Exam

Name___________________________________

MATCHING. Choose the item in column 2 that best matches each item in column 1.

Match the following:

1) Actual genetic makeup. A) Recessive

1)

2) A chromosome pair that may be very B) Homozygous

2)
different in size.
C) Sex chromosomes
3) Genes not expressed unless they are
3)
present in homozygous condition. D) Genotype

4) Situation in which an individual

4)
requires identical alleles for that
particular trait to be expressed.

Match the following:

5) Lack of skin pigmentation. A) Huntington's disease

5)

6) Rare type of dwarfism resulting from B) Tay-Sachs disease

6)
an impaired ability of the fetus to
lengthen long bones by endochondral C) Albinism
ossification.
D) Cystic fibrosis
7) An unremitting, fatal nervous system
7)
disease involving degeneration of the
E) Achondroplasia
basal nuclei.

8) A condition of drier excessively sticky

8)
mucus production.

9) A disorder of brain lipid metabolism.

9)

Match the following:

10) Genes for the same trait that have A) Allele

10)
different expressions.

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 11) The gene allele that suppresses or A) Heterozygous
11)
masks the expression of the other
allele. B) Dominant

12) Situation in which an individual has C) Autosomes 12)

different alleles making up the
genotype for a particular trait.

13) Chromosomes regulating most body

13)
characteristics.

Match the following:

14) The dominant gene is expressed when A) Incomplete dominance

14)
present; the recessive gene is
expressed only in the absence of the B) Multiple-allele inheritance
dominant gene.
C) Polygenic inheritance
15) The heterozygote has a phenotype
15)
intermediate between those of the
D) Sex-linked inheritance
homozygous dominant and
homozygous recessive.
E) Dominant-recessive
16) Inheritance of the ABO blood group
16)
type is an example of this type of
inheritance.

17) Inheritance that results in continuous

17)
or qualitative phenotypic variations
between two extremes; an example is
skin color.

18) Inherited traits determined by genes

18)
on the X or Y chromosomes.

Match the following:

19) Distribution of chromosomes to A) Chromosome segregation

19)
different gametes.
B) Gene recombination
20) Results in chromosomes that have
20)
mixed contributions from each parent. C) Chromosome crossover

21) A particular gene's allele received by a D) Independent assortment 21)

gamete has no influence over selection
of a different gene's allele.

22) Means by which genes trade places,

22)
some maternal and some paternal, on
each chromosome.

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TRUE/FALSE. Write 'T' if the statement is true and 'F' if the statement is false.

23) When genes are on the X or Y chromosomes, they are considered X -linked. 23)

24) Height in humans is determined by polygene inheritance. 24)

25) The expression of all physical traits is strictly due to the inheritance of specific genes. 25)

26) Y chromosomes contain far more genes than X chromosomes. 26)

27) The same allele can have a different effect depending on which parent it comes from. 27)

28) Hereditary characteristics are transmitted to offspring by genes. 28)

29) Alleles may code for alternative expressions of a genetic trait. 29)

30) Hemophilia is an X-linked condition caused by a recessive gene. 30)

31) Environmentally produced phenotypes that mimic conditions that may be caused by genetic 31)
mutation are called phenocopies.

32) A diagram of human relatives with specific genetic traits is called a pedigree. 32)

33) A Punnett square is a diagram that may be used to figure out the possible combinations of genes 33)
for a trait.

34) The term lethal dominant gene indicates that the gene causes death only when the individual is 34)
homozygous dominant.

35) In incomplete dominance, the heterozygote has an intermediate phenotype between that of 35)
homozygous dominant and homozygous recessive individuals.

36) Down syndrome is an example of nondisjunction of chromosomes. 36)

37) Genomic imprinting refers to the methylation of an allele during gamete formation that causes one 37)
parent's allele to be expressed and the other parent's allele to be ignored.

38) Genetic segregation implies that the members of the allele pair determining each trait are 38)
distributed to different gametes during mitosis.

39) Genetic variation results from the crossing over and exchange of chromosomal parts that occur 39)
during meiosis II.

40) Small RNAs control the timing of programmed cell death during development. 40)

41) Mitochondrial genes are free of errors. As a result, all genetic problems are due exclusively to 41)
nuclear genes.

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 42) It is possible for a baby to have type O blood if neither parent is type O. 42)

MULTIPLE CHOICE. Choose the one alternative that best completes the statement or answers the question.

