Patterns of Inheritance: Chapter Objectives
Patterns of Inheritance: Chapter Objectives
Patterns of Inheritance: Chapter Objectives
Patterns of Inheritance
Chapter Objectives
Opening Essay
Explain how the people of Tibet represent human adaptations to high altitudes.
Mendel’s Laws
9.1 Describe the theory of pangenes and the blending hypothesis. Explain why both
ideas are now rejected.
9.2 Explain why Mendel’s decision to work with peas was a good choice. Define
and distinguish between true-breeding organisms, hybrids, the P generation, the
F1 generation, and the F2 generation.
9.3 Define and distinguish between the following pairs of terms: homozygous and
heterozygous; dominant allele and recessive allele; genotype and phenotype.
Also, define a monohybrid cross and a Punnett square.
9.3 Explain how Mendel’s law of segregation describes the inheritance of a single
characteristic.
9.4 Describe the genetic relationships between homologous chromosomes.
9.5 Explain how Mendel’s law of independent assortment applies to a dihybrid
cross. Illustrate this law with examples from Labrador retrievers and Mendel’s
work with peas.
9.6 Explain how a testcross is performed to determine the genotype of an organism.
9.7 Explain how and when the rule of multiplication and the rule of addition can be
used to determine the probability of an event. Explain why Mendel was wise to
use large sample sizes in his studies.
9.8 Explain how family pedigrees can help determine the inheritance of many
human traits.
9.9 Explain how recessive and dominant disorders are inherited. Provide examples
of each.
9.10 Compare the health risks, advantages, and disadvantages of the following forms
of fetal testing: amniocentesis, chorionic villus sampling, and ultrasound
imaging. Describe the ethical dilemmas created by advances in biotechnology
discussed in this chapter.
Lecture Outline
I. Introduction
1. The people of Tibet live and work at altitudes above 13,000 feet, where the amount of
oxygen that reaches the blood is 40% less than at sea level.
2. What makes the Tibetan people so able to tolerate their harsh surroundings?
3. Over the last several thousand years, the Tibetan population has accumulated several
dozen genetic mutations that affect their circulatory and respiratory systems.
II. Mendel’s Laws
A. 9.1 The study of genetics has ancient roots
1. The Greek physician Hippocrates explained inheritance by proposing that
a. particles called “pangenes” travel from each part of an organism’s body to eggs or
sperm and
b. characteristics acquired during the parents’ lifetime could be transferred to the
offspring.
2. Hippocrates’s idea is incorrect in several respects.
a. The reproductive cells are not composed of particles from somatic (body) cells.
b. Changes in somatic cells do not influence eggs and sperm.
3. The idea that hereditary materials mix in forming offspring, called the blending
hypothesis, was
a. suggested in the 19th century by scientists studying plants but
b. later rejected because it did not explain how traits that disappear in one generation
can reappear in later generations.
B. 9.2 The science of genetics began in an abbey garden
1. Heredity is the transmission of traits from one generation to the next.
2. Genetics is the scientific study of heredity.
3. Gregor Mendel
a. began the field of genetics in the 1860s,
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ii. A heterozygous genotype has two different alleles.
c. If the alleles of an inherited pair differ, then one determines the organism’s appear-
ance and is called the dominant allele. The other has no noticeable effect on the
organism’s appearance and is called the recessive allele.
i. The phenotype is the appearance or expression of a trait.
ii. The genotype is the genetic makeup of a trait.
iii. The same phenotype may be determined by more than one genotype.
d. A sperm or egg carries only one allele for each inherited character because allele
pairs separate (segregate) from each other during the production of gametes. This
statement is called the law of segregation.
i. The fusion of gametes at fertilization creates allele pairs once again.
6. Mendel’s hypotheses also explain the 3:1 ratio in the F2 generation.
a. The F1 hybrids all have a Pp genotype.
b. A Punnett square shows the four possible combinations of alleles that could occur
when these gametes combine.
D. 9.4 Homologous chromosomes bear the alleles for each character
1. A locus (plural, loci) is the specific location of a gene along a chromosome.
2. For a pair of homologous chromosomes (homologs), alleles of a gene reside at the
same locus.
a. Homozygous individuals have the same allele on both homologs.
b. Heterozygous individuals have a different allele on each homolog.
E. 9.5 The law of independent assortment is revealed by tracking two characters at once
1. A dihybrid cross is a mating of parental varieties that differ in two characters.
2. Mendel performed the following dihybrid cross with the following results:
a. P generation: round yellow seeds × wrinkled green seeds
b. F1 generation: all plants with round yellow seeds
c. F2 generation:
i. 916 had round yellow seeds
ii. 316 had wrinkled yellow seeds
iii. 316 had round green seeds
iv. 116 had wrinkled green seeds
3. Mendel needed to explain why the F2 offspring
a. had new nonparental combinations of traits and
b. had a 9:3:3:1 phenotypic ratio.
