Mendel's laws of segregation and independent assortment govern inheritance patterns. When Mendel crossed two heterozygotes with different alleles at the same locus (DaDb x DcDd), he would expect the following genotype proportions in the offspring: 1) 9% DaDa, DbDb, DcDc, DdDd (homozygotes) 2) 24% DaDb, DaDc, DaDd, DbDc, DbDd, DcDd (heterozygotes) 3) 43% DaDc, DaDd, DbDc, DbDd (other heterozygotes) The alleles assort independently during gamete formation, allowing for all possible combinations in a 9:

1. Chapter 14
Mendel and the
Gene Idea

2. Overview: Drawing from the Deck of
Genes• What genetic principles account for the passing
of traits from parents to offspring?
• The “blending” hypothesis is the idea that
genetic material from the two parents blends
together (like blue and yellow paint blend to
make green)
• The “particulate” hypothesis is the idea that
parents pass on discrete heritable units (genes)
• Mendel documented a particulate mechanism
through his experiments with garden peas

3. Mendel’s Experimental, Quantitative
Approach
• Advantages of pea plants for genetic study:
– There are many varieties with distinct heritable
features, or characters (genes) (such as color);
character variations are called traits (alleles)
– Mating of plants can be controlled
– Each pea plant has sperm-producing organs
(stamens) and egg-producing organs (carpels)
– Cross-pollination (fertilization between different
plants) can be achieved by dusting one plant with
pollen from another

4. Figure 14.2
Technique
1
2
Parental
generation
(P)
Stamens
Carpel
3
4
5
Results
First filial
generation
offspring
(F1)
-short generation time
-lots of progeny
-controlled matings

5. Mendel Chose Pea Plants as His
Experimental Organism
• Hybridization
– The mating or crossing between two individuals that
have different characteristics
• Purple-flowered plant X white-flowered plant
• Hybrids
– The offspring that result from such a mating
• He also used varieties that were “true-breeding”
(plants that produce offspring of the same variety
when they self-pollinate for 5 generations)

6. • In a typical experiment, Mendel mated two
contrasting, true-breeding varieties, a process
called hybridization
• The true-breeding parents are the P generation
• The hybrid offspring of the P generation are
called the F1 generation
• When F1 individuals self-pollinate, the F2
generation is produced

7. The Law of Segregation
• When Mendel crossed contrasting, true-breeding
white and purple flowered pea plants, all of the F1
hybrids were purple
• When Mendel crossed the F1 hybrids, many of the F2
plants had purple flowers, but some had white
• Mendel discovered a ratio of about three to one,
purple to white flowers, in the F2 generation

8. Figure 14.3-3
705 purple-flowered
plants
224 white-flowered
plants
Self- or cross-pollination
All plants had purple flowers
Purple
flowers
White
flowers
P Generation
(true-breeding
parents)
F1 Generation
(hybrids)
F2 Generation
Experiment

9. • Mendel reasoned that only the purple flower factor
was affecting flower color in the F1 hybrids
• Mendel called the purple flower color a dominant
trait and white flower color a recessive trait
• Mendel observed the same pattern of inheritance
in six other pea plant characters, each represented
by two traits
• What Mendel called a “heritable factor” is what we
now call a gene

10. Table 14.1

11. Mendel’s Model
• Mendel developed a hypothesis to explain the 3:1
inheritance pattern he observed in F2 offspring
• Four related concepts make up this model
• These concepts can be related to what we now
know about genes and chromosomes

12. Figure 14.4
Allele for
white flowers
Allele for
purple flowers
Pair of
homologous
chromosomes
Enzyme that helps
synthesize purple
pigment
Absence of enzyme
Enzyme
Locus for
flower-color gene
One allele
results in
sufficient
pigment
C T A A A T C G G T
G A T T T A G C C A
CTAAATCGGT
ATAAATCGGT
A T A A A T C G G T
T T T TA A G C C A
Concept 1. Alternative versions (now called alleles) of
inherited characters account for variations. Each allele
resides at a specific locus (gene) on a specific
chromosome.

13. Concept 2. Each character of an organism inherits
two alleles, one from each parent. Mendel made
this deduction without knowing about the role of
chromosomes.
Concept 3. If the two alleles at a locus differ, then
one (the dominant allele) determines the
organism’s appearance, and the other (the
recessive allele) has no noticeable effect on
appearance. The recessive is masked when the
dominant is present.

