13

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OBSERVING PATTERNS
IN INHERITED TRAITS
Chapter Outline

13.1 MENACING MUCUS 13.6 NATURE AND NURTURE

Some Environmental Effects
13.2 MENDEL, PEA PLANTS, AND
INHERITANCE PATTERNS Alternative Phenotypes in Water Fleas
Mendel’s Experiments Seasonal Changes in Coat Color
Inheritance in Modern Terms Effects of Altitude on Yarrow
13.3 MENDEL’S LAW OF SEGREGATION Psychiatric Disorders
13.4 MENDEL’S LAW OF INDEPENDENT 13.7 COMPLEX VARIATION IN TRAITS
ASSORTMENT Continuous Variation

The Contribution of Crossovers MENACING MUCUS (REVISITED)

13.5 BEYOND SIMPLE DOMINANCE SUMMARY

Codominance SELF-QUIZ
Incomplete Dominance GENETICS PROBLEMS
Epistasis DATA ANALYSIS ACTIVITIES
Pleiotropy

Learning Objectives

13.1 Examine the negative consequences of the genetic disorder known as cystic fibrosis.
13.2 Examine how alleles contribute to traits.
13.3 Demonstrate Mendel’s law of segregation using a monohybrid cross.
13.4 Demonstrate Mendel’s law of independent assortment using a dihybrid cross.
13.5 Outline the different ways in which an allele can influence an inherited trait using Punnett squares.
13.6 Examine the influence of the environment on the phenotype of an organism using examples.
13.7 Examine the characteristics of continuous variation.

Key Terms

bell curve dihybrid cross genotype hybrid

codominance dominant heterozygous incomplete dominance
continuous variation epistasis homozygous

Observing Patterns in Inherited Traits 109

 law of independent locus pleiotropy testcross
assortment monohybrid cross Punnett-square
law of segregation multiple allele system recessive
linkage group phenotype short tandem repeats

Lecture Outline

13.1 Menacing Mucus

A. Cystic fibrosis is the most common fatal disorder in the United States.
1. This disorder occurs when a mutation prevents the CFTR protein from reaching the cell
surface.
2. The normal functioning CFTR protein also helps the body defend itself against bacteria.
a. In normal individuals the CFTR protein binds bacteria and initiates cellular defenses.
b. Cystic fibrosis patients do not have a CFTR protein on the cell surface; bacteria are
not recognized and destroyed, thus chronic bacterial infections are a problem in these
individuals.
B. About 1 in 25 people carry the CFTR mutation in one of their two copies of the gene; in
about 1 in 3300 births, both copies of the CFTR are mutated, causing cystic fibrosis.

13.2 Mendel, Pea Plants, and Inheritance Patterns

A. Gregor Mendel used experiments in plant breeding and knowledge of mathematics to form
his hypotheses.
B. Mendel’s Experimental Approach
1. Mendel used the garden pea in his experiments.
a. This plant can fertilize itself; true-breeding varieties were available to Mendel.
b. Peas can also be cross-fertilized by human manipulation of the pollen.
2. Mendel cross-fertilized true-breeding garden pea plants that had clearly contrasting traits
(e.g., white versus purple flowers).
3. Mendel hypothesized that clearly observable differences might help him track the trait
and identify inheritance patterns and heredity.
C. Terms Used in Modern Genetics
1. Genes are units of information about specific traits, each located at a particular locus on a
chromosome.
2. Diploid cells have two genes (a gene pair) for each trait—each on a homologous
chromosome.
3. Mutation alters a gene’s molecular structure; alleles are various molecular forms of a gene
for the same trait.
4. True-breeding lineage occurs when offspring inherit identical alleles, generation after
generation; non-identical alleles produce hybrid offspring.
5. When both alleles are the same, the condition is called the homozygous condition; if the
alleles differ, it is the heterozygous condition.
6. When heterozygous, one allele is dominant (A), and the other is recessive (a).
7. Homozygous dominant = AA; homozygous recessive = aa; and heterozygous = Aa
8. Genotype is the particular alleles an individual carries; phenotype is how the genes are
expressed physically (what you observe).

