Karyotypes to Predict Genetic Disorders

A Lesson on Genetics

Karen Walton
Chapin High School
Chapin, South Carolina
Summer 2008
Research Host:
Dr. Gregory Brower
University of South Carolina
School of Medicine
Lesson #11

The American Physiological Society

2009 Works in Progress
2009 The American Physiological Society, Bethesda, MD

Permission granted for workshop/classroom use with appropriate citation.

Appropriate citation:
Walton, K. Karyotypes to Predict Genetic Disorders: A Lesson on Genetics (APS Archive
of Teaching Resources Item #3041). [Online]. Bethesda, MD: American Physiological
Society, 2008. http://www.apsarchive.org/resource.cfm?submissionID=3041.

Editors notes:
Website URLs listed in this resource were current as of publication, but may now be
obsolete. If you know of a replacement URL, please suggest it in the resources
Comments section http://www.apsarchive.org/resource.cfm?submissionID=3041.
The APS encourages teachers to give students a copy of the ABC (Appropriate,
Beneficial, Caring) rules for use of animals in the classroom, to discuss the rules, and
to ask students to sign the ABC rules contract (see References). Also, teachers
should have a plan for short term care of the animals (with supporting references for
appropriate care guidelines) and for disposal or long-term care of all classroom
organisms.
Teachers should carefully review any stimulus or environmental change for an animal
being used in experiments or observations before students are allowed to use that
stimulus. This is especially important if the stimulus could cause pain or distress to
the organism. Teachers may be able to identify a less stressful stimulus for the
students to use in their experiment.
Although mammals provide excellent opportunities for observational studies, they
require particular care in terms of handling and may cause allergic reactions in some
students. The teacher should check local and state guidelines before using mammals
in the classroom.

Disclaimer:
This activity was created by the author and reviewed by the American Physiological
Society. Any interpretations, statements, or conclusions in this publication are those
of the author and do not necessarily represent the views of either the American
Physiological Society or the funding agencies supporting the professional development
program in which the author participated.

Frontiers in Physiology
www.frontiersinphys.org

The American Physiological Society

Permission is granted for workshop/classroom use with appropriate citation

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics

Teacher Section

PURPOSE

The purpose of this activity is to explain how a human karyotype is used to

identify specific genetic disorders. During this lab students will research new
treatments, the inheritance, diagnosis, and their application to biology, and
symptoms or complications of a specific genetic disorder. Also, students will
hypothesize what will happen to the frequencies of two alleles as a result of
the presence of malaria in a population.

OBJECTIVES

Upon completion of this activity, students will be able to:

identify chromosome pairs based upon band patterns and location of
centromere.
order chromosome pairs based upon size, and differentiate normal
karyotypes from abnormal karyotypes.
observe how selective forces can change allele frequencies in a population
and cause evolution to occur.
write a paper from the perspective of having the specific genetic disorder
they researched explaining:
1. how they look physically;
2. how they feel;
3. what treatments they endure; and
4. life expectancy and quality of life.

GRADE LEVEL

This activity is designed for grades 9-12 biology courses.

PRIOR
KNOWLEDGE

This activity should follow an introduction to human heredity, including

mastery of using a pedigree and a brief comparison between sex
chromosomes and autosomes.

TIME REQUIRED Two 90-minute periods.

INCLUDING
ALL
STUDENTS

Students will work in groups of three. Students with visual impairments or

other physical challenges will be grouped with students who can read
directions, work the mouse and keyboard, and provide oral explanations of
any visual cues in the lesson activities if necessary.

QUESTIONS
TO ASK
ALONG THE
WAY

NATIONAL
SCIENCE
EDUCATION
STANDARDS

Grades 9-12
Science as Inquiry
Abilities necessary to do scientific inquiry
Understanding about scientific inquiry
Life Science
Molecular basis of heredity
Science and Technology
Abilities of technological design
History and Nature of Science
Science as a human endeavor

What is a karyotype?
How can karyotypes be used to study human chromosomes?
What is the difference a between male and female karyotype?
What is a sickle cell trait?
What are some genetic disorders that can be identified using a karyotype?