43) How many alleles exist for a given gene? 43)

A) Only two alleles can exist per gene.
B) Only one allele can exist per gene.
C) Each gene can have a different number of alleles.
D) Four alleles exist per gene, two from each parent.

44) Select the statement that best describes the difference between a gene and an allele. 44)
A) Genes follow Mendelian patterns of inheritance while alleles follow non-Mendelian patterns
of inheritance.
B) Genes express a specific trait while alleles are variations of a particular gene that result in the
variation we see in that trait.
C) Alleles are found on chromosomes while genes are independent.
D) Genes code for a single protein or a single trait while an allele can code for many traits or
many proteins.

45) If a person is homozygous for a particular trait this means ________. 45)
A) the person cannot pass on that trait
B) the person has two dominant alleles for the gene responsible for the trait
C) the person has two identical alleles for the gene responsible for the trait
D) the person will not have a recessive condition

46) A dominant allele is best defined as ________. 46)

A) an allele that stops or hides the expression of another allele
B) the stronger of two matched alleles
C) the healthy allele sometimes referred to as the wild type allele
D) the allele that is most frequently expressed in a given population

47) Recessive alleles are best defined as ________. 47)

A) an allele only expressed when the allele is homozygous
B) the least frequently expressed allele in a given population
C) a weakened or attenuated allele
D) a deleterious or disease-causing allele

48) Of the different sources of genetic variability, which one causes the variation in the combinations 48)
of homologs from paternal and maternal linage found within a haploid cell?
A) crossing over B) random fertilization
C) mutation D) independent assortment

49) Of the different sources of genetic variability, which one produces the variation in the 49)
combinations of alleles on a single chromosome?
A) independent assortment B) mutation
C) random fertilization D) crossing over

50) Of the different sources of genetic variability, which one produces the variation seen by the 50)
combination of any particular male gamete with any particular female gamete?
A) independent assortment B) crossing over
C) mutation D) random fertilization

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51) Of the different sources of genetic variability, which one could be defined as permanent, 51)
transmissible changes to the DNA coding sequence often caused by outside environmental factors?
A) mutation B) crossing over
C) random fertilization D) independent assortment

52) The cleft chin trait follows a dominant-recessive inheritance pattern with cleft chin being the 52)
dominant trait. John is heterozygous for a cleft chin as is his wife Betty. John and Betty have two
kids, both with cleft chins. According to Punnett square prediction what is the likely hood that
their next child will have a cleft chin?
A) 25% chance, the same probability for all of their children
B) 0% because the two previous children have cleft chins already
C) 100% chance because the mother and father both have cleft chins
D) 75% chance, the same probability for all of their children

53) Steven has the dominant tongue rolling phenotype but he does not know his genotype. His wife 53)
has the recessive non-tongue rolling trait. If their son cannot roll his tongue this means ________.
A) Steven has a homozygous recessive genotype
B) Steven has a heterozygous genotype
C) Steven has a homozygous dominant genotype
D) that it is impossible to tell Steven's genotype from this information alone

54) Steven has the dominant tongue rolling phenotype but he does not know his genotype. His wife 54)
has the recessive non-tongue rolling trait. If their son can roll his tongue this means ________.
A) Steven has a homozygous recessive genotype
B) Steven has a heterozygous genotype
C) Steven has a homozygous dominant genotype
D) that it is impossible to tell Steven's genotype from this information alone

55) Two alleles expressing exactly the same information for a trait are described as ________. 55)
A) monogamous B) heterozygous C) hemizygous D) homozygous

56) Dominant alleles are so called because under most circumstances they ________. 56)
A) code for desired traits only
B) code for the most common phenotypic and genotypic expressions of a trait
C) code for genes that are never considered harmful or lethal
D) can suppress the expression of other alleles

57) Recessive genes are usually expressed in humans only when ________. 57)
A) they are coding for skin color
B) the organism is in the embryonic stage
C) they are coding for genetic diseases
D) both alleles for the gene are exactly the same, or homozygous

58) The expressed form of a gene is described as the organism's ________. 58)
A) karyotype B) genotype C) phenotype D) genome

59) If a digital image is made of chromosomes in a cell going through mitosis, and the chromosomes 59)
are sorted and paired, the resulting display is a ________.
A) genome B) karyotype C) genotype D) phenotype

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60) A female infant is born with several hundred oocytes, each one genetically unique. This is due to 60)
________.
A) chromosome deletion
B) independent assortment and crossing over
C) mutation
D) random fertilization

