does not monitor the amount of carbohydrates she eats on a daily basis. Medea

is obese, weighing significantly more than she should at her height.

Family History:

Medea’s father is not obese and neither is her mother. However, both of them are slightly

overweight (a result of poor exercise). They both eat diets low in sugars and starches. Her

twin sister is not extremely thin, but she is not overweight. Her twin sister works out every day

and does not have any health problems. Her brother shares her love of food and does not

work out very often. He has been suffering from symptoms similar to Medea’s

Medea’s Diagnosis After a few blood tests, you realize that Medea’s insulin level is extremely high. This indicates

that her body is “insulin-resistant.” Even though she is making insulin, it is not breaking down

her sugar. This explains why she was tired (her sugar is not converted into usable energy).

You decide that she has type 2 diabetes.

Medea’s Treatment As the doctor, you must develop 1-2 steps that Medea needs to take to start her treatment.

What would you tell Medea? You know that insulin is not working to break down the sugar

so prescribing insulin will not be effective.