Solution Manual for Genetics A Conceptual Approach

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Chapter Six: Pedigree Analysis, Applications, and Genetic Testing
COMPREHENSION QUESTIONS

Section 6.1

1. What three factors complicate the task of studying the inheritance of human
characteristics?

Solution:
(1) Mating cannot be controlled. It is not ethical or feasible to set up controlled
mating experiments.
(2) Humans have a long generation time, so it takes a long time to track inheritance
of traits over more than one generation.
(3) The number of progeny per mating is limited, so phenotypic ratios are
uncertain.

Section 6.2

2. Who is the proband in a pedigree? Is the proband always found in the last
generation of the pedigree? Why or why not?

Solution:
The proband is the person of interest for whom the pedigree chart has been drawn.
The proband is not necessarily found in the last generation because the proband’s
children, or the children of the proband’s siblings, often provide information about
the genotype of the proband.

3. For each of the following modes of inheritance, describe the features that will be
exhibited in a pedigree in which the trait is present: autosomal recessive, autosomal
dominant, X-linked recessive, X-linked dominant, and Y-linked inheritance.

Solution:
Pedigrees with autosomal recessive traits will show affected males and females
arising with equal frequency from unaffected parents. The trait often appears to skip
generations. Unaffected people with an affected parent will be carriers. Matings
between two affected individuals will result in 100% affected offspring. If the
genetic condition is rare, affected individuals will often be the result from
consanguineous matings. Pedigrees with autosomal dominant traits will show
affected males and females arising with equal frequency from a single affected
parent. The trait does not usually skip generations. If the trait is fully penetrant,
there will never be affected individuals resulting from two unaffected parents;
however, matings between two affected parents can result in unaffected offspring.

X-linked recessive traits will affect males predominantly. All daughters of an

affected male will be carriers (if their mother does not carry the trait) and half the
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sons of carrier females will express the trait. X-linked recessive traits are not passed
from father to son. Any affected female must have an affected father.

X-linked dominant traits will affect males and females and will be passed from an
affected male to all his daughters, but not to his sons. An affected woman (usually
heterozygous for a rare dominant trait) will pass on the trait equally to half her
daughters and half her sons.

Y-linked traits will show up exclusively in males, passed from father to all of his
sons.

4. How does the pedigree of an autosomal recessive trait differ from the pedigree of an
X-linked recessive trait?

Solution:
Pedigrees of autosomal recessive traits will have equal frequencies of affected
males and females, whereas pedigrees of X-linked recessive traits will show that
most of the affected individuals are male. Any affected females for an X-linked
recessive trait will have an affected father. Also, both parents must be carriers to
have children with autosomal recessive traits, whereas a mother carrying an X-
linked trait can have affected sons regardless of the genotype of the father. Finally,
an X-linked trait is never passed from the father to his sons.

5. Other than the fact that a Y-linked trait appears only in males, how does the
pedigree of a Y-linked trait differ from the pedigree of an autosomal dominant trait?

Solution:
A Y-linked dominant trait is passed from a father to all of his sons, whereas an
autosomal dominant trait would be passed to only half of his sons.

Section 6.3

6. What are the two types of twins and how do they arise?

Solution:
The two types of twins are monozygotic and dizygotic. Monozygotic twins arise
when a single fertilized egg splits into two embryos in early embryonic cleavage
divisions. They are genetically identical. Dizygotic twins arise from two different
eggs fertilized at the same time by two different sperm. They share, on the average,
50% of the same genes.

7. Explain how a comparison of concordance in monozygotic and dizygotic twins can

be used to determine the extent to which the expression of a trait is influenced by
genes or by environmental factors.
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Solution:
Monozygotic twins have 100% genetic identity, whereas dizygotic twins have 50%
genetic identity. Any trait that is completely genetically determined will therefore
be 100% concordant in monozygotic twins and 50% concordant in dizygotic twins.
Conversely, any trait that is completely environmentally determined will have the
same degree of concordance in monozygotic and dizygotic twins. To the extent that
a trait has greater concordance in monozygotic twins than in dizygotic twins, the
trait is genetically influenced. Environmental influences will reduce the
concordance in monozygotic twins below 100%.