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 9. P = true-breeding parental generation; F1 = first-generation offspring; F2 = second-
generation offspring of self-fertilized or intercrossed F1 individuals.

13.3 Mendel’s Law of Segregation

A. Alleles and Meiosis
1. Each member of a chromosome pair contains one allele of a gene; individuals have two
copies of each chromosome and thus two copies of every gene.
2. During meiosis, the chromosomes pair and separate such that each gamete contains one
copy of each chromosome, and thus one copy of every gene (law of segregation).
B. Testcrosses
1. Individuals that have a dominant trait, which genotypically could be homozygous or
heterozygous, are crossed to individuals that have the recessive trait, which are known to
be homozygous.
2. If the progeny segregate 1:1 for the dominant and recessive trait, then the parent with the
dominant trait was a heterozygote.
3. If the progeny all have the dominant trait, the parent with the dominant trait was a
homozygote.
C. Monohybrid Experiment Predictions
1. Mendel’s first experiments were monohybrid crosses.
a. Monohybrid crosses have two parents that are true-breeding for contrasting forms of
a trait (white versus purple flowers).
b. One form of the trait (white) disappears in the first generation offspring (F 1), only to
show up in the second generation (F2).
c. We now know that all members of the F1 offspring are heterozygous (Aa) because
one parent could produce only an A gamete and the other could produce only an a
gamete.
2. In the F2 generation, the white flowers reappeared.
a. The numerical ratios of crosses suggested that genes do not blend.
b. For example, the F2 offspring showed a 3:1 phenotypic ratio of purple to white.
c. Mendel assumed that each sperm has an equal probability of fertilizing an egg. This
can be seen most easily by using the Punnett square.
d. Thus, each new plant has three chances in four of having at least one dominant allele.

13.4 Mendel’s Law of Independent Assortment

A. Dihybrids are the offspring of parents that breed true for different versions of two traits.
1. Mendel also performed experiments involving two traits—a dihybrid cross.
2. A dihybrid cross is started by first crossing two true-breeding parents, each exhibiting
two forms of two different traits. The resulting F1 hybrids were allowed to self-fertilize,
giving rise to offspring of 16 different combinations.
a. Mendel correctly predicted that all F1 plants would show both of the dominant
alleles (e.g., all purple flowers and all tall plants).
b. Mendel wondered if the genes for flower color and plant height would travel
together when two F1 plants were crossed.
3. The F2 results showed nine-sixteenths were tall and purple-flowered (both dominant
forms of the trait), and one-sixteenth were dwarf and white-flowered (both recessive
forms of the trait)—as were the original parents; however, there were three-sixteenths
each of two new combinations: dwarf purple-flowered and tall white-flowered.

Observing Patterns in Inherited Traits

 B. Mendel’s law of independent assortment states that as meiosis ends genes on different pairs
of homologous chromosomes are sorted into gametes independently of each other; the same
is true for genes located far apart on the same chromosome.
C. Genes located close together on the same chromosome do not independently assort; instead
they are frequently inherited together (linked).