4. Mendel
a. suggested that the inheritance of one character has no effect on the inheritance of
another,
b. suggested that the dihybrid cross is the equivalent to two monohybrid crosses, and
c. called this the law of independent assortment.
5. The following figure demonstrates the law of independent assortment as it applies to
two characters in Labrador retrievers:
a. black versus chocolate color, and
b. normal vision versus progressive retinal atrophy.
F. 9.6 Geneticists can use the testcross to determine unknown genotypes
1. A testcross is the mating between an individual of unknown genotype and a
homozygous recessive individual.
2. A testcross can show whether the unknown genotype includes a recessive allele.
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9. Until relatively recently, the onset of symptoms was the only way to know if a person
had inherited the Huntington’s allele.
10. A genetic test is now available that can detect presence of the Huntington’s allele in
an individual’s genome.
11. This is one of the several genetic tests currently available.
J. 9.10 CONNECTION: New technologies can provide insight into one’s genetic legacy
1. Modern technologies offer ways to obtain genetic information
a. before conception,
b. during pregnancy, and
c. after birth.
2. Genetic testing can identify prospective parents who are heterozygous carriers for
certain diseases.
3. Several technologies can be used for detecting genetic conditions in a fetus.
a. Amniocentesis extracts samples of amniotic fluid containing fetal cells and permits
i. karyotyping to detect chromosomal abnormalities such as Down syndrome and
ii. biochemical tests on cultured fetal cells to detect other conditions, such as
Tay-Sachs disease.
b. Chorionic villus sampling (CVS) removes a sample of chorionic villus tissue from
the placenta and permits similar karyotyping and biochemical tests.
4. Blood tests on the mother at 15–20 weeks of pregnancy can help identify fetuses at
risk for certain birth defects.
5. Fetal imaging enables a physician to examine a fetus directly for anatomical
deformities. The most common procedure is ultrasound imaging, using sound waves
to produce a picture of the fetus.
6. Newborn screening can detect diseases that can be prevented by special care and
precautions.
7. New technologies raise ethical considerations that include
a. the confidentiality and potential use of results of genetic testing,
b. time and financial costs, and
c. the determination of what, if anything, should be done as a result of the testing.
III. Variations on Mendel’s Laws
A. 9.11 Incomplete dominance results in intermediate phenotypes
1. Mendel’s pea crosses always looked like one of the parental varieties, a situation
called complete dominance.
2. For some characters, the appearance of F1 hybrids falls between the phenotypes of the
two parental varieties. This is called incomplete dominance.
3. One example of incomplete dominance in humans is hypercholesterolemia, in which
a. dangerously high levels of cholesterol occur in the blood and
b. heterozygotes have intermediately high cholesterol levels.
B. 9.12 Many genes have more than two alleles in the population
1. Although each individual carries, at most, two different alleles for a particular gene, in
cases of multiple alleles, more than two possible alleles exist in a population.
2. Human ABO blood group phenotypes involve three alleles for a single gene.
3. The four human blood groups, A, B, AB, and O, result from combinations of these
three alleles.
4. The A and B alleles are both expressed in heterozygous individuals, making both
alleles codominant.
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D. 9.19 Geneticists use crossover data to map genes
1. When examining recombinant frequency, Alfred H. Sturtevant, one of Morgan’s
students, found that the greater the distance between two genes on a chromosome, the
more points there are between them where crossing over can occur.
2. Recombination frequencies can thus be used to map the relative position of genes on
chromosomes.
3. Such a diagram of relative gene locations is called a linkage map.
V. Sex Chromosomes and Sex-Linked Genes
A. 9.20 Chromosomes determine sex in many species
1. Many animals have a pair of sex chromosomes, designated X and Y, that determine
an individual’s sex.
2. Among humans and other mammals,
a. individuals with one X chromosome and one Y chromosome are males and
b. XX individuals are females.
3. In addition, human males and females both have 44 autosomes (nonsex chromosomes).
4. In mammals (including humans),
a. the Y chromosome has a crucial gene, SRY, for the development of testes, and
b. an absence of the SRY gene directs ovaries to develop.
5. Grasshoppers, roaches, and some other insects have an X-O system, in which
a. O stands for the absence of a sex chromosome,
b. females are XX, and
c. males are XO.
6. In certain fishes, butterflies, and birds,
a. the sex chromosomes are Z and W,
b. males are ZZ, and
c. females are ZW.
7. Some organisms lack sex chromosomes altogether.
8. In most ants and bees, sex is determined by chromosome number.
a. Females develop from fertilized eggs and thus are diploid.
b. Males develop from unfertilized eggs. Males are thus
i. fatherless and
ii. haploid.