8. How are adoption studies used to separate the effects of genes and environment in
the study of human characteristics?

Solution:
Studies of adoptees, their biological parents, and their adoptive parents separate
environmental and genetic influences on traits. Adoptees share similar
environments with their adoptive parents (because they live in the same house and
eat similar foods), but they share 50% of their genes with each of their biological
parents. If adoptees have greater similarity for a trait with their adoptive parents,
then the trait is environmentally influenced. If the adoptees have greater similarity
for the trait with their biological parents, then the trait is genetically influenced.

Section 6.4

9. What is genetic counseling?

Solution:
Genetic counseling provides assistance to clients by interpreting results of genetic
testing and diagnosis; providing information about relevant disease symptoms,
treatment, and progression; assessing and calculating the various genetic risks that
the person or couple faces; and helping clients and family members cope with the
stress of decision-making and facing up to the drastic changes in their lives that
may be precipitated by a genetic condition.

*10. Give at least four different reasons that a person might seek genetic counseling.

Solution:
(1) The person may be aware of a genetic disease or risk factor in the person’s
family.
(2) An older woman may be pregnant or contemplating pregnancy and may need
information about risks and options for prenatal genetic testing.
(3) A person may have tested positive for a genetic disease or risk factor and may
need help with interpretation.
(4) A person or couple may have a child with a genetic disease, or may be
caregivers for a person with a genetic disease, and require counseling on treatment
options and management of the disease.
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(5) A married couple may be closely related (e.g., first cousins) and may need
advice about pedigree analysis and genetic testing options.
(6) A couple has difficulty achieving pregnancy or carrying a pregnancy to term.
(7) A person has been exposed to mutagens or chemicals that cause a higher risk of
birth defects.
(8) A couple contemplating starting a family may both be carriers of a recessive
genetic condition.
(9) A couple needs advice on interpretation of results of a prenatal test.
(10) A couple may have a child with a genetic disease and need information on their
risk of having additional children with that particular condition.

11. Briefly define newborn screening, heterozygote screening, presymptomatic testing,

and prenatal diagnosis.

Solution:
Newborn screening: Newborn infants are tested for various treatable genetic
disorders by sampling a few drops of their blood soon after birth.

Heterozygote screening: Normal or asymptomatic individuals in a population or

community are tested for recessive disease alleles to determine the frequency of the
disease allele in the population and to identify carriers, particularly if there is a
relatively high incidence of the disease in the population or community.

Presymptomatic testing: People known to be at higher risk for a disease that occurs
later in life are tested before symptoms appear.

Prenatal diagnosis: Results from prenatal testing for any of a number of genetic
conditions. Techniques, such as amniocentesis or chorionic villus sampling, are
used to obtain tissue samples of the still developing fetus, or fetal protein or cells in
the maternal circulation are characterized.

*12. Compare the advantages and disadvantages of amniocentesis versus chorionic villus
sampling for prenatal diagnosis.

Solution:
Amniocentesis samples the amniotic fluid by inserting a needle into the amniotic
sac, usually performed at about 16 weeks of pregnancy, and requires culturing the
fetal cells. Chorionic villus sampling can be performed several weeks earlier (10th
or 11th week of pregnancy) and samples a small piece of the chorion by inserting a
catheter through the vagina. Amniocentesis is relatively safe, but results are not
available until week 17 or 18 of pregnancy. Chorionic villus sampling has a slightly
higher risk of complication, including fetal injury, but results are available several
weeks earlier.

13. What is preimplantation genetic diagnosis?

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Solution:
Preimplantation genetic diagnosis may be performed on embryos created through in
vitro fertilization. The embryos are cultured until they reach the 8- tο 16-cell stage,
and one cell is removed from each embryo for genetic testing.

