Genetics:

Pre-Lab Vocabulary and Questions

Must understand monohybrid cross, genotype, phenotype, alleles.

Homework #1: GOTO www.ygyh.org , and answer the following

1. What causes sickle-cell disease?

It is caused by a mutation in a blood protein caused beta globin. It leads to change in shape and behavior of red blood cells.
2. What is the frequency of the disease in Americans?
It is the most common single gene disorder in African Americans, affecting one in every 375. A quarter of a million children are
born with the disease.
3. What causes the RBC’s to change shape?
A mutation in the genes can cause a change in the protein, valine.
4. What causes the symptoms of sickle-cell disease?
Blocked blood vessels causes pain and lead to spleen, lung, heart damage, stroke. It also leads to fatigue caused by anemia.
5. How is it treated?
It is treated by a bone marrow transplant. Also, hydroxyurea helps to prevents or lessen sickle cell’s complications. Blood
transfusions and narcotics for pain help as well.
6. What causes malaria and how is it contracted?
Malaria is contracted by mosquitoes and is caused by a parasite.
7. What are the symptoms of malaria and how is it treated?
Symptoms include flu like illnesses with fever, chills, muscle aches, headache, nausea, vomiting, cough, and diarrhea. It is
treated with drugs or oral medication.
8. What is the relationship between sickle-cell disease and malaria?
Those that have sickle cell disease can’t get malaria because malaria feeds off the hemoglobin. The sickle cell disease doesn’t
have the hemoglobin that the malaria needs so malaria can’t affect them. Also, when malaria is about to affect a sickle cell, the
sickle cell breaks down and the malaria cannot live.

The Simulation

Simulation for persistence of HbS allele in a population in a malaria-infested region of an under-developed country of Africa.

1. There are two alleles coding for the beta-chain of hemoglobin, the normal allele and one coding for the sickle cell variant.
Draw a Punnett square showing a cross between a normal individual and a carrier of the sickle-cell allele, between two
carriers of the sickle-cell allele.

In this under-developed country where there is no treatment for sickle-cell disease, what would happen to the individuals
homozygous for HbS?

2. Collect simulated gametes and population cups. Working in groups of 4, assign one person to be the recorder and a second
to be the parasite-infested mosquito with a coin.
3. Label the cups ”gene pool”, “malarial survivors” and “non-survivors”.
4. Your initial gene pool should have 75 HbB alleles or red beans and 25 HbS alleles or speckled beans.

Determine the gene frequency in this population:

First Generation
% HbB allele = _____________

% HbS allele = _______________

5. Each member of your group will simulate fertilization and the creation of the next generation by picking out two beans
WITHOUT LOOKING.

At this point a mosquito shows up and dines on all four offspring. By flipping the coin, determine if this mosquito is infected with the
malaria plasmodium or not. If it does not carry the plasmodium, all individuals will survive. If it is infected, use the genotype of the
individuals to determine if they survive. If they did not survive, place all their alleles in the “non-survivor” cup.
Even if an HbS/HbS individual survives malaria, what is NOT likely to occur?
Place ONLY the alleles of survivors AND breeders in the “survivors” cup.
Continue until all the alleles have been used.
 Determine the gene frequency in this population:
Second Generation
Total # of surviving alleles__________

# of HbB alleles __________, % HbB allele = _____________

# of HbS alleles __________, % HbS allele = _____________

6. Repeat the simulation in order to create a third generation.

Determine the gene frequency in this population:

Third Generation
Total # of surviving alleles__________

# of HbB alleles __________, % HbB allele = _____________

# of HbS alleles __________, % HbS allele = _____________

7. Add your raw

First generation Second generation Third generation data to the
class data
HbB HbS HbB HbS HbB HbS
sheet.
Class total
Allele Frequency

Analysis Questions:

Modern Genetics Extension:

Linus Pauling and H. Itano showed that the hemoglobin from red blood cells of individuals suffering from sickle-cell anemia was
different from normal adult hemoglobin. Later Ingram discovered that the difference was in a single amino acid of the 141 amino acids
of the beta chain of hemoglobin A.

1. Determine the change that occurred in the gene sequence to produce this effect.

NH2-val-his-leu-pro-val-glu-lys-ser-ala ….. HbS

NH2-val-his-leu-pro-glu-glu-lys-ser-ala…… HbB

2. GOTO www.bioservers.org/ to see if you were correct.

a. ENTER Sequence Server
b. Use the pull-down menu in MANAGE GROUPS to enter the PUBLIC sequence sources. BE PATIENT and allow the CLASSES
sequence sources to load before you go to the PUBLIC sequence sources. If you try to rush it, it becomes confused.
c. Scroll down to the HBB and sickle cell anemia choice and click onto the box at the left. Click OK. This will load a number of choices
onto your workspace.

d. Use the pull-down menu in the first box to choose HBB cDNA, Homo sapiens sequence. (The normal hemoglobin B coding
sequence)
Use the pull-down menu in the second box to choose the HBS_CDS__homo-sapiens DNA sequence (sickle-cell hemoglobin) to
compare to the first sequence. Make sure that BOTH boxes to the left of the screen are checked.

e. Use the COMPARE button to begin an alignment protocol using “CLUSTAL W”

f. Mismatched nucleotides are marked in yellow.

How many nucleotides are different? ______________________

Was your predicted change recorded? ______________________

What was the change and at what nucleotide position? ________________

Does the change at position 9 (or 212) produce a change in the amino acid sequence of HbB? What is the change or why is there no
change?
 2b

2d

2c
2e

2f