14. Concept 4, now known as the law of segregation,
states that the two alleles for a heritable
character separate (segregate) during gamete
formation and end up in different gametes. Thus,
an egg or a sperm gets only one of the two alleles
that are present in the somatic cells of an
organism
This segregation of alleles corresponds to the
separation of homologous chromosomes to
different gametes in anaphase I of meiosis.

15. • Mendel’s segregation model accounts for the 3:1
ratio he observed in the F2 generation of his
numerous crosses
• The possible combinations of sperm and egg can be
shown using a Punnett square, a diagram for
predicting the results of a genetic cross between
individuals of known genetic makeup
• A capital letter represents a dominant allele, and a
lowercase letter represents a recessive allele

16. Figure
14.5-3
P Generation
F1 Generation
Appearance:
Genetic makeup:
Gametes:
Purple flowers
PP
White flowers
pp
Purple flowers
Pp
P p
P p1
2
1
2
P p
p
P
PP Pp
ppPp
Sperm from F1 (Pp) plant
F2 Generation
Appearance:
Genetic makeup:
Gametes:
Eggs from
F1 (Pp) plant
3 : 1

17. • 1. Write down the genotypes of both parents
–Male parent = Tt
–Female parent = Tt
• 2. Write down the possible gametes each parent
can make.
–Male gametes: T or t
–Female gametes: T or t
Punnett Squares

18. • 3. Create an empty Punnett square
• 4. Fill in the Punnett square with the possible
genotypes of the offspring

19. • 5. Determine the relative proportions of
genotypes and phenotypes of the offspring
– Genotypic ratio
• TT : Tt : tt
• 1 : 2 : 1
– Phenotypic ratio
• Tall : dwarf
• 3 : 1

20. Phenotype Genotype
Purple PP
(homozygous)
Purple
Purple
White
Ratio 3:1 Ratio 1:2:1
Pp
(heterozygous)
Pp
(heterozygous)
pp
(homozygous)
3
1 1
1
2

21. 1. Imagine a genetic counselor working with a couple who have
just had a child who is suffering from Tay-Sachs disease.
Neither parent has Tay-Sachs, nor does anyone in their
families. Which of the following statements should this
counselor make to this couple?
a. “Because no one in either of your families has Tay-Sachs, you are not
likely to have another baby with Tay-Sachs. You can safely have
another child.”
b. “Because you have had one child with Tay-Sachs, you must each
carry the allele. Any child you have has a 50% chance of having the
disease.”
c. “Because you have had one child with Tay-Sachs, you must each
carry the allele. Any child you have has a 25% chance of having the
disease.”
d. “Because you have had one child with Tay-Sachs, you must both carry
the allele. However, since the chance of having an affected child is
25%, you may safely have thee more children without worrying about
having another child with Tay-Sachs.”
e. “You must both be tested to see who is a carrier of the Tay-Sachs
allele.”

22. 1. Imagine a genetic counselor working with a couple who have
just had a child who is suffering from Tay-Sachs disease.
Neither parent has Tay-Sachs, nor does anyone in their
families. Which of the following statements should this
counselor make to this couple?
a. “Because no one in either of your families has Tay-Sachs, you are not
likely to have another baby with Tay-Sachs. You can safely have
another child.”
b. “Because you have had one child with Tay-Sachs, you must each
carry the allele. Any child you have has a 50% chance of having the
disease.”
c. “Because you have had one child with Tay-Sachs, you must each
carry the allele. Any child you have has a 25% chance of having
the disease.”
d. “Because you have had one child with Tay-Sachs, you must both carry
the allele. However, since the chance of having an affected child is
25%, you may safely have thee more children without worrying about
having another child with Tay-Sachs.”
e. “You must both be tested to see who is a carrier of the Tay-Sachs
allele.”

23. The Testcross
• How can we tell the genotype of an individual
with the dominant phenotype?
• Such an individual must have one dominant
allele, but the individual could be either
homozygous dominant or heterozygous
• The answer is to carry out a testcross: breeding
the mystery individual with a homozygous
recessive individual
• If any offspring display the recessive phenotype,
the mystery parent must be heterozygous

24. Figure
14.7
Dominant phenotype,
unknown genotype:
PP or Pp?
Recessive phenotype,
known genotype:
pp
Predictions
Eggs
All offspring purple
or
1 2 offspring purple and
offspring white1 2
Eggs
Results
Techniqu
e
If purple-flowered
parent is PP
If purple-flowered
parent is Pp
Sperm Sperm
or
pp p p
P
p
P
P
Pp Pp
PpPp pp
Pp Pp
pp