14. How does heterozygote screening differ from presymptomatic genetic testing?

Solution:
Both involve testing healthy individuals, but heterozygote screening refers to testing
randomly selected individuals in populations to determine carrier frequency for
recessive genetic disorders. Presymptomatic genetic testing refers to testing
apparently healthy relatives of affected individuals, to determine whether they have
inherited a disease allele for diseases that manifest symptoms later in life.

*15. What are direct-to-consumer genetic tests? What are some of the concerns about
these tests?

Solution:
These are genetic tests ordered by lay individuals without requiring consent or an
order from a medical professional. They may test for genetic conditions or
predispositions, paternity or ancestry. There are concerns that the tests may not be
accurate, or that the individual ordering the test may not be equipped to properly
interpret or understand the information a genetic test provides. There is also a
concern about privacy or confidentiality of the individual ordering the test.

*16. What activities does the Genetic Information Nondiscrimination Act prohibit?

Solution:
This act prohibits discrimination by employers or health insurance companies based
on information obtained by genetic testing, and forbids these organizations from
requiring an individual to undergo genetic testing for employment or health
insurance.

17. How might genetic testing lead to genetic discrimination?

Solution:
Individuals might be denied health insurance, disability insurance, or life insurance
based on information obtained in a genetic test, or alternatively, this information
might be used to exclude preexisting genetic conditions or set higher insurance rates
for the individual. Likewise, an employer might not hire someone who is likely to
develop a debilitating condition based on a genetic test.
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APPLICATION QUESTIONS AND PROBLEMS

Section 6.1

*18. If humans have characteristics that make them unsuitable for genetic analysis, such
as long generation time, small family size, and uncontrolled crosses, why do
geneticists study humans? Give several reasons why humans have been the focus of
so much genetic study.

Solution:
Study of human genetics is necessary to understand and overcome human genetic
diseases. Because of the long life span, relatively large body size, and uniquely
human lifestyle and behaviors, animal models are nonexistent or insufficient for
many genetic disorders. The careful preservation of marriage, birth, death, and
health records in many societies provide a wealth of data for genetic analysis. The
completion of the human genome project now facilitates mapping and identifying
human genes. We humans have a strong sense of identity and worth as individuals,
and wish to understand how an individual’s genetic profile contributes to our health,
our behavior, our abilities and disabilities, and our individual future prospects. The
study of human genetics can also reveal historical origins and anthropologic
relationships of individuals and populations.

Section 6.2

*19. Joe is color blind. Both his mother and father have normal vision, but his mother’s
father (Joe’s maternal grandfather) is color blind. All Joe’s other grandparents have
normal color vision. Joe has three sisters—Patty, Betsy, and Lora—all with normal
color vision. Joe’s oldest sister, Patty, is married to a man with normal color vision;
they have two children, a 9-year-old color-blind boy and a 4-year-old girl with
normal color vision.

a. Using standard symbols and labels, draw a pedigree of Joe’s family.

Solution:

Patty Betsy Joe Lora

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b. What is the most likely mode of inheritance for color blindness in Joe’s family?

Solution:
X-linked recessive. Only males have the trait, and they inherit the trait from
their mothers, who are carriers. It cannot be a Y-linked trait because none of the
affected males inherited the trait from their fathers. It is unlikely to be an
autosomal recessive trait because we would not expect two unrelated males
marrying into the pedigree (Joe’s father and Patty’s husband) to be both carriers
for a relatively rare trait.

c. If Joe marries a woman who has no family history of color blindness, what is
the probability that their first child will be a color-blind boy?

Solution:
Barring a new mutation or nondisjunction, zero. Joe cannot pass his color-blind
X chromosome to his son.

d. If Joe marries a woman who is a carrier of the color-blind allele, what is the
probability that their first child will be a color-blind boy?

Solution:
The probability is ¼. There is ½ probability that their first child inherit Joe’s Y
chromosome and be a boy, and there is an independent ½ probability that the
first child will inherit the color-blind X chromosome from the carrier mother.
½(½) = ¼.

e. If Patty and her husband have another child, what is the probability that the
child will be a color-blind boy?

