Test Bank for Genetics A Conceptual Approach 5th Edition Benjamin A Pierce Download

Test Bank for Genetics A Conceptual Approach 5th

Edition Benjamin A Pierce Download

To download the complete and accurate content document, go to:

https://testbankbell.com/download/test-bank-for-genetics-a-conceptual-approach-5th-
edition-benjamin-a-pierce-download/

Visit TestBankBell.com to get complete for all chapters

Test Bank for
Chapter 6: Pedigree Analysis, Applications, and Genetic Testing
Multiple-Choice Questions

1. Two parents are phenotypically normal, but one of their four biological children has a typical
autosomal recessive trait. The other three children are phenotypically normal. It is very likely
that

a. the affected child is a girl.

b. the affected child is a boy.
c. the trait was expressed by one of the grandparents of the children.
d. the parents are both heterozygous for the trait.
e. if the affected child eventually marries a phenotypically normal spouse, all of the their
children will have the trait.

Answer: d
Section 6.2
Comprehension Question

2. Which of the following descriptions of a Y-linked trait in humans is correct?

a. All the sons of an affected father will be affected with the trait.
b. Half the sons of a mother whose father was affected with the trait will be affected.
c. Half the sons of an affected father will not be affected with the trait and the other half
will be infertile.
d. All the daughters of an affected father will be phenotypically normal themselves but half
of their own sons will be affected with the trait.
e. The parents of an affected man likely were both phenotypically normal.

Answer: a
Section 6.2
Comprehension Question

3. Which of the following statements is incorrect concerning an X-linked recessive trait in

humans?

a. An affected man often has phenotypically normal parents.

b. All the sons of an affected woman will be expected to be affected.
c. An affected woman almost always has an affected mother.
d. An affected man usually has a mother who carries the recessive allele.
e. A phenotypically normal woman whose father was affected is likely to be heterozygous
for the condition.

Answer: c
Section 6.2
 Comprehension Question

4. In pedigree analysis, consanguinity refers to

a. mating between two heterozygous carrier parents.

b. the realization that phenotypes between children and grandparents being often more
closely related than between children and parents.
c. mating between two closely related parents.
d. a situation where the children of two parents are adopted.
e. a situation where only one individual in the entire pedigree is affected with the trait or
disorder.

Answer: c
Section 6.2
Comprehension Question

5. In pedigree analysis, the proband is

a. the individual having the trait or disorder from whom the pedigree is initiated.
b. the medical geneticist who analyzes the pedigree to find the mode of inheritance for the
disorder.
c. the parents of the first child in the family to show the trait or disorder.
d. one of the grandparents or great grandparents who are in the first generation of the
pedigree.
e. the most common software package that geneticists use to analyze pedigrees.

Answer: a
Section 6.2
Comprehension Question

6. Which term refers to mating between closely related people?

a. Consanguinity
b. Probanding
c. Congenital
d. Concordance
e. Discordance

Answer: a
Section 6.2
Comprehension Question

7. Which of the following is not a typical characteristic of human traits that follow an
autosomal recessive inheritance pattern?

a. They often “skip” generations.

 b. They appear equally in males and females.
c. Parents of affected children are often phenotypically normal themselves.
d. When affected individuals marry phenotypically normal individuals, their children are
often phenotypically normal.
e. All of the above are characteristic of autosomal recessive inheritance.

Answer: e
Section 6.2
Comprehension Question

8. Which of the following is not a characteristic of X-linked recessive traits in humans?

a. More males than females affected.

b. Approximately one-half of the sons of a female carrier are affected.
c. They cannot be passed from father to son.
d. Phenotypically normal daughters of affected men are always carriers.
e. Affected daughters always have an affected mother.

Answer: e
Section 6.2
Comprehension Question

9. Most pedigrees showing the hypothetical human trait show the following characteristics:

• Males and females are equally affected.

• Two unaffected parents can have an affected child.
• In families in which the parents are unaffected but the children are affected, 1/4 of the
children are affected.

What is the most likely mode of inheritance for this disorder?

a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
e. Y-linked

Answer: a
Section 6.2
Comprehension Question

10. Most pedigrees showing the hypothetical human trait show the following characteristics:

• If a phenotypically normal woman with an affected father has children with an unaffected
man, half of the sons and none of the daughters are affected.
• Affected females always have an affected father and an affected maternal grandfather.
 • The trait is never passed from father to son.

