Disease Diagnosis Using Radioactive Labeling of Chromosomes

Teacher: Josh Dyniewski; Blalack Middle School; Carrollton, Texas

Research Host: Roger A. Schultz, Ph.D.; University of Texas Southwestern Medical Center,
Dallas, Texas

Suggestions for Teachers

Purpose
The purpose of this activity is to make the students aware of methods that are used to study
human chromosomes and their abnormalities associated with human disease. Chromosomes play
an integral role in the development of human life. However, due to their size, scientific
investigation is restricted to using a special procedure called radioactive labeling. The students
will become familiar with this process and how to interpret its results, ultimately diagnosing the
patient’s deviation from normal human development.

Objectives
By the end of this activity the student will be able to:
1) understand that chromosomal abnormalities alter normal human development.
2) understand the goals of radioactive labeling.
3) identify abnormalities within a set of human chromosomes.

Materials
For each lab station
 a brown paper bag with 20 popsicle sticks inside
 a roll of florescent tape (each group needs a different color)
 an index card
 a spreadsheet of human diseases and their corresponding chromosome defect
 protective latex lab gloves

For the entire class

 black light
 set of encyclopedias

Preparation and Procedure

Pre-Lab Discussion
1) This activity should follow lessons that cover mitosis, meiosis, and mutations. The students
need to have mastered the concept of chromosomes, what their role is in humans, and what
can go wrong with them.
2) The students will need an overview of radioactive labeling. They should be familiar with
terms like primer, radioactive labeling, fluorescent microscope, etc. 2 2
Pre-Lab Preparation

1) The students will be divided into 7 lab groups. (Lab groups will vary with class and group
size.)
2) Each lab station will need a brown bag (nucleus) with 20 popsicles (chromosomes) inside.
3) Accompanying the bag and popsicles at each station will be an index card. This card will
explain the objective of the labeling procedure that has been carried out on the chromosomes.
An example might read, “Radioactive labeling was carried out on this cell. Scientists have
chosen a label that will test for the presence of chromosome 21.”
4) The diseases that have been suggested to test for are as follows:

Diseases Chromosomal Abnormality

Down Syndrome Trisomy 21
Turner Syndrome Missing X chromosome; XO
Metafemales Extra X chromosome; XXX
Klinefelter’s Syndrome XXY
Chronic Myeloid Leukemia Translocation of chromosomes 22 and 9
Hemophilia X linked disease (only passed on X chromo.)
Normal Human No Chromosome Abnormality

5) You will need to set up a lab station in the following manner. Example—Downs Syndrome:
Using a fluorescent color, place tape on three of the popsicle sticks. Place the “labeled”
sticks in the paper bag and close it up. Prepare an index card that discusses what labels were
used on the chromosomes.
6) Included at the lab station will be a chart of many human diseases and the chromosomal
abnormality associated with each. Once they have identified the abnormality, each group
must identify the corresponding disease using the chart.
7) The rest of the lab stations will need to be prepared in this same manner, using a different
color of tape for each disease. Note: The number of diseases may be increased or decreased
as class size dictates.
8) Black lights will need to be set up around the room and turned on at the start of the lab. All
other lights should be turned off. As the students pour out their chromosomes to examine the
defects, the black lights will cause the tape labels to glow, simulating fluorescent radioactive
labeling in the laboratory.
Safety
Watch that students do not treat the black lights inappropriately.

Questions to Ask
1) What are the advantages of identifying chromosome abnormalities by means of fluorescent
labeling?
2) When could knowing this information be a disadvantage to the patient?
3) Who should be allowed to view this type of personal information?
4) What factors could effect the accuracy of fluorescent labeling?

Suggestions for Assessment

Each lab group is assigned one of the diseases. They must research the disease and construct a
Power Point presentation that they will give to the class. Their presentation will cover
identifying the disease at the chromosome level and will run through topics such as physical and
mental features, survival rates, cures, etc. Each group could take a digital picture of the labeled
chromosomes to insert into the presentation.

Where to Go From Here

This activity will follow lessons on mitosis and meiosis. It could lead into lessons on adaptation
and natural selection. How do animals adapt to these differences? Guest speakers could include
a doctor or cellular scientist that have used these methods. Alternatively a field trip could be
scheduled to a lab where these methods have been put into use for research purposes.

References and Resources

Black lights can often be acquired via the art or theatre departments at your school. Otherwise
Wal-Mart or other department stores generally carry them.