9. In some animals, environmental temperature determines the sex.
a. For some species of reptiles, the temperature at which the eggs are incubated during
a specific period of development determines whether the embryo will develop into
a male or a female.
b. Global climate change may therefore impact the sex ratio of such species.
B. 9.21 Sex-linked genes exhibit a unique pattern of inheritance
1. Sex-linked genes are located on either of the sex chromosomes.
2. The X chromosome carries many genes unrelated to sex.
3. The inheritance of white eye color in the fruit fly illustrates an X-linked recessive trait.
C. 9.22 CONNECTION: Human sex-linked disorders affect mostly males
1. Most sex-linked human disorders are
a. due to recessive alleles and
b. seen mostly in males.
2. A male receiving a single X-linked recessive allele from his mother will have the
disorder.
Teaching Tips
• The concept of pangenesis is analogous to the structure of United States representation in
Congress. Each congressional district sends a person (pangene) to the U.S. House of
Representatives (gamete). There, all parts of the United States (body) are represented. (9.1)
• In this or future lectures addressing evolution, you may mention that pangenesis was a
mechanism consistent with Lamarckian evolution. (9.1)
• In Module 9.2, the authors make the analogy between genes and playing cards, noting that
each are shuffled but retain their original identity. This analogy may form a very useful
reference point for your students and can be used later as new principles of genetics are
discussed. (9.2)
• This early material introduces many definitions that are vital to understanding the later
discussions in this chapter. Therefore, students need to be encouraged to master these
116 INSTRUCTOR GUIDE FOR CAMPBELL BIOLOGY: CONCEPTS & CONNECTIONS Copyright © 2015 Pearson Education, Inc.
definitions immediately. This may be a good time for a short quiz to encourage their
progress. (9.2–9.3)
• Many students benefit from a little quick practice with a Punnett square. Have them try
these crosses for practice: (a) PP × pp and (b) Pp × pp. (9.3)
• For students struggling with basic terminology, an analogy between a genetic trait and a
pair of shoes might be helpful. A person might wear a pair of shoes in which both shoes
match (homozygous), or less likely, a person might wear shoes that do not match
(heterozygous). (9.3)
• Another analogy that might help struggling students is a pair of people trying to make a
decision about where to eat tonight. One person wants to eat at a restaurant, the other
wants to eat a meal at home. If this “heterozygous” couple eats at home, the dominant
allele “wins.” (9.3)
• Figure 9.4 can be of great benefit when introducing genetic terminology of genes. For
students struggling to think abstractly, such a visual aid may be essential when describing
these features in lecture. (9.4)
• Dihybrid crosses may be the most difficult concept in this chapter. Consider spending
additional time to make these ideas very clear. As the text indicates, dihybrid crosses are
essentially two monohybrid crosses occurring simultaneously. (9.5)
• Consider challenging your students to explain why a testcross of two black Labs of
unknown genotypes might not reveal the genotype of each dog. (If both dogs are heterozy-
gous, or homozygous, the results would reveal the genotypes because the offspring would
either be three dark and one brown or all dark. But if one black Lab was homozygous and
the other heterozygous, we could not determine which Lab has which genotype.) (9.6)
• Ask your class (a) what the odds are of a person developing Huntington’s disease if a
parent has this disease (50%) and (b) whether they would want this genetic test if they
were a person at risk. The Huntington Disease Society website, www.hdsa.org, offers
many additional details. It is a good starting point for those who want to explore this
disease in more detail. (9.9)
• Medical technology raises many ethical issues. Consider asking your students this practical
question. How much routine fetal testing do we want our insurance companies to cover
and at what cost for health insurance? Ultrasound, for example, is routinely performed on
pregnant women as a normal part of prenatal care. What other tests should be standard?
Who should decide? Who should pay? (9.10)
Teaching Tips
• Incomplete dominance is analogous to a compromise or a gray shade. The key concept is
that both “sides” have input. Complete dominance is analogous to an authoritarian style,
overruling others and insisting on things being a certain way. Although these analogies
might seem obvious to instructors, many students new to genetics appreciate them. (9.11)
• Another analogy for cholesterol receptors is fishing poles. The more fishing poles you use
at the same time, the more fish you are likely to catch. Heterozygotes for hypercholesterol-
emia have fewer “fishing poles” for cholesterol. Thus, fewer “fish” are caught and more
“fish” remain in the water. (9.11)
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• Students can think of blood types as analogous to socks on their feet. You can have socks
that match, have a sock on one foot but not the other, wear two socks that do not match, or
you can even go barefoot (type O blood)! Developed further, think of Amber (A) and Blue
(B) socks. Type A blood can have an Amber sock with either another Amber sock or a
bare foot (or “zero” sock). Blue socks work the same way. One amber and one blue sock
represent the AB blood type. Having no socks, as already noted, represents type O. (9.12)
• Consider specifically comparing the principles of codominance (expression of both alleles)
and incomplete dominance (expression of one intermediate trait). Students will likely
benefit from this direct comparison. (9.12)
• The American Sickle Cell Anemia Association’s website, www.ascaa.org, is a good place
to find additional details. (9.13)
• Polygenic inheritance makes it possible for children to inherit genes to be taller or shorter
than either parent. Similarly, skin tones can be darker or lighter than either parent. The
environment also contributes significantly to the final phenotype for both of these traits.