What is the most likely mode of inheritance for this disorder?

a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
e. Y-linked

Answer: a
Section 6.2
Comprehension Question

11. Most pedigrees showing the hypothetical human trait show the following characteristics:

• Only males are affected.

• Affected fathers always pass the trait to sons.

What is the most likely mode of inheritance for this disorder?

a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
e. Y-linked

Answer: e
Section 6.2
Comprehension Question

12. Most pedigrees showing the hypothetical human trait show the following characteristics:

• Females are affected twice as frequently as males.

• Affected fathers may have affected daughters but never affected sons.
• Half the children of affected mothers and normal fathers are affected.

What is the most likely mode of inheritance for this disorder?

a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
e. Y-linked

Answer: d
 Section 6.2
Comprehension Question

13. The ability to roll the tongue is caused by a dominant allele. A woman is a “roller,” but one
of her parents is not. What is the woman’s genotype?

a. Homozygous dominant
b. Heterozygous
c. Homozygous recessive
d. Either homozygous recessive or homozygous dominant
e. Cannot be determined from this information

Answer: b
Section 6.2
Application Question

14. The ability to roll the tongue is caused by a dominant allele. A woman is a “roller,” but one
of her parents is not. The woman is expecting a child with a man who is a “nonroller.” What
is the probability that their first child will be a “roller”?

a. 1/4
b. 0
c. 3/4
d. 1/2
e. 1

Answer: d
Section 6.2
Application Question

15. Could the characteristic followed in the pedigree be caused by an autosomal dominant
disease? Why or why not?

I
1 2 3 4

II
1 2 3 4 5
III

a. Yes, all individuals fit the autosomal dominant inheritance pattern.

b. No, the offspring of I-1 and I-2 contradict an autosomal dominant inheritance.
c. No, the offspring of I-3 and I-4 contradict an autosomal dominant inheritance.
d. No, the offspring of II-3 and II-4 contradict an autosomal dominant inheritance.
 e. Yes, the offspring of I-1 and I-2 are consistent with an autosomal dominant inheritance
pattern.

Answer: b
Section 6.2
Application Question

16. If the pedigree is for an autosomal recessive characteristic, which individuals are definitely
heterozygous?

I
1 2 3 4

II
1 2 3 4 5
III

1
a. I-1, I-2, II-2, II-4, and II-5
b. I-1, I-2, I-4, III-1
c. I-1, I-2, II-4, II-5, III-1
d. II-2, II-4, II-5, II-3
e. II-2, II-4, II-5, III-1

Answer: c
Section 6.2
Application Question

17. Could the characteristics followed in the pedigree be caused by an X-linked recessive allele?

I
1 2 3 4

II
1 2 3 4 5
III

1
a. Yes, all individuals fit the X-linked recessive inheritance pattern.
b. No, the offspring of I-1 and I-2 contradict an X-linked recessive inheritance.
c. No, the offspring of I-3 and I-4 contradict an X-linked recessive inheritance.
d. No, the offspring of II-3 and II-4 contradict an X-linked recessive inheritance.
e. Possibly, but I-4 would have to be a heterozygous carrier if there is X-linked inheritance.

Answer: a
 Section 6.2
Application Question

18. If the characteristic followed in the pedigree is autosomal recessive, what is III-1’s genotype?

I
1 2 3 4

II
1 2 3 4 5
III

1
a. Either homozygous dominant or heterozygous
b. Definitely heterozygous
c. Definitely homozygous dominant
d. Must be homozygous recessive
e. Homozygous dominant since he is a male but a female would be heterozygous

Answer: b
Section 6.2
Application Question

19. If the characteristic followed in the pedigree is X-linked recessive allele, what is III-1’s
genotype?

I
1 2 3 4

II
1 2 3 4 5
III

a. Hemizygous for a dominant allele

b. Hemizygous for a recessive allele
c. Definitely heterozygous
d. Definitely homozygous dominant
e. Either heterozygous or homozygous dominant

Answer: a
Section 6.2
Application Question
20. What is/are the possible inheritance pattern(s) for the characteristic in Pedigree 1? Assume
no new mutations and complete penetrance.
I
I 1 2
1 2

II
II 1 2

Pedigree 1 Pedigree 2

I
1 2

II
1 2 3

III
Pedigree 3 1

a. Autosomal recessive only

b. Autosomal dominant only
c. X-linked recessive only
d. X-linked dominant only
e. All of the above are possible.