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics

Teacher Section

SOUTH
CAROLINA
STATE
SCIENCE
EDUCATION
STANDARDS

B-1:
Inquiry Standards
B-4.6: Predict inherited traits by using the principles of Mendelian genetics.

MATERIALS

Students will be working in groups of three:

Class set of laptop computers or computer lab
Interpreting Karyotypes worksheet
Internet Treasure Hunt Worksheets
K-W-L worksheet
75 red beans, 25 white beans, 5 containers (e.g., paper cups) per group

SAFETY

Students should handle computers with care.

Students should have signed the schools Appropriate Use of Technology
form beforehand.

PREPARATION
AND
PROCEDURE

I. Engage
A. Teacher will introduce the lesson by discussing how karyotypes are
used to identify genetic disorders.
B. Students will manipulate a karyotype using an Internet website:
Genetic Science Learning Center at the University of Utah,
http://learn.genetics.utah.edu/content/begin/traits/karyotype/. Click on
Heredity & Traits, and select Make a Karyotype. Students can
manipulate the karyotype or print a hard copy to cut out and paste
correctly. Walk around and make sure each student is navigating
correctly. (See Reference and Resource item #4).
C. Click on the back button, select Using Karyotypes to Predict Genetic
Disorders:
http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/ and
click on the play button for each topic to read and learn. Students
must click forward to complete each topic then complete the quiz
that follows. Have students raise hands before leaving this site for
teacher to assess quiz for understanding and completion of activity.
D. Students will play the role of a cytogenetic technician and complete
three patient karyotypes, then evaluate and diagnose each patient.
Students will answer questions to interpret the three karyotypes
evaluated. For classroom use if a computer is not available, you can
also download a printable student worksheet.
II. Explore
Teacher Tips: Explain to students that not all genetic mutations are
visible on a karyotype; some are tiny differences in the DNA that can
have tremendous impact on health and development.

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
PREPARATION
AND
PROCEDURE

Teacher Section

The students will research facts about sickle cell anemia and malaria by
completing an Internet Treasure Hunt worksheet that answers the
following questions:
A. What is sickle cell disease?
B. What is the relationship between malaria and sickle cell disease?
C. Students within their groups will, read background information
about Allele Frequencies and Sickle Cell Anemia. Hypothesize what
will happen to the allele frequencies of the A and S alleles as a result
of the presence of malaria? Will the frequency of A increase or
decrease? What about S? Formulate a hypothesis and corresponding
prediction. (See Reference and Resource items #2 and #3).
Teacher Tips: Read the background information and discuss with
students. Some of the information may need further explanations. I had
students read in small groups and I had a mini-lecture to help clarify
the background information. See student section for the Allele
Frequencies and Sickle Cell Anemia Lab from the Genetics Education
Partnership: http://genetics-educationpartnership.mbt.washington.edu/class/activities/HS/sickle-back.htm.
The activity allows students to observe how selective forces can change
allele frequencies in a population and cause evolution to occur.
III. Extend
Students within their groups will research a genetic disorder from the
following suggested list: Downs Syndrome, Klinefelter Syndrome,
Turners Syndrome, Cri de Chat Syndrome, Fragile X Syndrome, Jacob
Syndrome, Trisomy 13, and Trisomy 18. Write a paper from the
perspective of having that genetic disorder to include:
name of the disorder
symptoms of disorder, diagnostic testing, and life expectancy
genetic counseling to include a karyotype
treatment and current research (what biotechnological applications
are currently being used in the fight against this disease?)
Teacher Tips: The suggested disorders can be identified by the use of
a karyotype. Have students select two sites to research and evaluate
along with teacher approval (see student section for Genetic Disorder
Internet Treasure Hunt).

WHERE TO GO
FROM HERE

This lesson can lead directly to research about why the frequency of the
sickle cell allele is so much lower in the United States than Africa. Also, what
impact will the malaria vaccine in the long run have on the frequency of
sickle cell anemia in Africa?

SUGGESTIONS
FOR
ASSESSMENT

Students completion of Interpreting a Karyotype worksheet.

Student presentation of hypothesis about what will happen to the
frequencies of the A and S alleles as a result of the presence of malaria and
completed analysis worksheets.
Student paper about the specific genetic disorder.