25. • Mendel identified his second law of inheritance
by following two characters at the same time
• Crossing two, true-breeding parents differing in
two characters produces dihybrids in the F1
generation, heterozygous for both characters
• A dihybrid cross, a cross between F1 dihybrids,
can determine whether two characters are
transmitted to offspring as a package or
independently
The Law of Independent Assortment

26. LE 14-8
P Generation
F1 Generation
YYRR
Gametes YR yr
yyrr
YyRr
Hypothesis of
dependent
assortment
Hypothesis of
independent
assortment
Sperm
Eggs
YR
Yr
yrYR
YR
yr
Eggs
YYRR YyRr
YyRr yyrr yR
yr
Phenotypic ratio 3:1
F2 Generation
(predicted
offspring)
YYRR YYRr YyRR YyRr
YYRr YYrr YyRr Yyrr
YyRR YyRr yyRR yyRr
YyRr Yyrr yyRr yyrr
Phenotypic ratio 9:3:3:1
YR Yr yR yr
Sperm
1
2
1
4
1
4
1
4
1
4
1
4
3
4
1
2
1
2
1
2
1
4
9
16
3
16
3
16
3
16
1
4
1
4
1
4

27. • Using a dihybrid cross, Mendel developed the
law of independent assortment
• The law of independent assortment states that
each pair of alleles segregates independently of
other pairs of alleles during gamete formation
• Strictly speaking, this law applies only to genes
on different, nonhomologous chromosomes
• Genes located near each other on the same
chromosome tend to be inherited together

28. Concept 14.2: The laws of probability
govern Mendelian inheritance
• Mendel’s laws of segregation and independent
assortment reflect the rules of probability
• When tossing a coin, the outcome of one toss
has no impact on the outcome of the next toss
• In the same way, the alleles of one gene
segregate into gametes independently of
another gene’s alleles

29. Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
The Multiplication and Addition Rules Applied to
Monohybrid Crosses
• The multiplication rule states that the
probability that two or more independent
events will occur together is the product of their
individual probabilities
• Probability in an F1 monohybrid cross can be
determined using the multiplication rule
• Segregation in a heterozygous plant is like
flipping a coin: Each gamete has a 1/2 chance
of carrying the dominant allele and a 1/2
chance of carrying the recessive allele

30. Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
Eggs
1
2
Sperm
Rr
Segregation of
alleles into eggs
Rr
Segregation of
alleles into sperm
1
2
1
4
1
4
1
4
1
4
1
2
1
2R
R
RR
R
r
r
r
rr
Rr

31. • The rule of addition states that the probability
that any one of two or more exclusive events
will occur is calculated by adding together their
individual probabilities
• The rule of addition can be used to figure out
the probability that an F2 plant from a
monohybrid cross will be heterozygous rather
than homozygous

32. Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
Solving Complex Genetics Problems with the Rules
of Probability
• We can apply the rules of multiplication and
addition to predict the outcome of crosses
involving multiple characters
• A dihybrid or other multicharacter cross is
equivalent to two or more independent
monohybrid crosses occurring simultaneously
• In calculating the chances for various
genotypes, each character is considered
separately, and then the individual probabilities
are multiplied together

33. Binomial Expansion Equation
• Represents all of the possibilities for a given set of
unordered events
2-63Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
n!
x! (n – x)!
px
qn – x
• where
– p = probability that the unordered number of events will occur
– n = total number of events
– x = number of events in one category
– p = individual probability of x
– q = individual probability of the other category
P =

34. Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
• Note:
– p + q = 1
– The symbol ! denotes a factorial
• n! is the product of all integers from n down to 1
– 4! = 4 X 3 X 2 X 1 = 24
– An exception is 0! = 1
2-64
• Question
– Two heterozygous brown-eyed (Bb) individuals have
five children
– What is the probability that only two of the couple’s five
children will have blue eyes?

35. Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
• Applying the binomial expansion equation
– Step 1: Calculate the individual probabilities
• This can be obtained via a Punnett square
1/4P(blue eyes) = p =
3/4P(brown eyes) = q =
2-65
– Step 2: Determine the number of events
• n = total number of children = 5
• x = number of blue-eyed children = 2
– Step 3: Substitute the values for p, q, x, and n in the
binomial expansion equation

36. 2-66Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
• Therefore 26% of the time, a heterozygous couple’s
five children will contain two with blue eyes and
three with brown eyes
n!
x! (n – x)!
px
qn – xP =
5!
2! (5 – 2)!
(1/4)2
(3/4)5 – 2P =
5 X 4 X 3 X 2 X 1
(2 X 1) (3 X 2 X 1)
(1/16) (27/64)P =
P = 0.26 or 26%

37. 2. Imagine a locus with four different alleles for fur color in an
animal. The alleles are named Da
, Db
, Dc
, and Dd
. If you crossed
two heterozygotes, Da
Db
and Dc
Dd
, what genotype proportions
would you expect in the offspring?
a. 25% Da
Dc
, 25% Da
Dd
, 25% Db
Dc
, 25% Db
Dd
b. 50% Da
Db
, 50% Dc
Dd
c. 25% Da
Da
, 25% Db
Db
, 25% Dc
Dc
, 25% Dd
Dd
Dc
Dd
d. 50% Da
Dc
, 50% Db
Dd
e. 25% Da
Db
, 25% Dc
Dd
, 25% Dc
Dc
, 25% Dd
Dd

38. 2. Imagine a locus with four different alleles for fur color in an
animal. The alleles are named Da
, Db
, Dc
, and Dd
. If you crossed
two heterozygotes, Da
Db
and Dc
Dd
, what genotype proportions
would you expect in the offspring?
a. 25% Da
Dc
, 25% Da
Dd
, 25% Db
Dc
, 25% Db
Dd
b. 50% Da
Db
, 50% Dc
Dd
c. 25% Da
Da
, 25% Db
Db
, 25% Dc
Dc
, 25% Dd
Dd
Dc
Dd
d. 50% Da
Dc
, 50% Db
Dd
e. 25% Da
Db
, 25% Dc
Dd
, 25% Dc
Dc
, 25% Dd
Dd

39. 3. An individual with the genotype AaBbEeHH is crossed
with an individual who is aaBbEehh. What is the likelihood
of having offspring with the genotype AabbEEHh?
a. 1/8
b. 1/16
c. 1/32
d. 1/64
e. That genotype would be impossible.

40. 3. An individual with the genotype AaBbEeHH is crossed
with an individual who is aaBbEehh. What is the likelihood
of having offspring with the genotype AabbEEHh?
a. 1/8
b. 1/16
c. 1/32 ( ½ x ¼ x ¼ x 1)
d. 1/64
e. That genotype would be impossible.

41. Extending Mendelian Genetics for a
Single Gene
• Inheritance of characters by a single gene may
deviate from simple Mendelian patterns in the
following situations:
– When alleles are not completely dominant or
recessive
– When a gene has more than two alleles
– When a gene produces multiple phenotypes
Concept 14.3: Inheritance patterns are often more complex
than predicted by simple Mendelian genetics

42. The Spectrum of Dominance
• Complete dominance occurs when phenotypes
of the heterozygote and dominant homozygote
are identical
• In codominance, two dominant alleles affect the
phenotype in separate, distinguishable ways
• In incomplete dominance, the phenotype of F1
hybrids is somewhere between the phenotypes
of the two parental varieties

43. LE 14-10
Red
CR
CR
Gametes
P Generation
CR
CW
White
CW
CW
Pink
CR
CW
CRGametes CW
F1 Generation
F2 Generation Eggs
CR
CW
CR
CR
CR
CR
CW
CR
CW
CW
CW
CW
Sperm
1
2
1
2
1
2
1
2
1
2
1
2

44. The Relation Between Dominance and
Phenotype
• A dominant allele does not subdue a recessive
allele; alleles don’t interact
• Alleles are simply variations in a gene’s
nucleotide sequence
• For any character, dominance/recessiveness
relationships of alleles depend on the level at
which we examine the phenotype

45. • Tay-Sachs disease is fatal; a dysfunctional
enzyme causes an accumulation of lipids in
the brain
– At the organismal level, the allele is recessive
– At the biochemical level, the phenotype (i.e., the
enzyme activity level) is incompletely dominant
– At the molecular level, the alleles are codominant

46. Frequency of Dominant Alleles
• Dominant alleles are not necessarily more
common in populations than recessive alleles
• For example, one baby out of 400 in the United
States is born with extra fingers or toes
• The allele for this unusual trait is dominant to
the allele for the more common trait of five
digits per appendage
• In this example, the recessive allele is far more
prevalent than the dominant allele in the
population