Answer: a
Section 6.2
Application Question

21. June has two brothers with Becker muscular dystrophy (BMD), a X-linked recessive
condition that allows affected males to survive into adulthood. Her parents are
phenotypically normal. She marries Sheldon who also has BMD. June and Sheldon have a
daughter. What is the probability that this daughter will have BMD?

a. Near 0
b. 1/4
c. 1/2
d. 3/4
e. 1/8
 Answer: b
Section 6.2
Application Question

22. What is/are the possible inheritance pattern(s) for the characteristic in Pedigree 2? Assume
no new mutations and complete penetrance.

I
I 1 2
1 2

II
II 1 2

Pedigree 1 Pedigree 2

I
1 2

II
1 2 3

III
Pedigree 3 1

a. Autosomal recessive only

b. Autosomal dominant only
c. X-linked recessive only
d. X-linked dominant only
e. All of the above are possible.
Answer: e
Section 6.2
Application Question

23. If the phenotype followed in Pedigree 3 is X-linked recessive, then what is the genotype of
II-2? Assume no new mutations and complete penetrance.
 I
I 1 2
1 2

II
II 1 2

Pedigree 1 Pedigree 2

I
1 2

II
1 2 3

III
Pedigree 3 1

a. Homozygous dominant
b. Heterozygous
c. Homozygous recessive
d. Hemizygous dominant
e. Hemizygous recessive

Answer: b
Section 6.2
Application Question

24. If the phenotype followed in Pedigree 3 is autosomal recessive, then what is the genotype of
I-1? Assume no new mutations and complete penetrance.
 I
I 1 2
1 2

II
II 1 2

Pedigree 1 Pedigree 2

I
1 2

II
1 2 3

III
Pedigree 3 1

a. Homozygous dominant
b. Heterozygous
c. Homozygous recessive
d. Hemizygous dominant
e. Hemizygous recessive

Answer: b
Section 6.2
Application Question

25. Assuming that it is not a Y-linked trait, suggest the most likely mode of inheritance for the
rare trait shown in the pedigree below.

a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
 e. Mitochondrial
Answer: b
Section 6.2
Application Question

26. Which of the following is not normally used to study the inheritance of human traits or
disorders?

a. Pedigree analysis
b. Twin studies
c. Adoption studies
d. All of the above are used in the study of human traits or disorders.
e. None of the above is used in the study of human traits or disorders.

Answer: d
Section 6.3
Comprehension Question

27. If in one study with both monozygotic and dizygotic twins, the concordance value for a
neurological disorder was 100% for monozygotic twins. Which of the following statements
is correct?

a. The concordance value for dizygotic twins will be also 100%.

b. There will be no phenotypic variation in susceptibility for the disorder for all the pairs of
twins in the study.
c. The concordance value for dizygotic twins will be 25%.
d. For dizygotic twins, all the variation in susceptibility for the disorder will be due to
environmental factors.
e. All the variation in susceptibility for the disorder for monozygotic twins is due to genetic
factors.

Answer: e
Section 6.3
Comprehension Question

28. Imagine that a human characteristic is determined by genotype only, with no environmental
influence. Based on the amount of shared genetic information in MZ (monozygotic) and DZ
(dizygotic) twins, what would you expect the concordance values to be in these two sets of
twins?

a. The concordance values would be near 100% for both types of twins.
b. The concordance values would be near 50% for both types of twins.
c. The concordance values should be close to 100% for MZ twins and about 50% for DZ
twins.
d. The concordance values should be close to 50% for MZ twins and about 25% for DZ
twins.
 e. The concordance values should be close to 25% for MZ twins and about 75% for DZ
twins.

Answer: c
Section 6.3
Application Question

29. Lucy is 16 weeks pregnant and undergoes maternal serum screening to measure her maternal
alpha fetoprotein levels (AFP). Her AFP level is several times higher that normal levels. For
which of the following disorders should Lucy be offered additional testing?

a. Trisomy 21, a chromosome abnormality

b. Sickle-cell disease, an autosomal recessive disorder
c. Spina bifida, a neural tube defect
d. Hemophila A, a sex-linked recessive disorder
e. Lucy does not need additional testing for any disorder.