(9.14)
• The authors note that polygenic inheritance is the opposite of pleiotropy. This is worth
noting in lecture as these concepts are discussed. We often remember concepts better when
they are contrasted in pairs. (9.14–9.15)
• As the authors are careful to note, although genetics and the environment both contribute
to the final phenotypes, only the genetic factors are inherited. This distinction is important
to understanding the limitations of Lamarck’s mechanisms of evolution. If you will
address principles of evolution soon after this chapter, this may be an important distinction
to reinforce in lecture. References to tattoos, piercing, and circumcision may also help to
distinguish between environmental influences and inheritance. Students with tattoos will
not produce children born with tattoos! (9.15)
Teaching Tips
• Figure 9.16 requires an understanding of meiosis and the general cell cycle from
Chapter 8. Students may need to be reminded that chromosomes are duplicated in the
Teaching Tips
• As the text notes, in crocodilians and many turtles, sex is not genetically determined.
Instead, the incubation temperature of the eggs determines an animal’s sex. Students may
enjoy researching this unique form of sex determination, often identified as TSD
(temperature-dependent sex determination). (9.20)
• An analogy can be drawn between sex-linked genes and the risk of not having a backup
copy of a file on your computer. If you only have one copy, and it is damaged, you have to
live with the damaged file. Females, who have two X chromosomes, thus have a “backup
copy” that can function if one of the sex-linked genes is damaged. (9.21)
• Female hemophiliacs are very rare because both X chromosomes would need to have the
recessive trait. Although very unlikely, female hemophiliacs are known. Students may
enjoy searching for details of these rare cases. For additional information about
hemophilia, consider visiting the website of the National Hemophilia Foundation at
www.hemophilia.org. (9.22)
• Hemophilia and other genetic diseases may also result from spontaneous mutations in a
family with no known history of the disease. Although rare, this possibility should always
be considered when tracing the history of an inherited disease. (9.22)
• Like the Y chromosome, mitochondrial DNA (mtDNA) can be used to trace maternal
ancestry (because mitochondria are characteristically inherited from the egg). For a fee,
several commercial groups offer to provide information about a person’s ancestry based on
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genetic samples. Such groups can be found by searching the Internet using the keywords
“genetic ancestry.” (9.23)
Key Terms
ABO blood groups genetics genotype pleiotropy
alleles heredity polygenic inheritance
amniocentesis heterozygous Punnett square
carriers homozygous recessive allele
character Huntington’s disease recombination frequency
chorionic villus sampling hybrids rule of addition
(CVS) incomplete dominance rule of multiplication
chromosome theory of law of independent assortment sex chromosomes
inheritance law of segregation sex-linked gene
codominant linkage map sickle-cell disease
complete dominance linked genes testcross
cross locus (plural, loci) trait
dihybrid cross monohybrid cross true-breeding
dominant allele pedigree ultrasound imaging
F1 generation P generation
F2 generation phenotype
Word Roots
-centesis = a puncture (amniocentesis: a technique for determining genetic abnormalities in a fetus
based on the presence of certain chemicals or defective fetal cells in the amniotic fluid, obtained by
aspiration from a needle inserted into the uterus)
co- = together (codominance: an inheritance pattern in which a heterozygote expresses the distinct
trait of both alleles)
di- = two (dihybrid cross: an experimental mating of individuals differing at two genetic loci)
gen- = produce (genotype: the genetic makeup of an organism)
hetero- = different (heterozygous: having two different alleles for a given gene)
homo- = alike (homozygous: having two identical alleles for a given gene)
mono- = one (monohybrid cross: an experimental mating of individuals differing at one genetic
locus)
pheno- = appear (phenotype: the expressed traits of an organism)
pleio- = more (pleiotropy: the control of multiple phenotypic characteristics by a single gene)
poly- = many; gene- = produce (polygenic inheritance: the additive effect of two or more gene loci
on a single phenotypic character)
re- = again; com- = together; bin- = two at a time (recombinant: an offspring carrying
combinations of alleles different from those in either of its parents as a result of independent
assortment or crossing over)