47. Multiple Alleles
• Most genes exist in populations in more than
two allelic forms
• For example, the four phenotypes of the ABO
blood group in humans are determined by three
alleles for the enzyme (I) that attaches A or B
carbohydrates to red blood cells: IA
, IB
, and i.
• The enzyme encoded by the IA
allele adds the A
carbohydrate, whereas the enzyme encoded by
the IB
allele adds the B carbohydrate; the
enzyme encoded by the i allele adds neither

48. Figure 14.11
The three alleles for the ABO blood groups and their
carbohydrates
Blood group genotypes and phenotypes
Allele
Carbohydrate
Genotype
Red blood cell
appearance
Phenotype
(blood group)
A B AB O
iiIA
IB
IB
IB
IB
iororIA
IA
IA
i
IA
IB
i
(a)
(b)
A B none

49. Pleiotropy
• Most genes have multiple phenotypic effects, a
property called pleiotropy
• For example, pleiotropic alleles are responsible
for the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease
Extending Mendelian Genetics for Two or More Genes
• Some traits may be determined by two or more
genes

50. Epistasis
• In epistasis, a gene at one locus alters the
phenotypic expression of a gene at a second locus
• For example, in mice and many other mammals,
coat color depends on two genes
• One gene determines the pigment color (with
alleles B for black and b for brown)
• The other gene (with alleles C for pigment color
and c for no pigment color ) determines whether
the pigment will be deposited in the hair

51. BbEe BbEe
Sperm
Eggs
9 3 4::
BBEE
BbEE
BBEe
BbEe bbEe
BbEe
bbEE
BbEE BBEe
BbEe
BBee
Bbee bbee
Bbee
bbEe
BbEe
beBe1
4
1
4
1
4
1
4
1
4
1
4
1
4
1
4bEBE
BE
bE
Be
be

52. Polygenic Inheritance
• Quantitative characters are those that vary in
the population along a continuum
• Quantitative variation usually indicates
polygenic inheritance, an additive effect of two
or more genes on a single phenotype
• Skin color in humans is an example of polygenic
inheritance

53. Figure 14.13
Eggs
Sperm
AaBbCc AaBbCc
Phenotypes:
Number of
dark-skin alleles: 0 1 2 3 4 5 6
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
64
6
64
15
64
20
64
15
64
6
64
1
64
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8

54. Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
Nature and Nurture: The Environmental Impact
on Phenotype
• Another departure from Mendelian genetics
arises when the phenotype for a character
depends on environment as well as genotype
• The norm of reaction is the phenotypic range of
a genotype influenced by the environment
• For example, hydrangea flowers of the same
genotype range from blue-violet to pink,
depending on soil acidity

55. Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
Figure 14.14

56. • Norms of reaction are generally broadest for
polygenic characters
• Such characters are called multifactorial
because genetic and environmental factors
collectively influence phenotype

57. Concept 14.4: Pedigrees for Human
Traits
• Humans are not good subjects for genetic
research because generation time is too long;
parents produce relatively few offspring; and
breeding experiments are unacceptable
• A pedigree is a family tree that describes the
interrelationships of parents and children across
generations
• Inheritance patterns of particular traits can be
traced and described using pedigrees

58. Figure 14.15
Key
Male Female Affected
male
Affected
female
Mating
Offspring, in
birth order
(first-born on left)
ff FfFfFf
FF Ff ff ff Ff Ff ff
ff FF
Ff
or
or
No widow’s peak
1st generation
(grandparents)
2nd generation
(parents, aunts,
and uncles)
3rd generation
(two sisters)
(a) Is a widow’s peak a dominant or recessive trait?
(b) Is an attached earlobe a dominant
or recessive trait?
Attached earlobe Free earlobe
Wwww
wwWwWwWw ww ww
wwWw
Ww
WW
or
ww
Widow’s peak

59. • Pedigrees can also be used to make predictions
about future offspring
• We can use the multiplication and addition rules
to predict the probability of specific phenotypes

60. Recessively Inherited Disorders
• Many genetic disorders are inherited in a
recessive manner
• Recessively inherited disorders show up only in
individuals homozygous for the allele
• Carriers are heterozygous individuals who carry
the recessive allele but are phenotypically
normal
• Consanguineous matings (i.e., matings between
close relatives) increase the chance of mating
between two carriers of the same rare allele