Answer: c
Section 6.3
Application Question

30. Look at the data below and explain what they say about the genetic and environmental
influence on each characteristic. How did you interpret these data? (MZ = monozygotic
twins and DZ = dizygotic twins.)

Concordance in
Trait MZ DZ
Right- or left-handedness 80 75
Manic depression 80 20

a. Handedness and manic depression both have a strong genetic basis and little or no
environmental basis.
b. Handedness and manic depression are both strongly affected by environmental factors
with little or no genetic basis.
c. Handedness and manic depression are strongly affected by both environmental factors
and genetic factors.
d. Handedness is strongly affected by environmental factors with little or no genetic basis,
while manic depression is significantly affected by genetic factors.
e. Handedness is significantly affected by both environmental and genetic factors, while
manic depression is significantly affected by environmental factors with little genetic
basis.

Answer: d
Section 6.3
Application Question
31. Below are concordance rates for five different human disorders studied in monozygotic (MZ)
and dizygotic (DZ) twins.
_____________________________________
Concordance
Disorder MZ DZ
______________________________________
A 100% 50%
B 17% 16%
C 56% 11%
D 100% 25%
E 50% 100%
________________________________________

One of the above disorders is in part caused by significant genetic effects. In addition to a
significant genetic contribution toward the disorder, there are also significant environmental
effects that contribute toward the disorder phenotype. Which of the above disorders would
this description most likely apply to?

a. A
b. B
c. C
d. D
e. E

Answer: c
Section 6.3
Application Question

32. In an effort to identify the influence of genetic factors on both Type 1 diabetes and Type II
diabetes, researchers calculated concordance rates for monozygotic twins. Concordance rates
of 30–50% have been found for Type I diabetes with concordance rates of 80% for Type II.
For both kinds of diabetes, dizygotic concordance rates were about 15%. What does this
information suggest concerning the relative effect of genetic and environmental factors for
each type of diabetes?

a. Genetic factors have little or no role in the occurrence of Type I diabetes.

b. Type II diabetes is primarily determined by non-genetic factors.
c. Genetic influences exert a larger role in Type II diabetes than in Type I diabetes.
d. Type II diabetes appears to be caused by a single, unidentified gene.
e. Environmental factors have no role in the occurrence of either type of diabetes.

Answer: c
Section 6.3
Application Question
33. Several members of a family have a very rare form of hearing disorder. You construct the
following pedigree. The most likely mode of inheritance is

a. autosomal dominant since the trait does not skip generations.

b. X-linked dominant since an affected woman can have both affected sons and affected
daughters.
c. autosomal recessive, where all the unaffected individuals are heterozygous for the
condition.
d. mitochondrial since affected females pass the condition on to all their children and
affected males do not.
e. The mode of inheritance in the above pedigree does not fit any of the previous mentioned
modes in inheritance.

Answer: d
Section 6.3
Application Question

34. Which of the following is not correctly identified as an advantage is using amniocentesis?

a. It can be used to detect chromosome abnormalities prenatally in the fetus.

b. In some cases, it can be used to obtain fetal DNA so that tests can be done to determine if
the fetus may have a particular genetic disorder.
c. It can normally be done as early as the sixth week of pregnancy.
d. It can be used to determine if the fetus may have a neural-tube defect.
e. All of the above are advantage with the use of amniocentesis.

Answer: c
Section 6.4
Comprehension Question

35. Heterozygous genetic screening is used mainly to

a. detect genetic disorders among newborn infants.

b. detect adult members of a particular population who may be heterozygous carriers for
recessive disorders.
 c. detect in healthy adults the presence of a mutant allele that may predispose them to some
serious health problem later in life.
d. detect fetuses who may be heterozygous carriers for recessive disorders and may
eventually be at risk of having children of their own with these disorders.
e. detect adults that may be heterozygous for serious autosomal dominant disorders.

Answer: b
Section 6.4
Comprehension Question

36. Which of the following statements is NOT correct concerning newborn screening?

a. It is normally done soon after the birth of a child.

b. It is particularly important to test for serious conditions where there is no treatment
available.
c. Most newborn testing is done by collecting a small amount of an infant’s blood and then
using it for analysis to detect specific genetic disorders.
d. The genetic disorder phenylketonuria is one of the conditions that is usually tested for
with newborn screening.
e. All of the above statements are true.