13.5 Beyond Simple Dominance

A. Codominance in ABO Blood Types
1. Codominance is when a pair of nonidentical alleles affecting two phenotypes are both
expressed at the same time.
2. In codominance, both alleles are expressed in heterozygotes.
3. Blood type is determined by markers produced by three genes.
4. The occurrence of more than three alleles for a single gene locus available to individuals
in the population is called a multiple allele system.
a. IA and IB are each dominant to i, but are codominant to each other.
b. Therefore, some persons can express both genes and have AB blood.
B. Incomplete Dominance
1. In incomplete dominance, a dominant allele cannot completely mask the expression of
another.
2. Phenotype will be an intermediate between the two traits.
3. For example, a true-breeding red-flowered snapdragon crossed with a white-flowered
snapdragon will produce pink flowers because there is not enough red pigment
(produced by the dominant allele) to completely mask the effects of the white allele.
C. Epistasis
1. Many phenotypes are due to the action of multiple gene products.
2. In Labrador retrievers, one gene pair codes for the quantity of melanin produced while
another codes for melanin deposition.
3. Still another gene locus determines whether melanin will be produced at all—absence of
melanin produces an albino (recessive).
4. Two interacting gene pairs can give rise to a phenotype in which neither produces by
itself.
5. Another example: there are four comb shapes in chickens; these four different shapes are
due to the interaction between two genes (R and P); the phenotypes are walnut comb (R-
P-), rose comb (R-pp), pea comb (rrP-), and single comb (rrpp).
D. Pleiotropy
1. Sometimes the expression of alleles at one location can have effects on two or more traits;
this is termed pleiotropy.
2. Marfan syndrome is caused by an autosomal-dominant mutation of the gene for fibrillin,
a protein found throughout the body in connective tissue.
3. Marfan syndrome is characterized by these effects: lanky skeleton, leaky heart valves,
weakened blood vessels, deformed air sacs in lungs, pain, and lens displacement in the
eyes.

13.6 Nature and Nurture

A. The environment contributes to variations in gene expression among individuals in a
population; the inheritance of chromatin modifications likely plays a role.
1. The fur of the snowshoe hare varies by season: brown in the summer, white in the winter.
2. Cuttings from yarrow plant clones grew differently at three different altitudes.

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 3. Water fleas have different phenotypes depending on the presence or absence of
predators.
4. Some people tolerate stress better than others, perhaps due to differences in the gene for
a serotonin-transporting protein. Serotonin compromises response to stress.
B. Environmentally driven changes in gene expression can be inherited due to epigenetic
changes in gene expression .

13.7 Complex Variations in Traits

A. Continuous Variation
1. A given phenotype can vary, by different degrees, from one individual to the next in a
population as a result of interactions with other genes and environmental influences.
a. This feature is known as polygenic inheritance, where many genes along a particular
chromosome affect one trait.
b. In humans, eye color and height are examples.
2. Most traits are not qualitative, but show continuous variation and have an additive effect
on phenotype.
B. Regarding the Unexpected Phenotype
1. Tracking even a single gene through several generations may produce results that are
different than expected.
2. Camptodactyly (immobile, bent fingers) can express itself on one hand only, both hands,
or neither due to the possibility that a gene product is missing in one of the several steps
along the metabolic pathway.

Suggestions for Presenting the Material

• Students are usually naturally curious and interested in genetics. Start first with the simple
examples of Mendel’s monohybrid and dihybrid crosses before fielding questions on human traits
such as height or eye color. Emphasize the remarkable nature of Mendel’s work; remind the
students that he knew nothing of chromosomes and their behavior, and that the term gene did not
exist until several years after his death.
• Use Mendel’s experiments and his conclusions as real-life examples of the scientific method at
work. Ask questions to make sure students understand monohybrid and dihybrid crosses and
testcrosses.
• Emphasize genetic terms and the figures that make use of these terms. Use Fig. 13.5 to ensure that
students can visualize homologous chromosomes, gene loci, alleles, and gene pairs.
• Students should be able to relate the events of meiosis to the concepts of segregation and indepen-
dent assortment; if their understanding of meiosis is weak, they will have trouble doing this.
• Many students come into college biology classes with the misconception that dominant alleles are
“better” or more common than the recessive alleles. This misconception also makes it difficult for
these students to understand non-Mendelian patterns of inheritance discussed at the end of
Chapter 13. Stress to your students that dominant does not mean the most abundant or most
advantageous trait. Give some examples of complete dominance with alleles that are harmful,
undesirable, or lethal, such as polydactyly (extra digits), achondroplasia (dwarfism), and
Huntington’s disease (lethal degenerative neurological disorder).
• Beginning with this chapter, students will be quick to ask questions about human traits, many of
which are governed by mechanisms more complex than those postulated by Mendel. Answer
questions in this area during (or after) the discussion of variations on Mendel’s themes, presented
in the second half of this chapter.

