The Making of The Fittest - Natural Selection and Adaptation

The Making of the Fittest: LESSON
Natural Selection in Humans STUDENT HANDOUT
MENDELIAN GENETICS, PROBABILITY, PEDIGREES,

AND CHI-SQUARE STATISTICS
INTRODUCTION
Hemoglobin is a protein found in red blood cells (RBCs) that transports oxygen throughout the body. The hemoglobin
protein consists of four polypeptide chains: two alpha chains and two beta chains. Sickle cell disease (also called sickle
cell anemia) is caused by a genetic mutation in the DNA sequence that codes for the beta chain of the hemoglobin
protein. The mutation causes an amino acid substitution, replacing glutamic acid with valine. Due to this change in
amino acid sequence, the hemoglobin tends to precipitate (or clump together) within the RBC after releasing its oxygen.
This clumping causes the RBC to assume an abnormal “sickled” shape.
Individuals who are homozygous for the normal hemoglobin allele (HBA) receive a normal hemoglobin allele from each
parent and are designated AA. People who are homozygous for normal hemoglobin do not have any sickled RBCs.
Individuals who receive one normal hemoglobin allele from one parent and one mutant hemoglobin, or sickle cell allele
(HBS), from the other parent are heterozygous and are said to have sickle cell trait. Their genotype is AS. Heterozygous
individuals produce both normal and mutant hemoglobin proteins. These individuals do not have sickle cell disease, and
most of their RBCs are normal. However, due to having one copy of the sickle cell allele, these individuals do manifest
some sickling of their RBCs in low-oxygen environments. People with sickle cell disease are homozygous for the sickle cell
allele (SS genotype); they have received one copy of the mutant hemoglobin allele from each parent. The resulting
abnormal, sickle-shaped RBCs in these people block blood flow in blood vessels, causing pain, serious infections, and
organ damage.
MATERIALS
critical values table (see page 12)
PROCEDURE
1. Watch the short film The Making of the Fittest: Natural Selection in Humans. While watching, pay close attention to the
genetics of sickle cell trait and the connection to malaria infection.
2. Answer the following questions regarding genetics, probability, pedigrees, and the chi-square statistical analysis test.
Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics Published July 2012
Revised October 2013
www.BioInteractive.org Page 1 of 12
QUESTIONS
MENDELIAN GENETICS AND PROBABILITY
1. If two people with sickle cell trait have children, what is the chance that a child will have normal RBCs in both high-
and low-oxygen environments? What is the chance that a child will have sickle cell disease? Write the possible
genotypes in the Punnett square.
AA AS Normal RBCs in high- and

low-oxygen environments ____________
SS
AS SS
Sickle cell disease ____________
ss
a. What is the chance that a child will carry the HbS gene but not have sickle cell disease? ___________________
1/2
b. What are the chances that these parents will have three children who are homozygous for normal RBCs? (Show
your work.) ___________________________
(1/4)^3 = 1/64
c. What are the chances that these parents will have three children who have both normal and mutant
hemoglobin beta chains? (Show your work.) ___________________________
(1/2)^3 = 1/8
d. What are the chances that all three of their children will show the disease phenotype? (Show your work.)
___________________________
(1/4)^3 = 1/64
e. What are the chances that these parents will have two children with sickle cell trait and one with sickle cell
disease? (Show your work.) ___________________________
1/4 . 1/2 . 1/2 . 3 = 3/16
f. In the cross above, if you know that the child does not have sickle cell disease, what is the chance that the child has
sickle cell trait? ___________________
2/3
2. An individual who has sickle cell trait has children with an individual who does not have the HbS allele.
a. What are the genotypes of the parents? ____________________
sickle cell trait, no disease
b. In the Punnett square, show all the possible genotypes of their children. State the genotype and phenotype
ratios of the offspring.
AA AA
AS AS
c. What are the chances that any one of this couple’s children will have sickle cell disease? __________________
0%
d. If this couple lives in the lowlands of East Africa, what are the chances that one of their children would be
resistant to malaria if exposed to the malaria parasite? _________________
1/2
Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics
3. A woman with sickle cell disease has children with a man who has sickle cell trait. Answer the following questions.
a. AS, SS
What are the genotypes of the parents? ____________________
S
b. What is the genetic makeup of the gametes the mother can produce? ___________
c. A,S
What is the genetic makeup of the gametes the father can produce? ___________
d. In the Punnett square, show all the possible genotypes of their children. Then summarize the genotype and
phenotype ratios of the possible offspring.
AS SS Genotype ratio: 2:2