Answer: b
Section 6.4
Comprehension Question

37. Heterozygote screening normally involves

a. testing healthy individuals to see if they possess mutant alleles that may make them ill
later in life.
b. testing newborn infants to see if they have a genetic disorder so that they can be treated
immediately.
c. examining fetal cells to see if they have a serious genetic disorder so thst the pregnancy
can be terminated if the parents so desire.
d. testing to determine if two parents are related to each other.
e. testing adult members of a particular population to identify heterozygous carriers for a
recessive disorder.

Answer: e
Section 6.4
Comprehension Question

38. This is a form of prenatal testing that is most commonly performed between the 15th and
18th week of pregnancy.

a. Chorionic villus sampling

b. Preimplantation genetic analysis
 c. Amniocentesis
d. Heterozygote screening
e. Presymptomatic screening

Answer: c
Section 6.4
Comprehension Question

39. This is a form of prenatal testing that is most commonly performed between the 10th and
12th week of pregnancy and involves the insertion of a soft plastic into the vagina to obtain
cells.

a. Chorionic villus sampling

b. Preimplantation genetic analysis
c. Amniocentesis
d. Heterozygote screening
e. Presymptomatic screening

Answer: a
Section 6.4
Comprehension Question

40. Which of the following conditions is most commonly screened for in maternal blood tests?

a. Phenylketonuria and chromosome abnormalities

b. Tay-Sachs disease and neural-tube defects
c. Cancer and multiple sclerosis
d. Chromosome abnormalities and neural tube defects
e. None of the above is detected.

Answer: d
Section 6.4
Comprehension Question

41. Fetal cell sorting is a(n)

a. method of obtaining fetal cells through amniocentesis.

b. method of obtaining fetal cells through chorionic villus sampling.
c. procedure for detecting and separating fetal cells from maternal blood cells.
d. invasive procedure that allows a physician to directly take blood from the fetus to analyze
for genetic conditions.
e. method where a fetus who has a genetic condition can be treated before birth by
providing it with healthy fetal cells.

Answer: c
Section 6.4
 Comprehension Question

42. Preimplantation genetic testing involves

a. testing a newborn infant for a genetic disorder immediately after birth.

b. testing a single cell of an early embryo for a genetic disorder before the embryo is
considered for implanting into the mother’s uterus.
c. testing multiple sperm from a man who is heterozygous for a serious genetic disorder and
then using only sperm that have normal alleles for in vitro fertilizations.
d. removing cells from a fetus and then testing them for a genetic disorder and then
allowing abnormal fetuses to be aborted.
e. testing primary oocytes (eggs) for genetic disorders before using them in in vitro
fertilizations.

Answer: b
Section 6.4
Comprehension Question

43. To establish a successful and cost-effective screening program for detecting adult
heterozygous carriers of an autosomal recessive disease, all of the following are important for
establishing a successful program for a particular disorder except

a. detection of the disorder is possible in the fetus.

b. the disease is clinically significant.
c. a high-risk population can be identified .
d. genetic counseling is provided with the testing.
e. an effective treatment is available for the disorder.

Answer: e
Section 6.4
Application Question

44. Which of the following human genes shows signs of recent selection suggesting that it
provides some unique human characteristic?

a. DMD
b. FGFR3
c. FGFR2
d. FOXP2
e. XIST

Answer: d
Section 6.5
Comprehension Question
Short-Answer Questions

45. Tony, who is not diseased, has a sister with cystic fibrosis (CF). Neither of his parents have
CF. Tony is expecting a child with Tina. Tina’s family history is unknown. Draw a pedigree
that includes all of this information. Below each person in the pedigree, write his or her
genotype, or possible genotypes, using A for the normal CF allele and a for the disease-
causing recessive allele.

Answer:
Tony is II-2 and Tina is II-3.

I
Aa Aa

II
aa AA AA
or or
Aa Aa

III

Section 6.2
Application Question

46. Tony, who is not diseased, has a sister with cystic fibrosis (CF). Neither of his parents have
CF. Tony is expecting a child with Tina. Tina’s family history is unknown. What is the
probability that Tony is heterozygous for the CF gene? Explain your answer.