61) Which event can directly produce one chromosome containing both maternal and paternal genes? 61)
A) crossing-over only
B) crossing-over and independent assortment
C) independent assortment only
D) one chromosome can never have genes from both parents

62) The reason recessive genetic disorders are more frequent than dominant genetic disorders is that 62)
________.
A) dominant genetic disorders are never expressed in males
B) people carrying dominant genetic disorders always die before birth
C) recessive genetic disorders are limited to persons of the same ethnicity
D) carriers are not eliminated by the disease before passing the defective alleles on to their
offspring

63) The gene responsible for the condition known as sickle-cell anemia demonstrates ________. 63)
A) a sex-linked genetic disorder B) a dominant genetic disorder
C) a recessive genetic disorder D) incomplete dominance

64) The variation seen in ABO blood groups is due to ________. 64)
A) multiple-allele inheritance B) incomplete dominance
C) polygene inheritance D) sex-linked inheritance

65) Which of the following best describes genotypes and phenotypes? 65)
A) A person's genotypes often change during their lifetime, but their phenotypes typically do
not.
B) A trait that is expressed such as eye color is the phenotype and the gene responsible for eye
color is the genotype.
C) A person's genotypes and phenotypes often both change during their lifetime.
D) A person's genotypes and phenotypes are typically unchanging during their lifetime.

66) The genotype of a normal man is ________. 66)

A) Y B) XY C) XX D) YY

67) Which is NOT one of the ways in which small, non-coding RNA-enzyme complexes influence 67)
gene expression?
A) destroying the peptide generated by the translation of the target mRNA
B) blocking the transcription of the gene that codes for the target mRNA
C) destroying the target mRNA
D) inhibiting translation of the target mRNA into a peptide

68) Mitochondrial DNA (mDNA) is inherited ________. 68)

A) only from the father B) from neither the father or the mother
C) only from the mother D) from both the father and the mother

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69) Errors in mitochondrial DNA are likely to cause genetic disorders associated with ________. 69)
A) nondisjunction B) glycolysis
C) oxidative phosphorylation D) gametogenesis

70) An individual who is heterozygous for a particular trait, yet expresses both alleles of that trait, is 70)
demonstrating an example of ________.
A) recessive inheritance B) sex-linked inheritance
C) incomplete dominance D) dominance

71) CRISPR-Cas9 refers to a(n) ________. 71)

A) technique used to change and edit sequences of DNA
B) enzyme responsible for self-destructing mutated cells
C) technique for creating a karyotype of one's chromosomes
D) locus on a chromosome where the trait for sickle-cell anemia is carried

72) The epigenetic mark that indicates that a gene is available for transcription is ________ bound to 72)
the DNA or histone proteins.
A) a small RNA-enzyme complex B) a methyl group
C) an acetyl group D) an amine group

73) The epigenetic mark that silences the expression of a gene is ________ bound to the DNA or 73)
histone proteins.
A) a methyl group B) a carboxyl group
C) an acetyl group D) an amine group

74) Albinism is a recessive trait. If one parent is heterozygous for albinism, and the other parent does 74)
not carry the allele, what is the probability that they will have a child with albinism?
A) 0% B) 25% C) 100% D) 50%

75) ________ is the most common type of fetal testing. 75)

A) CVS B) Blood chemistry
C) A DNA probe D) Amniocentesis

76) Jeff made a detailed pedigree of his extended family over several generations. He noted all of the 76)
family members who expressed a specific genetic trait. He noted that this trait was not observed in
every generation, and that it was expressed far more frequently in the males of the family. Based
on this information alone, what terms would best describe this trait?
A) autosomal dominant B) sex-linked dominant
C) autosomal recessive D) sex-linked recessive

77) Which of the following statements is true concerning genetic screening? 77)
A) Screening can be done only in the first trimester of pregnancy.
B) Screening can be done before conception by carrier recognition or during fetal testing.
C) Genetic screening is rarely done because it yields very little accurate information.
D) Screening is illegal in over half of the world.