Solution:
Again, ¼. Patty is a carrier because she had a color-blind son. The same
reasoning applies as in part d. Each child is an independent event.

20. Consider the pedigree shown in Figure 6.3.

a. If individual IV-7 married a person who was unaffected with Waardenburg

syndrome, what is the probability that their first child would have Waardenburg
syndrome? Explain your reasoning.

Solution:
The probability is ½. Waardenburg syndrome is caused by an autosomal
dominant gene. The mother of individual IV-7 is unaffected and therefore
homozygous for the normal allele (ww). The father of IV-7 has Waardenberg
syndrome and must be heterozygous (Ww) because his mother (II-5) is
unaffected. Individual IV-7 is therefore heterozygous (Ww). A cross between a
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homozygote and a heterozygote produces half unaffected homozygotes and half

affected heterozygotes (ww × Ww  ½ Ww + ½ ww).

b. If individuals IV-4 and IV-5 mated and produced a child, what is the probability
that the child would have Waardenburg syndrome? Explain your reasoning.

Solution:
Zero. Because Waardenberg syndrome is an autosomal dominant trait and
neither IV-4 or IV-5 have Waardenberg syndrome, the offspring could not
inherit an allele for the disease from either parent.

21. Many studies have suggested a strong genetic predisposition to migraine headaches,
but the mode of inheritance is not clear. L. Russo and colleagues examined
migraine headaches in several families, two of which are shown below (L. Russo et
al. 2005. American Journal of Human Genetics, 76:327–333). What is the most
likely mode of inheritance for migraine headaches in these families? Explain your
reasoning.

Solution:
In both families, the trait is most likely dominant because it does not skip
generations, and affected individuals have one affected parent. In Family 2, it is not
X-linked because the affected male II-8 has an unaffected daughter. For X-linked
loci, an affected male would transmit the trait to all his daughters. It could be either
X-linked or autosomal in Family 1.

*22. Dent disease is a rare disorder of the kidney, in which reabsorption of filtered
solutes is impaired and there is progressive renal failure. R. R. Hoopes and
colleagues studied mutations associated with Dent disease in the following family
(R. R. Hoopes et al. 2005. American Journal of Human Genetics, 76:260–267).
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a. On the basis of this pedigree, what is the most likely mode of inheritance for
the disease? Explain your reasoning.

Solution:
Only males have the disease, it skips generations, and unaffected female carriers
have both affected and affected sons. These observations are consistent with a
recessive X-linked trait. Y-linked traits are transmitted directly from father to
son, and do not skip generations.

b. From your answer to part a, give the most likely genotypes for all persons in the
pedigree.

Solution:
We will use X+ to denote the normal X allele and Xd to denote the Dent allele.
I: 1 – X+Y; 2 – X+Xd
II: 1 and 5 are XdY, 7 and 8 are X+Xd, and the rest do not have the disease
allele.
III: 2 and 3 are carriers X+Xd, 4–7 are XdY, and the rest do not have the
disease allele.
IV: 2 is XdY, 1 is X+Y

23. A man with a specific unusual genetic trait marries an unaffected woman and
they have four children. Pedigrees of this family are shown in parts a through
e, but the presence or absence of the trait in the children is not indicated. For
each type of inheritance, indicate how many children of each sex are expected
to express the trait by filling in the appropriate circles and squares. Assume that
the trait is rare and fully penetrant.

a. Autosomal recessive trait

Solution:
None
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b. Autosomal dominant trait

Solution:
½ of each sex

c. X-linked recessive trait

Solution:
None

d. X-linked dominant trait

Solution:
All the female children

e. Y-linked trait

Solution:
All the male children

*24. For each of the following pedigrees, give the most likely mode of inheritance,
assuming that the trait is rare. Carefully explain your reasoning.

a.
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Solution:
Autosomal dominant. The trait must be autosomal because affected males pass on
the trait to both sons and daughters. It is dominant because it does not skip
generations, all affected individuals have affected parents, and it is extremely
unlikely that multiple unrelated individuals mating into the pedigree would be
carriers for a rare trait.

b.