Observing Patterns in Inherited Traits

 Remind students that the statistical probabilities obtained from Punnett squares are not absolute.
There will be some variance, but large sample sizes reduce the likelihood.

Classroom and Laboratory Enrichment

• Ask groups of students to conduct coin tosses. Demonstrate the importance of large sample size by
having the students vary the number of tosses before calculating variation from expected ratios.
• Distribute PTC tasting paper to your students, and calculate the number of tasters and nontasters
in the classroom. You can also use different physical traits such as tongue rolling or earlobe
attachment.
• Expand the biographical sketch of Mendel, including his education and practice as a clergyman.
Enliven your presentation with as many slides of photos as you can find.
• Hand out a partially completed pedigree, and show students how to assign squares and circles for
their family. Then ask them to select a trait and complete the pedigree after surveying the family
members for presence/absence of the trait.
• Select a portion of the class to reenact the photo in Figure 13.17A. If the quantity of students chosen
does not provide a bell-shaped curve, use this as an illustration of how the greater number of
trials/subjects/experiments tends to increase probability.
• Show this TEDEd video on genetics http://ed.ted.com/lessons/how-mendel-s-pea-plants-helped-
us-understand-genetics-hortensia-jimenez-diaz
 Have students do a couple of quick practice Punnett squares (Tt X tt). Students should try to
explain the given probabilities and describe possible phenotypes.
 There are many interesting websites that give possible phenotypes of offspring from parents that
have different eye color; this shows students the complexity of polygenic inheritance.
 Demonstrate cross fertilization by bringing two large ornamental flowers to class and performing
the cross in front of the students.
• An activity to help demonstrate how genotype governs phenotype can be a nice break from
lecture. Using the example of fictitious genes may seem oversimplified and silly to you, but
students will enjoy the break. To show incomplete dominance: The “L” gene codes for laughter,
the “L” allele codes an enzyme producing very loud laughter, and the “l” allele codes for an
enzyme that produces no laughter.
Without explaining what you are demonstrating, hand two students papers with L and have them
come to the front of the class. Hand two other students papers with l and have them come to the
front, too. Point out that each student represents one chromosome that is carrying an allele for the
L gene. Pair the chromosomes (students) by grouping like alleles (LL and ll). Then have the
students demonstrate their phenotypes: LL students laugh loudly and ll students remain silent.
Now, illustrate segregation by having the alleles (student groups) separate; show fertilization
when an L and an l come together. Within each new group, have the L students laugh while the l
students remain silent. Point out that the volume of laughing in the Ll individual is about half what
it was in the LL individual. This is how a trait showing incomplete dominance works.
You can extend this to include epistasis: CCHH, CCHh, CcHH, CcHh—no hand clapping despite
the “C” allele, because the “H” allele is present and inhibits the “C” allele from expressing (student
can hold the clappers’ hands); CChh, Cchh—hand clapping; no inhibitor is present; ccHh, ccHH,
cchh—no hand clapping because no “C” allele is present.