Phenotype ratio: 2:2
AS SS
e. What are the chances that any one of this couple’s children will have sickle cell disease?
_______________________________________
1/2
f. If this couple moves to the lowlands of East Africa and has children, which of their children would be more likely
to survive? Explain your answer.
The one with sickle cell trait, because the heterozygous alleles pair is more resistant to
malaria.
4. In humans, blood type is a result of multiple alleles: IA, IB, and iO. A few simple rules of blood type genetics are that
• IA is dominant over iO,
• IB is dominant over iO, and
• IAIB are codominant.
Two parents who are heterozygous for type A blood and have sickle cell trait have children. Answer the following
questions.
a. IAIO AS
What is the genotype of the parents? ____________________
IAA, IAS, IOA, IOS
b. What are the genetic makeups of all the possible gametes they can produce? ____________________
c. Complete the dihybrid Punnett square to determine the frequency of the different phenotypes in the offspring.
(Note: Consider blood type and normal versus mutant hemoglobin in the various phenotypes.)
IAIA IAIA IOIA IOIA Phenotype ratios:

AA SA AA SA 3:1 x 1:2:1 = 3:6:3:1:2:1
IAIA IAIA IOIA IOIA
AS SS AS SS
IAIO IAIO IOIO IOIO
AA SA AA SA
IAIO IAIO IOIO IOIO
AS SS AS SS
5. Now try a different way of solving a dihybrid cross. Because of Mendel’s (second) law of independent assortment,
you can work with the blood type gene and the hemoglobin gene separately. Set up two monohybrid crosses with
the following parents: the mother is heterozygous for type B blood and has sickle cell trait, while the father has type
AB blood and also has sickle cell trait.
IBIA IBIB AS AS
IOIA IOIB AA SS
a. What are the chances that a child of this couple will have type B blood and sickle cell trait? (Show your work.)
_________________________________________
1/2 . 1/2 = 1/4
b. What are the chances that a child will have type AB blood and will not have sickle cell disease? (Show your work.)
_________________________________________
1/4 . 3/4 = 3/16
c. What are the chances that a child will have type B blood and sickle cell disease? (Show your work.)
_________________________________________
1/2 . 1/4 = 1/8
d. What are the chances that a child will have type B blood and at least some normal hemoglobin? (Show
your work.)
1/2 . 3/4 = 3/8
PEDIGREES
6. The following pedigree traces sickle cell disease through three generations of a family. Use the pedigree to answer
the following questions.
Female Male
a. AS
What is the genotype of the father in the first generation? ___________________
b. What is the genotype of the daughter in the second generation? SS
___________________
c. What is the genotype of individual 3 in the second generation? How do you know?
AS, because he has a children with the disease but have normal phenotype
d. If the couple in the second generation has another child, what are the chances the child will have the following?
1/2
Sickle cell disease __________ Sickle cell trait 1/2
__________ Completely normal hemoglobin 0
__________
e. If the entire family moves to the lowlands of East Africa, four of the five males in the pedigree will have two
genetic advantages over the other individuals in the family. Explain the two advantages.
1, not having sickle cell disease
2, resistant to malaria
7. The following pedigree traces sickle cell disease through four generations of a family living in New York City. Use the
pedigree to answer the following questions.
a. SS
What is the genotype of the mother in the first generation? __________
b. AS, AA
What are the possible genotypes of the father in the first generation? __________
c. What can you say about the genotype of all the children of the couple in the first generation? Explain your
answer.
AS, because they receive S from the mother and have normal phenotype
d. Regarding the answer to Question 7c, based on where the family resides, why would this genotype be
considered a disadvantage?
yes
e. What are the genotypes of the parents in the third generation? Explain how you know.
AS
Mother _________ AS
Father _________
Children who have the disease must inherit one S from both parents each, and the
parents have normal phenotype
f. AS or AA
What is the possible genotype or genotypes of the mother in the second generation? __________
g. If the couple in the third generation has another child, what are the child’s chances of the following?