61. Cystic Fibrosis
• Cystic fibrosis is the most common lethal
genetic disease in the United States, striking
one out of every 2,500 people of European
descent
• The cystic fibrosis allele results in defective or
absent chloride transport channels in plasma
membranes leading to a buildup of chloride ions
outside the cell
• Symptoms include mucus buildup in some
internal organs and abnormal absorption of
nutrients in the small intestine

62. Sickle-Cell Disease
• Sickle-cell disease affects one out of 400
African-Americans
• The disease is caused by the substitution of a
single amino acid in the hemoglobin protein in
red blood cells
• Symptoms include physical weakness, pain,
organ damage, and even paralysis
• Heterozygotes are less susceptible to the
malaria parasite, so there is an advantage to
being heterozygous in regions where malaria is
common

63. Figure 14.17Sickle-cell alleles
Low O2
Sickle-cell
hemoglobin
proteins
Sickled red
blood cells
Part of a fiber of
sickle-cell hemo-
globin proteins
Sickle-cell allele
Normal allele
Very low O2
Sickle-
cell
disease
Sickle-
cell
trait
Sickled and
normal red
blood cells
Part of a sickle-cell
fiber and normal
hemoglobin proteins
Sickle-cell and
normal hemo-
globin proteins
Homozygote with sickle-cell disease: Weakness, anemia, pain and fever,
organ damage
Heterozygote with sickle-cell trait: Some symptoms when blood oxygen is
very low; reduction of malaria symptoms
(a)
(b)

64. Dominantly Inherited Disorders
• Some human disorders are due to dominant
alleles
• One example is achondroplasia, a form of
dwarfism that is lethal when homozygous for
the dominant allele
Parents
Normal
dd
Dwarf
Dd
Sperm
Dd
Dwarf
Dd
Dwarf
dd
Normal
dd
Normal
d
d
dD

65. • Huntington’s disease is a degenerative disease
of the nervous system
• The disease has no obvious phenotypic effects
until about 35 to 40 years of age

66. 4. Imagine that the last step in a biochemical pathway to the red skin
pigment of an apple is catalyzed by enzyme X, which changes compound C
to compound D. If an effective enzyme is present, compound D is formed
and the apple skin is red because there is very little substrate relative to
enzyme in the cell. However, if the enzyme is not effective, only compound
C is present and the skin is yellow. What can you accurately say about a
heterozygote with one allele for an effective enzyme X and one allele for an
ineffective enzyme X?
a. The phenotype will probably be yellow
but cannot be red.
b. The phenotype will probably be red
but cannot be yellow.
c. The phenotype will be a yellowish red.
d. The phenotype will be either yellow or red.
e. The phenotype will be either yellowish
red or red.

67. 4. Imagine that the last step in a biochemical pathway to the red skin
pigment of an apple is catalyzed by enzyme X, which changes compound C
to compound D. If an effective enzyme is present, compound D is formed
and the apple skin is red because there is very little substrate relative to
enzyme in the cell. However, if the enzyme is not effective, only compound
C is present and the skin is yellow. What can you accurately say about a
heterozygote with one allele for an effective enzyme X and one allele for an
ineffective enzyme X?
a. The phenotype will probably be yellow
but cannot be red.
b. The phenotype will probably be red
but cannot be yellow.
c. The phenotype will be a yellowish red.
d. The phenotype will be either yellow or red.
e. The phenotype will be either yellowish
red or red. This could be the answer if the enzyme
amount was limited.

68. Genetic Testing and Counseling
Genetic counselors can
provide information to
prospective parents
concerned about a family
history for a specific disease

69. Fetal Testing
• In amniocentesis, the liquid that bathes the fetus is
removed and tested
• In chorionic villus sampling (CVS), a sample of the
placenta is removed and tested
• Other techniques, ultrasound and fetoscopy, allow
fetal health to be assessed visually in utero

70. Figure 14.19
(a) Amniocentesis (b) Chorionic villus sampling (CVS)
Ultrasound
monitor
Fetus
Placenta
Uterus Cervix
Amniotic
fluid
withdrawn
Karyotyping
Several
hours
Several
hours
Fetal cells
Cervix
Suction
tube
inserted
through
cervix
Ultrasound
monitor
Fetus
Placenta
Chorionic
villi
Uterus
Centrifugation
Several
hours
Several
weeks
Several
weeks
Biochemical
and genetic
tests
Fluid
Fetal
cells
1
2
3
2
1