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
REFERENCES
AND
RESOURCES

Teacher Section

1. The Biology Project

http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html

Online interactive resource for learning biology developed at The

University of Arizona. Accessed on January 1, 2009.
2. Brigham Womens Hospital
http://sickle.bwh.harvard.edu/menu_sickle.html
This website is a teaching affiliate of Harvard Medical School
Accessed on January 2, 2009.
3. Genetics Education Partnership

http://genetics-educationpartnership.mbt.washington.edu/class/activities/HS/sickle-back.htm

The Genetics Education Partnership (GEP) is a learning community of

kindergarten through 12th grade teachers, scientists, and genetics
professionals. Accessed on January 2, 2009.
4. Learn. Genetics Genetic Science Learning Center

http://learn.genetics.utah.edu/units/disorders/karyotype/karyotypeinfo.cfm

Website provides online activities, labs, experiments, and workshops for

students, and teachers. Accessed on January 2, 2009.
5. MayoClinic.Com
http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324
Great websites provides medical and health information. Accessed on
January 2, 2009.
6. RubiStar
http://rubistar.4teachers.org
Website serves as a free tool to help teachers create quality rubrics.
Accessed on January 2, 2009.
7. University of Maryland Medical Center
http://www.umm.edu/blood/sickle.htm
Website provides health and medical information. Accessed on January 2,
2009.
8. World Health Organization
http://www.who.int/mediacentre/factsheets/fs094/en/
Website monitors disease outbreaks, assesses the performance of health
systems around the globe. Accessed on January 2, 2009.

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
Internet Treasure Hunt

Student Section

Name: ______________________ Date: _______

This web info search will help you find information about sickle cell anemia. You will be
looking at pre-selected web sites to answer each question. It is important to not only find
the information at the site, but also to consider who wrote the site, what their purpose is
in writing it, and how credible (accurate) you think the information is.
Question 1:

What is sickle cell disease?

Site 1
MayoClinic.com
Tools for healthier living
www.mayoclinic.com/health/sicklecell-anemia/DS00324

Site 2
University of Maryland
Medical Center Blood Diseases

www.umm.edu/blood/sickle.htm

Who created this

web site
(organization, etc.)?
Why did they
create it? (check all
that apply)
How credible
(accurate) do you
think the info is?

To provide factual information

To influence the readers opinion
To sell a product or service
Im not sure
Very accurate
Somewhat accurate
Not very accurate
Im not sure

To provide factual information

To influence the readers opinion
To sell a product or service
Im not sure
Very accurate
Somewhat accurate
Not very accurate
Im not sure

What did
you learn?

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
Internet Treasure Hunt

Student Section

Name: ______________________ Date: _______

This web info search will help you find information about malaria. You will be looking at
pre-selected web sites to answer each question. It is important to not only find the
information at the site, but also to consider who wrote the site, what their purpose is in
writing it, and how credible (accurate) you think the information is.
Question 1:

What is the relationship between malaria and sickle cell disease?

Site 1
World Health Organization
www.who.int/mediacentre/factsheets
/fs094/en/

Site 2
Brigham and Womens Hospital
http://sickle.bwh.harvard.edu/menu
_sickle.html

Who created this

web site
(organization, etc.)?
Why did they
create it? (check all
that apply)
How credible
(accurate) do you
think the info is?

To provide factual information

To influence the readers opinion
To sell a product or service
Im not sure
Very accurate
Somewhat accurate
Not very accurate
Im not sure

To provide factual information

To influence the readers opinion
To sell a product or service
Im not sure
Very accurate
Somewhat accurate
Not very accurate
Im not sure

What did
you learn?

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
Karyotyping Activity

Student Section

Name: ______________________ Date: _______

Use the University of Arizonas The Biology Project website at:

http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping2.html
to answer the questions below:
Diagnosis
Normal # of chromosomes
Klinefelter's Syndrome
Down's Syndrome
Trisomy 13 Syndrome

Chromosomal Abnormality
patient's problems are due to something other than an
abnormal number of chromosomes.
one or more extra sex chromosomes (i.e., XXY)
Trisomy 21, extra chromosome 21
extra chromosome 13

A1. What notation would you use to characterize Patient As karyotype?

A2. What diagnosis would you give patient A?