1/4
Having sickle cell disease __________
1/2
Having sickle cell trait __________
1/4
Being homozygous for normal RBCs __________
1/2
Being resistant to malaria and not having sickle cell disease __________
8. The following pedigree traces sickle cell disease through four generations of a family living in the highlands of
eastern Africa. Use the pedigree to answer the following questions.
a. What are the genotypes of the following individuals? (If more than one genotype pertains, include all
possibilities.)
AS
Individual 1 __________ AS, AA
Individual 10 __________
SS
Individual 2 __________ AS
AS
Individual 7 __________ AA, AS
b. If individuals 13 and 14 have another child, what are the chances that the child will have sickle cell disease?
______________
1/4
c. If the same couple has three more children, what are the chances that the three children will have sickle cell
trait? (Show your work.) ___________________________________________
1/8
d. Based on where this family lives, is the sickle cell trait genotype a genetic advantage? Explain.
Yes, because it provides resistance to malaria
e. If individuals 8 and 9 have four more children, what are the chances that two of the children will be homozygous
for normal RBCs? Explain why.
none, because children will always receive one S from mother.
9. Imagine that you are a genetic counselor, and a couple planning to start a family comes to you for information.
Jerome was married before, and he and his first wife have a daughter with sickle cell disease. The brother of his
current wife, Michaela, died of complications from sickle cell disease, but neither of her parents has the disease.
a. Draw a pedigree representing this family. Be sure to clearly label Jerome and Michaela.
Jerome: AS
Michaela: 1/3 AA, 2/3 AS
b. What is the probability that Jerome and Michaela will have a baby with sickle cell disease? Note that neither
Jerome nor Michaela has sickle cell disease. (Show your work.)
1/2S . 1/3S = 1/6
10. Natasha and Demarcus are planning on having children. Each has a sister with sickle cell disease. Neither Natasha nor
Demarcus nor any of their parents have the disease, and none of them has been tested to see if they have sickle cell
trait.
a. Draw a pedigree representing this family. Be sure to clearly label Natasha and Demarcus.
Demarcus and Natasha both are 1/3AA, 2/3AS
b. Based on this incomplete information, calculate the probability that if this couple has a child, the child will have
sickle cell disease.
1/3 . 1/3 = 1/9
CHI-SQUARE STATISTICS
11. Multiple couples living in a small village in the eastern African lowlands, all of whom are heterozygous for the HbS
allele, have 500 children among them. Of these children, 139 are homozygous for HbA, 279 are heterozygous for HbS,
and 82 suffer from sickle cell disease. Are these data statistically significant? Explain using a chi-square statistical
analysis test.
Chi-Square Data Table
Phenotype/Genotype Observed (o) Expected (e) (o − e) (o − e)2/e
AA 139 125 14 0.976

AS 279 250 29 3.36
SS 82 125 -43 14.8
a. What is the chi-square value (χ2)? _19.136

________
b. 2
Calculate the degrees of freedom (df). __________
c. Using the critical values table (see page 12), determine the P value. 0.05
__________
d. Interpret the P value as it relates to these data. Explain the significance.
There is less than 5% chance that what is observed happen by chance
e. Which of the children have the greatest chance of survival? Explain why.
AS, because they are resistant to malaria
12. Suppose there are 50 couples with the same blood type and hemoglobin genotypes. They live on a small, isolated
Pacific island on which very few mosquitoes have been identified. All the individuals are heterozygous for type A
blood and have sickle cell trait. The 50 couples had 224 children over the years. The children were all tested for blood
type and for the presence of the sickle cell allele. Here are the results.
Testing Results
Blood Test Results Number of
Children
Type A, normal RBCs 48
Type O, normal RBCs 18
Type A, sickle cell trait 92
Type O, sickle cell trait 33
Type A, sickle cell disease 27
Type O, sickle cell disease 6
Are these data significant? Explain using a chi-square statistical analysis test. (Use the table below if you need
assistance.)
Phenotype Observed (o) Expected (e) (o − e) (o − e)2/e
Type A, normal RBCs 48 42 6 0.857