Solution:
X-linked dominant. Superficially this pedigree appears similar to the pedigree in part
(a.) in that both males and females are affected, and it appears to be a dominant trait.
However, closer inspection reveals that, whereas affected females can pass on the
trait to either sons or daughters, affected males pass on the trait only to all daughters.

c.
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Solution:
Y-linked. The trait affects only males and is passed from father to son. All sons of an
affected male are affected.

d.

Solution:
X-linked recessive or sex-limited autosomal dominant. Because only males show the
trait, the trait could be X-linked recessive, Y-linked, or sex-limited. We can
eliminate Y-linkage because affected males do not pass on the trait to their sons. X-
linked recessive inheritance is consistent with the pattern of unaffected female
carriers producing both affected and unaffected sons and affected males producing
unaffected female carriers but no affected sons. Sex-limited autosomal dominant
inheritance is also consistent with unaffected heterozygous females producing
affected heterozygous sons, unaffected homozygous recessive sons, and unaffected
heterozygous or homozygous recessive daughters. The two remaining possibilities of
X-linked recessive versus sex-limited autosomal dominant could be distinguished if
we had enough data to determine whether affected males could have both affected
and unaffected sons, as expected from autosomal dominant inheritance, or whether
affected males can have only unaffected sons, as expected from X-linked recessive
inheritance. Unfortunately, this pedigree shows only two sons from affected males.
In both cases, the sons are unaffected, consistent with X-linked recessive inheritance,
but two instances are not enough to conclude that affected males cannot produce
affected sons.

e.
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Solution:
Autosomal recessive. Unaffected parents produced affected progeny, so the trait is
recessive. The affected daughter must have inherited recessive alleles from both her
unaffected parents, so it must be autosomal. If it were X-linked, her father would
have shown the trait.

25. The trait represented in the following pedigree is expressed only in the males of the
family. Is the trait Y-linked? Why or why not? If you believe that the trait is not Y-
linked, propose an alternate explanation for its inheritance.

Solution:
No, it is not Y-linked. Individual I-1 passed the trait on to one son, but not to a
second son, although he must have passed on his Y-chromosome to both of them.
Furthermore, individual II-5 passes the trait to her two sons, so she must be a
carrier. The pedigree is more consistent with autosomal dominant inheritance with
either incomplete penetrance in individual II-5, or an autosomal dominant, sex-
limited trait. If the trait is common, it could also be an autosomal recessive trait. If
the trait is rare, an autosomal recessive mode of inheritance is unlikely because it
would require that four unrelated individuals, I-2, II-1, II-6, and III-8 all be carriers
of a rare trait.

26. The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare
genetic condition in which affected persons have cataracts and abnormally shaped
teeth.
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I
1 2

II
1 2 3 4

III
1 2 3 4 5 6 7 8

IV
1 2 3 4 5 6 7

V
1 2 3 4
[Pedigree adapted from D. Stambolian, R. A. Lewis, K. Buetow, A. Bond, and R. Nussbaum. 1990. American Journal of
Human Genetics 47:15.]

a. On the basis of this pedigree, what do you think is the most likely mode of
inheritance for Nance–Horan syndrome?

Solution:
X-linked recessive. Only males have the condition, and unaffected female
carriers have affected sons.

b. If couple III-7 and III-8 have another child, what is the probability that the child
will have Nance–Horan syndrome?

Solution:
The probability is ¼. The female III-7 is a carrier, so there is a ½ probability
that the child will inherit her X chromosome with the Nance–Horan allele and
another ½ probability that the child will be a boy.

c. If III-2 and III-7 were to mate, what is the probability that one of their children
would have Nance–Horan syndrome?

Solution:
The probability is ½ because half the boys will inherit the Nance–Horan
allele from the III-7 carrier female. All the girls will inherit one Nance–Horan
allele from the III-2 affected male, and half of them will get a second Nance–
Horan allele from the III-2 female, so half the girls will also have Nance–Horan
syndrome.