Answer: 2/3. Tony’s parents are Aa and Aa. Their children’s genotypes, with probabilities,
are: 1/4 AA; 1/4 Aa; 1/4 aA; 1/4 aa. Tony does not have CF, so he cannot be genotype aa.
Of the remaining genotypes, 2/3 are heterozygous.
Section 6.2
Application Question

47. Juliet and Bob have two children, Jack and Norma. No one in this family is red-green color
blind, although Juliet sometimes has difficulty passing the color-vision part of the driving
test. Norma has a color-blind son with Tom, who is not color blind. Draw a pedigree that
includes all of this information. Below each person in the pedigree, write their genotype for
the red-green color-blindness gene, using B for the normal allele and b for the color-
blindness allele.
 Answer:

B B b
X Y X X

B B b B
X Y X X X Y

b
X Y
Section 6.2
Application Question

48. Draw a four-generation pedigree, following color blindness, using the following information:
In generation I, neither parent is color blind. In generation II, a son (II-1) is color blind, a
daughter (II-2) is not. II-2 and a man with normal color vision (II-3) have a daughter (III-1)
who is not color blind. III-1 and a man with normal color vision (III-2) have a daughter (IV-
1) who is not color blind. Write in all the genotypes that are known. Use symbols Xc and Y to
follow the sex chromosomes and sex-linked genes.

Answer:
I C
X Y C c
1 2 X X

II
c C
X Y X Y
1 2 3
III
1 2 C
X Y
IV

Section 6.2
Application Question
49. Is it possible that the characteristic in the pedigree below could be X-linked recessive? If so,
what are the genotypes of each individual (use alleles A and a)? If not, explain why not,
giving specific genotypes.

I
1 2

II
1 2

Answer: X-linked recessive is possible, if I-1 is XaY; I-2 is XAXa; II-1 XAY; and II-2 is Xa Xa.
Section 6.2
Application Question

50. Is it possible that the characteristic in the pedigree below could be X-linked dominant? If so,
what are the genotypes of each individual (use alleles B and b)? If not, explain why not,
giving specific genotypes.

I
1 2

II
1 2

Answer: X-linked dominant is possible, if I-1 is XBY; I-2 is XbXb; II-1 XbY; and II-2 is XB Xb.
Section 6.2
Application Question

51. Is it possible that the characteristic in the pedigree below could be autosomal dominant? If
so, what are the genotypes of each individual (use alleles D and d)? If not, explain why not,
giving specific genotypes.
I
1 2

II
1 2

Answer: Autosomal dominant is possible, if I-1 is Dd; I-2 is dd; II-1 is dd; and II-2 is Dd.
Section 6.2
 Application Question

52. Is it possible that the characteristic in the pedigree below could be X-linked recessive? If so,
what are the genotypes of each individual (use alleles A and a)? If not, explain why not,
giving specific genotypes.

I
1 2

II
1 2

Answer: X-linked recessive is not possible, because if I-2 is XaXa, then II-1 is XaY and
should have the phenotype.
Section 6.2
Application Question

53. Is it possible that the characteristic in the pedigree below could be X-linked dominant? If so,
what are the genotypes of each individual (use alleles B and b)? If not, explain why not,
giving specific genotypes.

I 1 2

II
1 2

Answer: X-linked dominant is possible, if I-1 is XbY, I-2 is XBXb, II-1 is XbY, and II-2 is
XbXb.
Section 6.2
Application Question

54. Is it possible that the characteristic in the pedigree below could be autosomal dominant? If
so, what are the genotypes of each individual (use alleles D and d)? If not, explain why not,
giving specific genotypes.
I
1 2

II

1 2
 Answer: Autosomal dominant is possible, if I-1 is dd; I-2 is Dd; II-1 and II-2 are dd.
Section 6.2
Application Question

55. Tony, who is not diseased, has a sister with cystic fibrosis (CF). Neither of his parents have
CF. Tony is expecting a child with Tina. Tina’s family history is unknown. If the frequency
of heterozygotes in the general population is 1/50, what is the probability that Tony and
Tina’s child will have CF? Explain each factor in your calculation.

Answer: 2/3 × 1/50 × 1/4 = 2/600, or 1/300

(Tony: heterozygous) × (Tina: heterozygous) × (homozygous recessive from two
heterozygotes)
Section 6.2
Challenge Question

56. Explain the principle behind using concordance values for monozygotic and dizygotic twins
to determine the influence of genetic factors on individual differences for a trait.