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 78) Amy's hand was exposed to X-rays. A gene in a skin cell of her hand mutated. This mutant gene 78)
will ________.
A) not form an exact duplicate of itself when the cell divides
B) replicate itself when the cell divides but will not be passed on to Amy's offspring
C) very likely cause skin cancer
D) replicate itself and be passed on to Amy's children

79) The main way a recessive allele would be fully expressed even when only one copy is present 79)
would be ________.
A) recessive inheritance B) co-dominance
C) incomplete dominance D) sex-linked inheritance

80) A couple whose blood types are AB (I AIB) and B (IBi) may have a child with which of the 80)
following blood types?
A) A or B only B) AB only
C) A, B, AB, or O D) A, B, or AB only

81) Gene mutations in the X chromosome would tend to become visibly expressed ________. 81)
A) more frequently in males B) equally frequently in both sexes
C) more frequently in females D) in neither males nor females

82) For which of the following are newborn infants NOT routinely screened at birth? 82)
A) imperforate anus B) color blindness
C) congenital hip dysplasia D) PKU

SHORT ANSWER. Write the word or phrase that best completes each statement or answers the question.

83) The X and Y chromosomes are considered the ________ chromosomes. 83)

84) An allele that completely masks the expression of the other alleles is called ________. 84)

85) Observable characteristics expressed by the genes for a trait are called the ________. 85)

86) Albinism is a good example of a(n) ________ trait. 86)

87) Color blindness is a(n) ________ trait. 87)

88) Removing a sample of the fluid surrounding the fetus for the purpose of studying the 88)
chromosomes is a procedure called ________.

89) The 23rd pair of human chromosomes are called ________ chromosomes. 89)

90) The ABO blood type is a good example of a(n) ________ inheritance. 90)

91) Define phenocopy. 91)

92) Define karyotype. 92)

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 93) How might carriers of deleterious genes be recognized? 93)

94) ________ disease is a disorder of brain lipid metabolism and is an example of a recessive 94)
trait.

Figure 29.1

Use Figure 29.1 to answer the following:

95) Is the trait sex-linked? 95)

96) Is the trait dominant or recessive? 96)

97) Identify, by numbers, any known carriers. 97)

98) Identify, by numbers, any other possible carriers. 98)

99) Are there any afflicted females? 99)

100) Are there any male carriers? 100)

101) When might amniocentesis be appropriate? 101)

102) Describe briefly the three mechanisms that lead to genetic variability. 102)

103) What is (are) the phenotype(s) of the first-generation offspring? 103)

104) What is (are) the genotype(s) of the first-generation offspring? 104)

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 105) A cross of two second-generation, straight-shorthaired individuals would yield what 105)
phenotype?

106) What would the parental gametes be from a cross of two second -generation, 106)
straight-shorthaired individuals?

107) What would be the gametes of the first-generation individuals? 107)

108) The second-generation types would have what phenotypes? 108)

109) The second-generation phenotypes would follow what ratio? (Pair the number with a 109)
phenotype in each case.)

110) What possible genotype(s) could the second-generation, fuzzy-longhaired individuals 110)
possess?

111) What were the genotypes of the parental (P1) individuals? 111)

112) Two tall red pea plants, when crossed, produced some offspring that were white and 112)
dwarf. Assuming that tallness and redness are dominant, what are the genotypes of the
parents?

ESSAY. Write your answer in the space provided or on a separate sheet of paper.

113) In humans, farsightedness is inherited by possession of a dominant gene. If a man who is homozygous for
normal vision (aa) marries a woman who is heterozygous for farsightedness, what proportion of their children
would be expected to be farsighted?

114) Parents are informed after an amniocentesis that the results show a baby who has an extra number 21
chromosome. Should there be concern and what might the problem be?

115) Jane and Allen have just discovered that their son is a hemophiliac. Neither of them has hemophilia, and Allen
claims that no such condition was ever expressed in his family. Jane was told that her father was a hemophiliac
and that problems resulting from this condition caused his death. Allen has also been told that hemophilia can
only be passed on to an offspring by parents and not by grandparents; he believes that Jane was unfaithful and
that the child is not his. If you were a genetic counselor, what would you tell Allen?

116) The folk singer, Woody Guthrie, died of Huntington's chorea. One of his parents also died of this disease
affecting the nervous system. The disease usually affects carriers between 25 and 45 years of age and is
inherited as a Mendelian autosomal dominant trait. Using Punnett squares, determine the probability that any
of the three Guthrie offspring will have this devastating disease.

117) A 40-year-old pregnant woman is concerned about possible genetic defects in her unborn fetus. Her physician
recommends prenatal testing and advises her of two methods. Compare and contrast amniocentesis with
chorionic villus sampling relative to the time each can be performed, and the relative advantages and
disadvantages of each.

118) A family has four offspring belonging respectively to ABO blood groups A, B, O, and AB. Give the genotypes
and phenotypes of the parents.