Up to date Information on diseases can be found on the World Wide Web. One particular site
that has been useful is: http://www3.ncbi.nlm.nih.gov/Omim/

TEKS Correlation
Science, Grade 8

(8.2) Scientific processes. The student uses scientific inquiry methods during field and laboratory
investigations. The student is expected to:

(A) plan and implement investigative procedures including asking questions, formulating
testable hypotheses, and selecting and using equipment and technology;
 (B) collect data by observing and measuring;
(C) organize, analyze, evaluate, make inferences, and predict trends from direct and
indirect evidence;
(D) communicate valid conclusions; and
(E) construct graphs, tables, maps, and charts using tools including computers to
organize, examine, and evaluate data.

(8.5) Scientific processes. The student knows that relationships exist between science and
technology. The student is expected to:
(A) identify a design problem and propose a solution;
(B) design and test a model to solve the problem; and
(C) evaluate the model and make recommendations for improving the model.

(8.11) Science concepts. The student knows that traits of species can change through generations
and that the instructions for traits are contained in the genetic material of the organisms.
The student is expected to:
(A) identify that change in environmental conditions can affect the survival of individuals
and of species;
(B) distinguish between inherited traits and other characteristics that result from
interactions with the environment; and
(C) make predictions about possible outcomes of various genetic combinations of
inherited characteristics.
 Disease Diagnosis Using Radioactive Labeling of Chromosomes

Student Activity

Overview
In this activity you will examine chromosomes for abnormalities in number and structure. Your
findings will allow you to make a disease diagnosis for each patient. You will do further
research on the disease of one of your patients, and bring a full report before your peers.

Objectives
At the completion of this activity you should be able to
1) understand that chromosomal abnormalities alter normal human development.
2) understand the goals of radioactive labeling.
3) identify abnormalities within a set of human chromosomes.

Background
Chromosomes contain all the information critical for human development. However, sometimes
errors occur at the chromosome level that severely alter development pathways. Scientists are
now able to identify these errors, or abnormalities using a process called radioactive labeling.
Scientists use a radioactive label that will bind to a specific segment of DNA on a specific
chromosome. Once the label has attached itself, scientists can use a fluorescent microscope to
look at the chromosome. The location in which the label has attached itself will appear a bright
fluorescent color, while all other chromosomes remain the same color. Using this procedure,
scientists can test to see if chromosomes are present or missing in the cell, or if the chromosomes
have crossed over, creating new gene sequences.

Materials
Each group will need the following materials to make accurate patient diagnosis:
 a pair of protective gloves for each member
 a nucleus of chromosomes from each patient
 an indication of what each set of patient chromosomes has been labeled for
 a fluorescent microscope filter
 a chart of known diseases and their corresponding chromosomal abnormalities

Procedure
1) Each group will start at a separate patient lab station positioned around the room. Be sure to
put on your protective gloves before approaching a patient sample.
2) When you have reached the patient sample, carefully read the test card. This card will
inform you of the labeling tests that have been performed on this patient’s cells.
3) Once you have read the test information, open the cell nucleus and pour out the
chromosomes.
4) Observe any indication of radioactive labels present. Record what you see in the data table.
Be specific, you never want to confuse two patients when you diagnose diseases.
5) Record your interpretation of the abnormality in the appropriate column.
6) Using the disease chart that has been provided, give your expert diagnosis of what disease
this patient has. Be careful in your diagnosis. Use all the available information and
observation. It is very poor practice to make an incorrect diagnosis of a patient’s ailment.
Your medical license can be revoked for such a violation.
7) When you have filled in the chart completely for your current station, collect the
chromosomes back into the nucleus and reseal the nuclear membrane.
8) Wait until you are instructed to move to your next appointment.

Data
Chromosome abnormalities in radioactively labeled patients
Patient Number Label Observations Analysis Disease Diagnosis
***Accuracy is critical whenever you are dealing with the diagnosis of human life. Be sure to
collaborate with the other doctors in your group before you make a final disease prognosis.

Analysis Questions

1. In your own words, what is a radioactive label?

2. Why are the results of chromosome labeling tests so important to doctors when they need to
diagnose a patient?

3. When would it be a disadvantage for a person to have one of these tests performed? (HINT:
The information obtained from these tests concerning patient abnormalities cannot be kept
confidential from insurance agencies.)

4. What errors are possible in radioactive labeling that would make the findings useless?

Going Further
Each group of doctors will be assigned to a different patient. You will be responsible for
constructing a full report on the patient’s health. You will first need to research the disease that
your patient has. Then the group will construct a Power Point presentation and present their
findings to the class. Included in the Power Point presentation will be a digital picture of the
patients radioactive labeling test results, a general discussion of the disease, its symptoms,
physical and mental features, available cures, survival rates, etc.