Answer: MZ twins theoretically share 100% genetic information and DZ twins only 50%.
So if genotype differences cause most of the variation in the population, concordance values
for the characteristic will be high in MZ twins and lower in DZ twins.
Section 6.3
Application Question

57. Researchers studying genetic determination of childhood asthma noted 65% concordance for
monozygotic twin pairs in which at least one twin has asthma and 37% concordance for
dizygotic twin pairs in which at least one twin has asthma.

a. Explain the meaning of 65% concordance for asthma in monozygotic twins.

b. Interpret the difference in concordance for asthma between monozygotic and dizygotic
twins.
c. If genes do influence childhood asthma, how is that 35% of monozygotic twin pairs are
discordant for asthma?

Answer:
a. Sixty-five percent concordance indicates that, in 65% of monozygotic twin pairs in which
one twin has asthma, the other twin will also have asthma.
b. The significantly higher concordance in monozygotic twins compared to dizygotic twins
indicates that genes play a major role in contributing to childhood asthma. The
difference can be attributed to the fact that monozygotic twins share 100% of their genes,
whereas dizygotic twins only share 50% on average.
c. The discordance between monozygotic twins suggests that the environment also plays an
important part in determining asthma. Given that the monozygotic twins are genetically
identical, their different phenotypes must be due to differences in their developmental
environments.
Section 6.3
 Application Question

58. Explain what it means for a genetic counselor to use “nondirected counseling.”

Answer: Nondirected counseling describes a style of counseling in which the genetic

counselor provides information, calculates probabilities, explains risk factors, and explains
reproductive options but does not offer their own opinion or bring their own values into the
discussion.
Section 6.4
Comprehension Question

59. Describe at least two reasons why testing for a genetic condition might be advantageous.

Answer:
(1) A person with an inherited genetic condition might start early treatment to lessen the
severity of the condition.
(2) The symptoms of some genetic conditions can be prevented by early treatment.
(3) If a person is at risk for inheriting a genetic condition, testing can alleviate the anxiety
associated with uncertainty.
(4) Parents who are considering children can determine if they are heterozygous for a
homozygous recessive condition.
(5) A woman who knows the genotype of the embryo or fetus she is carrying may use the
information to decide whether to continue or terminate a pregnancy.
(6) A woman who knows the genotype of the embryo or fetus she is carrying may use the
information to prepare for the birth of a child with an inherited condition.
(7) For embryos produced by in vitro fertilization, genetic testing is used to determine which
embryos to implant.
Section 6.4
Comprehension Question

60. A maternal blood-screening test carried out in the second month of a pregnancy indicates a
level of α-fetoprotein that is significantly higher than normal.

a. What is α-fetoprotein?
b. What does a higher than normal level of α-fetoprotein in the mother’s blood indicate?
c. Critique the maternal blood screening test—specifically, what are its limitations?
d. Given the limitations of the tests, why are they so commonly ordered?
e. If you were the doctor who ordered this test, how would you proceed?

Answer:
a. α-fetoprotein is a protein that is normally created by the fetus during development and is
normally present in fetal blood, amniotic fluid, and the mother’s blood during pregnancy.
b. A higher than normal level indicates that there might be a problem with development of
the fetus. Specifically, high levels are associated with neural-tube defects and certain
other common disruptions to fetal development.
 c. Higher than normal levels of α-fetoprotein are associated with increased risk of genetic or
developmental problems, but they do not prove that a problem is present.
d. Maternal blood-screening tests are not as invasive or as expensive as more definitive tests
(e.g., amniocentesis).
e. You should order additional tests to confirm or rule out the presence of a developmental
problem. These tests might include additional blood tests, ultrasound, amniocentesis, and
CVS.
Section 6.4
Application Question

61. The American College of Medical Genetics recommends mandatory screening of newborn
infants for 29 conditions, and many states have adopted this recommendation into law.

a. Explain the benefits of mandatory newborn screening for medical conditions.

b. Why might some people be concerned about or even opposed to mandatory screening of
newborns?
c. Do you support mandatory screening of newborn infants for genetic disorders? Defend
your position with facts and arguments.