Chapter Thirteen
Classroom Discussion Ideas
• Describe the behavior of one trait with regard to its inheritance in a particular cross; then ask stu-
dents to identify the genetic mechanism at work (simple dominance, recessive inheritance,
incomplete dominance, codominance, epistasis, pleiotropy, polygenic inheritance).
 Cystic fibrosis has been targeted for gene therapy. Discuss the pros and cons of using gene therapy
to help cystic fibrosis patients.
 Discuss the pros and cons of requiring individuals to be genetically screened for disorders such as
cystic fibrosis. Ask the students to think about how their opinion on having children might change
if they knew they were carriers.
• List some human traits that you would guess are governed by a single gene.
• Give several reasons why Mendel’s pea plants were a good choice for an experimental organism in
genetics. Give an example of an organism that would be a poor choice for genetic research and ex-
plain your choice.
 Conduct a quick review in class of the various inheritable traits. Ask the students what kind of
inheritance pattern the trait is an example of.
• Describe several different crosses using organisms such as Mendel’s pea plants. Then ask students
to calculate phenotypic and genotypic ratios for each cross.
• Discuss the significance of Mendel’s use of mathematical and statistical analysis in his research.
• Why do you think Mendel was not immediately recognized as the discoverer of a new area of
biology—genetics?
 Why does the gene interaction (incomplete dominance) NOT support the blending theory? How
does it resemble the blending theory?
• What conclusions might Mendel have made if he had chosen snapdragons instead of peas for his
study material?
• Why are the traits of human skin color and height not suitable for explaining the concept of simple
dominance?
• There are four possible blood types in the ABO system. But how many different alleles are in the
human population for this marker?
• What is the subtle difference between incomplete dominance and codominance?
• What is the significance of using upper- and lower-case versions of the same letter (for example, A
and a) for the dominant and recessive trait, respectively, rather than a capital A for dominant and
the letter B (or b) for recessive?
 Assign the following paper to students and hold an in-class discussion/debate for and against
genetic screening for diseases. Norrgard, K. (2008) Ethics of genetic testing: medical insurance and
genetic discrimination. Nature Education 1(1):90

How Would You Vote? Classroom Discussion Ideas

• Monitor the voting for the online question. Genetic tests are available online and in some
drugstores. Ask the students to consider this: insurance companies already charge increased rates
or deny coverage for individuals who have a medical history, so how is charging a higher
premium or denying coverage based on genetic testing any different? The students should also
consider the mental health of an individual who discovers through genetic testing that they will
die at an early age (for example, Huntington’s disease). Should there be legislation that requires
counseling for those individuals who wish to undergo genetic testing?

Observing Patterns in Inherited Traits

Term Paper Topics, Library Activities, and Special Projects
• What organisms are used most frequently in modern genetic research, and why?
• Describe the legal role now played by blood-type evidence in paternity cases. Are other aspects of
blood genetics (other than the ABO series) now used in deciding such cases?
• How do you think Charles Darwin’s writings on his theory of evolution might have changed had
he read about Mendel’s work?
• Describe examples of how modern knowledge of genetics has led to improved agricultural strains
of plants and animals.
• Search for details of Mendel’s life and work. Seek answers to the allegations that his results may
have been “too good.”
• When studying genetics, it is easy to discover variations in plants and animals that result in organ-
isms that, even though related, are very different in appearance. How does a researcher prove
whether or not the variants are or are not the “same species”?
• Research and describe other examples of epistasis in organisms.
• Prepare an update on the extent of Marfan syndrome in the United States and the world. Include
in your report the consequences for those persons who are recessive and those who are carriers.
• Sickle-cell anemia is an example of pleiotropy that results from an abnormal hemoglobin in which
valine is substituted for glutamate. Research the symptoms and explain the mechanism.
• Research recent reports that scientists may be able to reactivate the production of fetal hemoglobin
to offset the effects of sickle-cell anemia.

Possible Responses to Data Analysis Activities Questions

1. Approximately 600,000 bacteria enter normal cells and 80,000 enter mutated cells. Therefore, about 7.5
times more bacterium enter the normal cells.
2. Ty2 enters most easily. Approximately 600,000 Ty2 bacteria enter the normal cells compared to
approximately 75,000 of strain 167 and 200,000 of strain 7251.
3. All of the strains have about an eight-fold reduction in number of bacteria that enter the cells. The
differences in numbers of bacteria internalized into normal versus mutated cells are as follows: Ty2,
600,000 versus 80,000 (7.5-fold reduction); strain 167, 75,000 versus 10,000 (7.5-fold reduction) and
strain 7251, 200,000 versus 25,000 (8-fold reduction). Thus, all the strains are similarly inhibited by the
CFTR mutation.

Chapter Thirteen