27. The following pedigree illustrates the inheritance of ringed hair, a condition in
which each hair is differentiated into light and dark zones. What mode or modes of
inheritance are possible for the ringed-hair trait in this family?
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[Pedigree adapted from L. M. Ashley and R. S. Jacques. 1950. Journal of Heredity 41:83.]

Solution:
This pedigree is consistent with autosomal dominant inheritance. Affected
individuals marrying unaffected individuals have affected children, so the trait is
dominant. Males do not pass the trait to all their daughters, so it cannot be X-linked
dominant.

28. Ectodactyly is a rare condition in which the fingers are absent and the hand is split.
This condition is usually inherited as an autosomal dominant trait. Ademar Freire-
Maia reported the appearance of ectodactyly in a family in São Paulo, Brazil, whose
pedigree is shown here. Is this pedigree consistent with autosomal dominant
inheritance? If not, what mode of inheritance is most likely? Explain your
reasoning.
I 1 2 3 4

II
1 2 3 4

2 3
III
1 4

IV
2 3 4 5 6 7 8
1
[Pedigree adapted from A.Freire-Maia. 1971. Journal of Heredity 62:53.]

Solution:
This pedigree shows autosomal recessive inheritance, not autosomal dominant
inheritance. It cannot be dominant because unaffected individuals have affected
children. In generation II, two brothers married two sisters, so the members of
generation III in the two families are as closely related as full siblings. A single
recessive allele in one of the members of generation I was inherited by all four
members of generation III. The consanguineous matings in generation III then
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produced children homozygous for the recessive ectodactyly allele. X-linkage is

ruled out because the father of female IV-2 is unaffected; he has to be heterozygous.

29. The complete absence of one or more teeth (tooth agenesis) is a common trait in
humans—indeed, more than 20% of humans lack one or more of their third molars.
However, more severe absence of teeth, defined as missing six or more teeth, is less
common and frequently an inherited condition. L. Lammi and colleagues examined
tooth agenesis in the Finnish family shown in the pedigree below (L. Lammi. 2004.
American Journal of Human Genetics 74:1043–1050).

[Pedigree adapted from L. Lammi. 2004. American Journal of Human Genetics 74:1043-1050.]

a. What is the most likely mode of inheritance for tooth agenesis in this family?
Explain your reasoning.

Solution:
Both males and females have the trait, and affected males and females transmit
to either sons or daughters. The trait is most likely autosomal dominant.

b. Are the two sets of twins in this family monozygotic or dizygotic twins? What
is the basis of your answer?

Solution:
They are dizygotic because they differ in either genotype (the first set of twin
boys) or gender (the boy and girl).

c. If IV-2 married a man who has a full set of teeth, what is the probability that
their child would have tooth agenesis?

Solution:
People with full teeth are homozygous for the recessive allele for full teeth, and
IV-2 must be heterozygous. Therefore, the probability of a child with tooth
agenesis is 50%.

d. If III-2 and III-7 married and had a child, what is the probability that their child
would have tooth agenesis?
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Solution:
They are both heterozygotes, so the probability would be ¾ for a child to
have the dominant tooth agenesis phenotype, assuming that homozygotes for
tooth agenesis are viable.

Section 6.3

*30. A geneticist studies a series of characteristics in monozygotic twins and dizygotic

twins, obtaining the concordances listed below. For each characteristic, indicate
whether the rates of concordance suggest genetic influences, environmental
influences, or both. Explain your reasoning.

Concordance (%)
Characteristic Monozygotic Dizygotic
Migraine headaches 60 30
Eye color 100 40
Measles 90 90
Clubfoot 30 10
High blood pressure 70 40
Handedness 70 70
Tuberculosis 5 5

Solution:
Migraine headaches appear to be influenced by genetic and environmental factors.
Markedly greater concordance in monozygotic twins, who share 100% genetic
identity, than in dizygotic twins, who share 50% genetic identity, is indicative of a
genetic influence. However, the fact that monozygotic twins show only 60%
concordance despite sharing 100% genetic identity indicates that environmental
factors also play a role.