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119) Assume that the allele controlling brown eyes (B) is dominant over that controlling blue eyes (b) in human
beings. (In actuality, eye color in humans is an example of polygene inheritance, which is much more complex
than this.) A blue-eyed man marries a brown-eyed woman, and they have six children, all brown-eyed. What
is the most likely genotype of the father? What is the most likely genotype of the mother? If a seventh child had
blue eyes, what can you conclude about the parents' genotypes?

120) Colorblindness is a recessive sex-linked trait. Suppose a colorblind female marries a man with normal vision.
(a) What is their probability of producing a color-blind son? (b) What is their probability of producing a
color-blind daughter? (c) What is their probability of producing a daughter who is a carrier for the color-blind
gene?

121) Assume that brown eyes (B) are dominant over blue (b); and right-handedness (R) is dominant over
left-handedness (r). A brown-eyed, right-handed man marries a blue-eyed, right-handed woman. Their first
child is brown-eyed and right-handed, and their second child is blue-eyed and left-handed. What are the
genotypes of the parents?

122) This is a first pregnancy for a 22-year-old woman. She is in her 16th week of pregnancy. She is scheduled for
an amniocentesis and expresses concern that the "baby will be stuck with the needle." What should the doctor
say to the woman?

123) A patient is heterozygous for sickle-cell anemia. Explain why the patient would have few or no symptoms of
sickle-cell anemia.

124) A nurse is providing genetic counseling to a couple who both have the sickle-cell anemia trait, but not the
disease. The couple is trying to decide whether or not to have a child. What is the possibility that a child would
inherit the disease? What is one reason they might consider not having a child?

11
Answer Key
Testname: UNTITLED29

1) D
2) C
3) A
4) B
5) C
6) E
7) A
8) D
9) B
10) A
11) B
12) A
13) C
14) E
15) A
16) B
17) C
18) D
19) A
20) B
21) D
22) C
23) FALSE
24) TRUE
25) FALSE
26) FALSE
27) TRUE
28) TRUE
29) TRUE
30) TRUE
31) TRUE
32) TRUE
33) TRUE
34) FALSE
35) TRUE
36) TRUE
37) TRUE
38) FALSE
39) FALSE
40) TRUE
41) FALSE
42) TRUE
43) C
44) B
45) C
46) A
47) A
48) D
49) D
50) D
12
Answer Key
Testname: UNTITLED29

51) A
52) D
53) B
54) D
55) D
56) D
57) D
58) C
59) B
60) B
61) A
62) D
63) D
64) A
65) B
66) B
67) A
68) C
69) C
70) C
71) A
72) C
73) A
74) A
75) D
76) D
77) B
78) B
79) D
80) D
81) A
82) B
83) sex
84) dominant
85) phenotype
86) recessive
87) sex-linked
88) amniocentesis
89) sex
90) multiple-allele
91) Environmentally produced phenotypes that mimic conditions that may be caused by genetic mutations.
92) Karyotype is the chromosomal content of a cell.
93) Carriers of deleterious genes may be recognized if their offspring show symptoms of the condition or disease caused
by the deleterious gene. Because the genes are usually recessive, they would show phenotypically only if the offspring
received the recessive genes from both parents. A pedigree analysis may be done to trace a particular trait back
through several generations. Blood chemistry tests (and DNA probing) may also be done if particular genetic traits are
suspected.
94) Tay-Sachs
95) Yes.
96) Recessive.
13
Answer Key
Testname: UNTITLED29

97) 2, 5, 7, and 18.