Answer:
a. Newborn screening allows for early identification of medical conditions that can be
treated more effectively when diagnosed early. For example, PKU can lead to mental
retardation if an infant is fed a normal diet. However, if fed a strictly regulated diet from
soon after birth, the brain will develop normally. Mandatory screening has reduced the
incidence and severity of suffering from these conditions, along with social and economic
costs associated with them, in the population as a whole.
b. Some people are concerned about how genetic information from screening tests might be
used and how the blood collected might be used. These concerns are understandable,
given our history of abusing genetic information and misusing biological samples in the
past. Also, blood samples taken for newborn screening have been used in research
without consent of the individuals or their parents. Also, some parents might be
concerned that children identified as having a genetic disorder might be stigmatized and
their futures limited in some way.
c. Obviously, answers will vary. Some students will argue in favor of mandatory screening
and cite the benefits listed in (a). The best answers supporting screening will also
discount the concerns cited in (b) by arguing that laws are now in place or could be
enacted to limit the potential for such abuses. Some students will argue in support of
screening on an economic basis. By identifying a disorder early when it can be treated
successfully, the treatment will save money compared with the much higher cost of
dealing with the untreated patient with the disorder. The PKU story illustrates this
argument well. Some students will argue against mandatory screening and cite the
potential for abuses cited in (b). They might also argue against government intrusion in
the lives of families.
Section 6.4
Application Question
62. Today, more than 1200 genetic tests are available to doctors and patients for use in diagnosis
and treatment of health conditions, and more are becoming available in the near future.
Genetic testing is becoming more common in medical practice, and genetic testing is
expected to become commonplace. Explain the complications that are associated with
genetic testing and why specialized genetic counselors are needed in medical practice.

Answer: Genetic counselors are trained to help patients understand the results of genetic
tests and their implications. They provide information related to genetic disorders, their
causes, and potential treatments so that patients can make informed decisions. Their services
are often needed because genetic tests are complicated and their results are often not
straightforward. For example, many genetic conditions can be caused by many different
alleles, but typically genetic tests only can detect the most common causative alleles. Also,
there often is not a simple relationship between a genotype and its associated phenotype.
With incomplete penetrance, for example, the presence of a particular genotype is associated
only with a probability of developing the associated medical condition. Many people have
difficulty in understanding these probabilities and making appropriate decisions.
Section 6.4
Application Question

63. (a) What is a direct-to-consumer genetic test? (b) What are some advantages of direct-to-
consumer tests? (c) What are some disadvantages or problems associated with these tests? (d)
Do you think states and/or the federal government should regulate direct-to-consumer genetic
testing? Defend your position with facts and arguments.

Answer:
(a) One that is offered directly to consumers without the involvement of health-care
professionals.
(b) Patients often have better access to these tests and costs might be lower because patients
do not have to pay for the services of a health-care professional. Also, the tests can be
carried out anonymously, alleviating concerns about violations of genetic privacy.
(c) In many cases, the tests are offered without appropriate information and genetic
counseling to allow the patients to understand the results and use the information
effectively. Other problems are that the tests are not always accurate and confidentiality
is not always guaranteed.
(d) Answers will vary. Students advocating for regulation should emphasize the
disadvantages and problems listed in (c) and underscore the need for consumer
protections. Students advocating for keeping the market unregulated should emphasize
for freer access, reduced costs, and the responsibility of individuals for choosing the
services and using the results appropriately. They might argue that informed consumers
will choose companies that provide proper genetic counseling and guarantee
confidentiality.
Section 6.4
Application Question
Test Bank for Genetics A Conceptual Approach 5th Edition Benjamin A Pierce Download

64. (a) What is genetic discrimination? Provide an example. (b) What protections are provided to
individuals by the Genetic Information Nondiscrimination Act? What are some important
limitations of the law?

Answer:
(a) Genetic discrimination is negative treatment of individuals based on information about
their genotype or family history. An example would be denial of health insurance based
on the presence of a genotype that is expected to produce bad health in the future.
(b) The law prohibits discrimination against individuals in employment and health insurance
based on genetic information. The law does not provide protection in life, disability, and
long-term care insurance, which are also important to individuals who are at risk for a
genetic disorder. Also, individuals might have a difficult time proving that denial of a job
or health insurance was based on their genetic status and not some other factor.
Section 6.4
Application Question

Visit TestBankBell.com to get complete for all chapters