Eye color appears to be purely genetically determined because the concordance is

greater in monozygotic twins than in dizygotic twins. Moreover, the monozygotic
twins have 100% concordance for this trait, indicating that environment has no
detectable influence.

Measles appears to have no detectable genetic influence because there is no

difference in concordance between monozygotic and dizygotic twins. Some
environmental influence can be detected because monozygotic twins show less than
100% concordance.

Clubfoot appears to have genetic and environmental influences, by the same

reasoning as for migraine headaches. A strong environmental influence is indicated
by the high discordance in monozygotic twins.

High blood pressure has genetic and environmental influences, similar to clubfoot.
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Handedness, like measles, appears to have no genetic influence because the

concordance is the same in monozygotic and dizygotic twins. Environmental
influence is indicated by the less than 100% concordance in monozygotic twins.

Tuberculosis similarly lacks indication of genetic influence, with the same degree
of concordance in monozygotic and dizygotic twins. The primacy of environmental
influence is indicated by the very low concordance in monozygotic twins.

31. On the basis of the concordance rates shown in Table 6.2, is variation in
rheumatoid arthritis influenced by genetic factors, environmental factors, or both?
Explain your reasoning.

Solution:
Both. The concordance of monozygotic twins is considerably higher than that of
dizygotic twins, which suggests that genes influence variation in the trait. The fact
that concordance of the monozygotic twins is less 100% suggests that
environmental factors also play a role.

32. M. T. Tsuang and colleagues studied drug dependence in male twin pairs (M. T.
Tsuang et al. 1996. American Journal of Medical Genetics 67:473–477). They
found that 82 out of 313 monozygotic twins were concordant for abuse of one or
more illicit drugs, whereas 40 out of 243 dizygotic twins were concordant for the
same trait. Calculate the concordance rates for drug abuse in these monozygotic and
dizygotic twins. On the basis of these data, what conclusion can you make
concerning the roles of genetic and environmental factors in opioid dependence?

Solution:
The concordance rate for monozygotic twins is 82/313 or 26%. For dizygotic twins,
the concordance rate is 40/243 or 16%. Since the monozygotic twins have a higher
concordance rate than dizygotic twins, these data do suggest a genetic influence.
The low concordance (less than 50%) in monozygotic twins indicates that the
environment also exerts a significant influence.

*33. In a study of schizophrenia (a mental disorder including disorganization of thought

and withdrawal from reality), researchers looked at the prevalence of the disorder in
the biological and adoptive parents of people who were adopted as children; they
found the following results:

Prevalence of schizophrenia

Adopted persons Biological parents Adoptive parents

With schizophrenia 12 2
Without schizophrenia 6 4

[Source: S. S. Kety et al. 1978. in The Nature of Schizophrenia: New Approaches to Research and Treatment, L. C. Wynne,
R. L. Cromwell, and S. Matthysse, Eds. New York: Wiley, 1978, pp.25–37.]
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What can you conclude from these results concerning the role of genetics in
schizophrenia? Explain your reasoning.

Solution:
These data suggest that schizophrenia has a strong genetic component. The
biological parents of schizophrenic adoptees are far more likely to be schizophrenic
than genetically unrelated individuals (the adoptive parents), despite the fact that
the schizophrenic adoptees share the same environment as the adoptive parents. If
environmental variables (such as chemicals in the water or food or power lines)
were a major factor, then one would expect to see a higher frequency of
schizophrenia in the adoptive parents. Another possibility is that this increased
frequency of schizophrenia in the biological parents simply reflects a greater
likelihood that schizophrenic parents give up their children for adoption. This latter
possibility is ruled out by the data that the biological parents of nonschizophrenic
adoptees do not show a similar increased frequency of schizophrenia compared to
adoptive parents.