98) 14, 16, 23, and 25.
99) No.
100) No.
101) Amniocentesis might be performed any time a history of any genetic disability is discovered in a family, especially if
there are several occurrences in a family. This will give the parents an early warning of any possible problem with the
fetus. Other "high-risk pregnancies" (such as in women over 35) may also suggest use of amniocentesis. Parents are
required to be informed of the possible risks in performing an amniocentesis.
102) The three mechanisms that lead to genetic variability include independent assortment of chromosomes, crossover of
homologues, and random fertilization of eggs by sperm. Each pair of homologous chromosomes synapses during
meiosis I, forming a tetrad. The alignment and orientation of the tetrads on the metaphase I spindle depend on chance.
The chromosomes are then randomly distributed to daughter cells. Because the way each tetrad aligns is random, and
many mother cells are undergoing meiosis simultaneously, each alignment and each type of gamete occurs with the
same frequency as all others. Additional variation results from the crossing -over and exchange of chromosomal parts
that occur during meiosis I. During meiosis, paternal chromosomes can precisely exchange gene segments with the
homologous maternal ones, giving rise to recombinant chromosomes with mixed contributions from each parent. A
single human egg will be fertilized by a single sperm on a totally haphazard basis.
103) The phenotypes of the first-generation offspring are all fuzzy-longhaired.
104) The genotypes of the first-generation offspring are all FfTt.
105) A cross of two second-generation, straight-shorthaired individuals would yield a straight-shorthaired phenotype.
106) The parental gametes from the cross would all be ft.
107) The gametes of the first-generation individuals from the original cross would be FT, fT, Ft, and ft.
108) The second-generation recombination types would have the following phenotypes: fuzzy -longhaired,
fuzzy-shorthaired, straight-longhaired, and straight-shorthaired.
109) The second-generation phenotypes would appear in the following ratios: 9 fuzzy-longhaired, 3 fuzzy-shorthaired, 3
straight-longhaired, and 1 straight-shorthaired.
110) The second-generation, fuzzy-longhaired individuals could be FFTT, FfTT, FFTt, or FfTt.
111) The genotypes of the parental individuals were FFTT and fftt.
112) The parents must both be heterozygous for the dominant traits; therefore, their genotypes would be TtRr, where T =
dominant trait for height, t = recessive trait for height, R = dominant trait for color, and r = recessive trait for color.
113) One-half of their children would be expected to be farsighted.
114) The fetus will become a Down syndrome baby. The baby will probably be retarded, have short fingers and a large
tongue, and have a tendency for a short stature.
115) The grandfather of the child was a hemophiliac and gave his X chromosome to Jane. She did not express the disease
because she has two X chromosomes, and the normal dominant allele suppressed the expression of hemophilia (a
male needs only one hemophiliac allele to express the disease). Jane was not unfaithful, as she is a carrier who would
not be expected to express the recessive phenotype. The child probably received the allele from Jane even though she
did not have the disease.
116) Woody had to have been a heterozygote Hh for the allele because the dominant homozygous condition is lethal to the
fetus. Woody's wife did not have the disease so she was not carrying it. Genetically they were Hh × hh. Using a
Punnett square, the probability of having a child with the disease would be 50%.
117) Amniocentesis is not normally done before the 14th week of pregnancy. The disadvantage is the risk of injury to the
fetus, but ultrasound visualization has dramatically reduced the risk. Tests can be done on the fluid withdrawn to
determine the presence of chemicals that serve as markers for specific diseases. The cells themselves are cultured and
examined for DNA markers of genetic disease. Karyotyping is also done to check for chromosomal abnormalities.
Chorionic villus sampling can be done at eight weeks. It is much faster but may be more risky for the fetus.
Karyotyping can be done on the rapidly dividing cells very quickly.
118) The parents have the following genotypes and phenotypes: One parent is I Ai (heterozygous for A) with type A blood;
the other parent is I Bi (heterozygous for B) with type B blood.

14
Answer Key
Testname: UNTITLED29

119) The most likely genotype of the father is bb (homozygous recessive) for the trait. The most likely genotype for the
mother is either Bb (heterozygous with both a dominant and a recessive gene) or BB (homozygous dominant) for the
trait. If a seventh child had blue eyes, the mother's genotype would be Bb, and the father's genotype still would be bb.
120) (a) 100% of their sons will be color-blind. (b) 0% of the daughters will be color-blind. (c) All of the daughters will be
carriers for the color-blind gene.
121) The man has a BbRr genotype, while the woman has a bbRr genotype.
122) The doctor should explain that this is a fairly simple procedure and that an ultrasound will be used to visualize the
position of the fetus and the amniotic sac to assist accuracy. The mother will need to decide whether to consent to the
procedure after being informed of a small risk of losing the pregnancy (currently 0.3-1%) as a complication of
amniocentesis.
123) Individuals heterozygous for the sickling gene make both normal and sickling hemoglobin. As a rule, these
individuals are quite healthy since under reasonable aerobic conditions (at rest and during moderate exercise), the
mixed Hb-A and Hb-S still has sufficient O2 -carrying capacity and will not sickle, but they can suffer if there is
prolonged reduction in blood oxygen levels.
124) The chances of having a child with the disease are 25%. A reason not to have a child is that if a child is afflicted with
sickle-cell anemia, the child will suffer and have severe pain.

15