B1. What notation would you use to characterize Patient B's karyotype?
B2. What diagnosis would you give patient B?

C1. What notation would you use to characterize Patient C's karyotype?
C2. What diagnosis would you give patient C?

Allele Frequencies and Sickle Cell Anemia Lab

Student Instructions: Visit the following website to an activity that will allow you to
observe how selective forces can change allele frequencies in a population and cause
evolution to occur.
http://genetics-education-partnership.mbt.washington.edu/class/activities/HS/sickle-bean.htm

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
Internet Treasure Hunt
and Genetic Disorder Paper

Student Section

Name: ______________________ Date: _______

Identify and select two websites to answer questions about the genetic disorder you are
researching. Your teacher must approve those websites before you do further research.
Write a paper from the perspective of having that genetic disorder to include:
name of the disorder
symptoms of disorder, diagnostic testing, and life expectancy
genetic counseling to include a karyotype treatment and current research (what
biotechnological applications are currently being used in the fight against this disease?)
It is important to not only find the information at the site, but also to consider who wrote the site,
what their purpose is in writing it, and how credible (accurate) you think the information is.
Circle the genetic disorder you are researching: Downs Syndrome, Klinefelter Syndrome,
Turners Syndrome, Cri de Chat Syndrome, Fragile X Syndrome, Jacob Syndrome, Trisomy 13,
and Trisomy 18.
Site 1
Site 2

Who created this

web site
(organization, etc.)?
Why did they
create it? (check all
that apply)
How credible
(accurate) do you
think the info is?

To provide factual information

To influence the readers opinion
To sell a product or service
Im not sure
Very accurate
Somewhat accurate
Not very accurate
Im not sure

To provide factual information

To influence the readers opinion
To sell a product or service
Im not sure
Very accurate
Somewhat accurate
Not very accurate
Im not sure

What did
you learn?

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

Karyotypes to Predict Genetic Disorders

A Lesson on Genetics
Genetic Disorder Research Paper Rubric

CATEGORY

Mechanics/
Grammar

Organization

Content

Sources

10

Student Section

Name: _________________
Date: ______________ Period: _______

No misspelled
words or
grammatical
errors.
Punctuation is
correct.

Two or fewer
misspelled
words and/or
grammatical
errors.

Three or
fewer
misspelled
words and/or
grammatical
errors.

Four or
fewer
misspelled
words
and/or
grammatical
errors.

More than five

misspelled words
and/or
grammatical
errors or some
or all
information is
not original.

Paper is very well

organized with
logical
paragraphs that
connect to each
other and
accurately cover
the topic.

Paper is
organized
with logical
paragraphs,
however, the
connections
between the
paragraphs is
lacking.
Topic
covered
thoroughly.

Paper
organized with
logical
paragraphs,
however, the
connections
between the
paragraphs is
lacking. Some
information is
missing.

Paper is
disorganized
and
connections
between the
paragraphs
is lacking.
Not all of
the topic is
covered.

There were no
clear or logical
organizational
structure-just
random facts or
some or all
information is
not original.

Accurate
information, well
written students
own words. More
than just the
required
information is
presented, extra
research is
evident.

Accurate
information,
well written
in students
own words.
All required
information
is presented.

Accurate
information,
written in
students own
words. Missing
1-2 pieces of
required
information.

Information
is not
completely
accurate
well written
in students
own words.
Missing 3 or
more pieces
of required
information.

Some or all
information is
not original and
obviously cut
and pasted or
copied directly
from another
source. Required
information
missing.

Two or more
sources are listed
on a separate
page titled
Sources.

Karen Walton
Chapin, SC
2009 The American Physiological Society, Bethesda, MD

Less than two

sources are
listed on a
separate page
titled
Sources.

Source page is
absent.

2008 Frontiers in Physiology Research Teacher

APS Works in Progress
Permission granted for workshop/classroom use with appropriate citation.

This page intentionally left blank.

The American Physiological Society

2009 Works in Progress
2009 The American Physiological Society, Bethesda, MD

Permission granted for workshop/classroom use with appropriate citation.

This page intentionally left blank.

The American Physiological Society

2009 Works in Progress
2009 The American Physiological Society, Bethesda, MD

Permission granted for workshop/classroom use with appropriate citation.