34. Which conclusions are supported by Figure 6.13?

a. Adoptive fathers of obese adoptees have a higher BMI than adoptive
fathers of thin adoptees.
b. Adoptive mothers of thin adoptees have lower BMI than adoptive mothers
of obese adoptees.
c. Biological fathers of obese adoptees have higher BMI than adoptive
fathers of thin adoptees.
d. Both a and b.
e. Both a and c.

Solution:
c. Biological fathers of obese adoptees have higher BMI than adoptive fathers of
thin adoptees.

Section 6.4

35. What, if any, ethical issues might arise from the widespread use of noninvasive
prenatal genetic diagnosis, which can be carried out much earlier than
amniocentesis or chorionic villus sampling?

Solution:
An issue that is common to all prenatal testing, but may be exacerbated by this new
procedure, is the question of what genetic conditions should be tested. Because of
the early diagnosis, mothers will have the ability to terminate the pregnancy during
the first trimester, with less risk and fewer complications than at more advanced
stages. To what extent should regulations determine what types of tests are offered,
fearing that some mothers or couples may make decisions based on such factors as
the sex of the fetus or other conditions that do not have serious health
consequences?
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and Genetic Testing
and Genetic Testing 142

CHALLENGE QUESTIONS

Section 6.1

36. Many genetic studies, particularly those of recessive traits, have focused on small
isolated human populations, such as those on islands. Suggest one or more
advantages that isolated populations might have for the study of recessive traits.

Solution:
Isolated populations become inbred, so recessive phenotypes arise more frequently.
Some recessive traits that are rare in other, large human populations may be more
frequent in isolated populations, facilitating pedigree analysis.

Section 6.2

37. Draw a pedigree that represents an autosomal dominant trait, sex-limited to males,
and that excludes the possibility that the trait is Y-linked.

Solution:

This pedigree excludes Y-linkage because not all the sons of an affected male are
affected, an unaffected male has affected sons, and also because it is transmitted
through an unaffected female to her sons.

38. A. C. Stevenson and E. A. Cheeseman studied deafness in a family in Northern

Ireland and recorded the following pedigree (A. C. Stevenson and E. A.
Cheeseman. 1956. Annals of Human Genetics 20:177–231).
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and Genetic Testing
and Genetic Testing 143

[Pedigree adapted from A. C. Stevenson and E. A. Cheeseman. 1956. Annals of Human Genetics 20:177-231.]

a. If you consider only generations I through III, what is the most likely mode of
inheritance for this type of deafness?

Solution:
Autosomal recessive. Affected children of both sexes arise from unaffected
parents. Affected parents, being homozygous recessive, have all affected
children.

b. Provide a possible explanation for the cross between III-7 and III-9 and the
results for generations IV through V.

Solution:
One possible explanation is that this deafness may be caused by recessive alleles
at two different loci. If we use A and a for the alleles at one locus and B and b
for the alleles at the second locus, III-7 could be aa BB and III-9 could be AA
bb. All their children (generation IV) would then be Aa Bb, and have normal
hearing, having dominant alleles at both loci. Generation V are children of
marriages with spouses from outside the pedigree, presumably being
homozygous dominant for one or both loci.

A second possibility is allelic complementation: Two different recessive alleles

at the same locus interact in such a way as to produce the dominant phenotype.

Section 6.3

39. Dizygotic twinning often runs in families and its frequency varies among ethnic
groups, whereas monozygotic twinning rarely runs in families and its frequency is
quite constant among ethnic groups. These observations have been interpreted as
evidence for a genetic basis for variation in dizygotic twinning but for little genetic
basis for variation in monozygotic twinning. Can you suggest a possible reason for
these differences in the genetic tendencies of dizygotic and monozygotic twinning?

Solution:
The tendency for women to ovulate multiple eggs could be influenced by the
mother’s genotype. A woman’s genotype would determine such factors as hormonal
levels important for ovulation. In contrast, the tendency for a fertilized zygote to
split into two embryos may be an entirely random event not dependent on the
genetic composition of either the embryo or the mother.