Type O, normal RBCs 18 14 4 1.14
Type A, sickle cell trait 92 84 8 0.762
Type O, sickle cell trait 33 28 5 0.893
Type A, sickle cell disease 27 42 15 5.36
Type O, sickle cell disease 6 14 8 4.57
a. 13.582
What is χ2? __________
b. 5
Calculate df. __________
c. Using the critical values table, determine the P value. 11.070
__________
d. Interpret the P value as it relates to these data. Explain the significance.
There is less than 5% that this result happens by chance
e. From what you know about hemoglobin, sickle cell disease, and blood type, what selection pressure is acting
on this population of children and causing the null hypothesis to be rejected? Explain your answer. (Hint: Look
at the actual differences between the observed and expected numbers.)
There are fewer children with sickle cell disease because the disease is fatal
f. Due to the increase in global travel and the prevalence of invasive species, the Anopheles mosquito carrying the
malaria parasite was inadvertently introduced to this isolated Pacific island. A researcher, 100 years from the
present day, decides to complete a follow-up study and monitors another 50 couples who are all heterozygous
for type A blood and have sickle cell trait. These couples had 136 children. Based on the introduction of the
Anopheles mosquito carrying the malaria parasite, predict scientifically logical observed numbers of children for
each genotype possibility and complete a chi-square statistical analysis test.
Phenotype Predicted Observed Expected (e) (o − e) (o − e)2/e
(o)
Type A, normal RBCs 25 25.5 0.5 0.0098
Type O, normal RBCs 5 8.5 3.5 1.44
Type A, sickle cell trait 55 51 4 0.314
Type O, sickle cell trait 21 17 4 0.941
Type A, sickle cell disease 23 25.5 2.5 0.245
Type O, sickle cell disease 7 8.5 1.5 0.265
i. What is your predicted chi-square value (χ2)? 3.303

__________
5
ii. Calculate df. __________
0.05
iii. Using the critical values table, determine the predicted P value. __________
accept
iv. From your predicted numbers, do you accept or reject the null hypothesis? __________
v. Based on what you know about hemoglobin, sickle cell disease, blood type, and malaria, what selection
pressures are acting on this population of children? Explain your answer.
The resistance of heterozygous children
CRITICAL VALUES TABLE

P 0.995 0.975 0.9 0.5 0.1 0.05 0.025 0.01
df
1 0.000 0.000 0.016 0.455 2.706 3.841 5.024 6.635
2 0.010 0.051 0.211 1.386 4.605 5.991 7.378 9.210
3 0.072 0.216 0.584 2.366 6.251 7.815 9.348 11.345
4 0.207 0.484 1.064 3.357 7.779 9.488 11.143 13.277
5 0.412 0.831 1.610 4.351 9.236 11.070 12.832 15.086
6 0.676 1.237 2.204 5.348 10.645 12.592 14.449 16.812
7 0.989 1.690 2.833 6.346 12.017 14.067 16.013 18.475
AUTHOR
Ann Brokaw, Rocky River High School, Ohio

The Making of The Fittest - Natural Selection and Adaptation

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The Making of The Fittest - Natural Selection and Adaptation

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The Making of the Fittest: LESSON

Natural Selection in Humans STUDENT HANDOUT

MENDELIAN GENETICS, PROBABILITY, PEDIGREES,

AA AS Normal RBCs in high- and

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

AS SS Genotype ratio: 2:2

IAIA IAIA IOIA IOIA Phenotype ratios:

1/2 . 3/4 = 3/8

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

AA 139 125 14 0.976

a. What is the chi-square value (χ2)? _19.136

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

Type A, normal RBCs 48 42 6 0.857

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

i. What is your predicted chi-square value (χ2)? 3.303

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

CRITICAL VALUES TABLE

Mendelian Genetics, Probability, Pedigrees, and Chi-Square Statistics

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