Chapter 14 Mendel and the Gene Idea

Lecture Outline

Overview: Drawing from the Deck of Genes

 Every day we observe heritable variations (such as brown,
green, or blue eyes) among individuals in a population.
 These traits are transmitted from parents to offspring.
 One possible explanation for heredity is a “blending”
hypothesis.
 This hypothesis proposes that genetic material contributed by
each parent mixes in a manner analogous to the way blue and
yellow paints blend to make green.
 With blending inheritance, a freely mating population will
eventually give rise to a uniform population of individuals.
 Everyday observations and the results of breeding experiments
tell us that heritable traits do not blend to become uniform.
 An alternative model, “particulate” inheritance, proposes that
parents pass on discrete heritable units, genes, that retain their
separate identities in offspring.
 Genes can be sorted and passed on, generation after
generation, in undiluted form.
 Modern genetics began in an abbey garden, where a monk
named Gregor Mendel documented a particulate mechanism of
inheritance.

Concept 14.1 Mendel used the scientific approach to identify two

laws of inheritance
 Mendel discovered the basic principles of heredity by breeding
garden peas in carefully planned experiments.
 Mendel grew up on a small farm in what is today the Czech
Republic.
 In 1843, Mendel entered an Augustinian monastery.
 He studied at the University of Vienna from 1851 to 1853,
where he was influenced by a physicist who encouraged
experimentation and the application of mathematics to science and
by a botanist who stimulated Mendel’s interest in the causes of
variation in plants.
 These influences came together in Mendel’s experiments.
 After university, Mendel taught at the Brunn Modern School and
lived in the local monastery.
 The monks at this monastery had a long tradition of interest in
the breeding of plants, including peas.
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  Around 1857, Mendel began breeding garden peas to study
inheritance.
 Pea plants have several advantages for genetic study.
 Pea plants are available in many varieties with distinct heritable
features, or characters, with different variant traits.
 Mendel could strictly control which plants mated with which.
 Each pea plant has male (stamens) and female (carpal) sexual
organs.
 In nature, pea plants typically self-fertilize, fertilizing ova with
the sperm nuclei from their own pollen.
 However, Mendel could also use pollen from another plant for
cross-pollination.
 Mendel tracked only those characters that varied in an “either-
or” manner, rather than a “more-or-less” manner.
 For example, he worked with flowers that were either purple or
white.
 He avoided traits, such as seed weight, that varied on a
continuum.
 Mendel started his experiments with varieties that were true-
breeding.
 When true-breeding plants self-pollinate, all their offspring have
the same traits.
 In a typical breeding experiment, Mendel would cross-pollinate
(hybridize) two contrasting, true-breeding pea varieties.
 The true-breeding parents are the P generation, and their
hybrid offspring are the F1 generation.
 Mendel would then allow the F1 hybrids to self-pollinate to
produce an F2 generation.
 It was mainly Mendel’s quantitative analysis of F2 plants that
revealed two fundamental principles of heredity: the law of
segregation and the law of independent assortment.
By the law of segregation, the two alleles for a character are
separated during the formation of gametes.
 If the blending model was correct, the F1 hybrids from a cross
between purple-flowered and white-flowered pea plants would
have pale purple flowers.
 Instead, F1 hybrids all have purple flowers, just as purple as
their purple-flowered parents.
 When Mendel allowed the F1 plants to self-fertilize, the F2
generation included both purple-flowered and white-flowered
plants.
 The white trait, absent in the F1, reappeared in the F2.
 Mendel used very large sample sizes and kept accurate records
of his results.

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  Mendel recorded 705 purple-flowered F2 plants and 224 white-
flowered F2 plants.
 This cross produced a traits ratio of three purple to one white in
the F2 offspring.
 Mendel reasoned that the heritable factor for white flowers was
present in the F1 plants, but did not affect flower color.
 Purple flower color is a dominant trait, and white flower color is
a recessive trait.
 The reappearance of white-flowered plants in the F2 generation
indicated that the heritable factor for the white trait was not diluted
or “blended” by coexisting with the purple-flower factor in F1
hybrids.
 Mendel found similar 3-to-1 ratios of two traits among F2
offspring when he conducted crosses for six other characters,
each represented by two different traits.
 For example, when Mendel crossed two true-breeding varieties,
one producing round seeds and the other producing wrinkled
seeds, all the F1 offspring had round seeds.
 In the F2 plants, 75% of the seeds were round and 25% were
wrinkled.
 Mendel developed a hypothesis to explain these results that
consisted of four related ideas. We will explain each idea with the
modern understanding of genes and chromosomes.
1. Alternative versions of genes account for variations in
inherited characters.
 The gene for flower color in pea plants exists in two versions,
one for purple flowers and one for white flowers.
 These alternate versions are called alleles.
 Each gene resides at a specific locus on a specific
chromosome.
 The DNA at that locus can vary in its sequence of nucleotides.
 The purple-flower and white-flower alleles are two DNA
variations at the flower-color locus.
2. For each character, an organism inherits two alleles, one
from each parent.
 A diploid organism inherits one set of chromosomes from each
parent.
 Each diploid organism has a pair of homologous chromosomes
and, therefore, two copies of each gene.
 These homologous loci may be identical, as in the true-
breeding plants of the P generation.
 Alternatively, the two alleles may differ.
3. If the two alleles at a locus differ, then one, the dominant
allele, determines the organism’s appearance. The other, the
recessive allele, has no noticeable effect on the organism’s
appearance.

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  In the flower-color example, the F1 plants inherited a purple-
flower allele from one parent and a white-flower allele from the
other.
 They had purple flowers because the allele for that trait is
dominant.
4. 4. Mendel’s law of segregation states that the two alleles
for a heritable character separate and segregate during gamete
production and end up in different gametes.
 This segregation of alleles corresponds to the distribution of
homologous chromosomes to different gametes in meiosis.
 If an organism has two identical alleles for a particular
character, then that allele is present as a single copy in all
gametes.
 If different alleles are present, then 50% of the gametes will
receive one allele and 50% will receive the other.
 Mendel’s law of segregation accounts for the 3:1 ratio that he
observed in the F2 generation.
 The F1 hybrids produce two classes of gametes, half with the
purple-flower allele and half with the white-flower allele.
 During self-pollination, the gametes of these two classes unite
randomly.
 This produces four equally likely combinations of sperm and
ovum.
 A Punnett square predicts the results of a genetic cross
between individuals of known genotype.
 Let us describe a Punnett square analysis of the flower-color
example.
 We will use a capital letter to symbolize the dominant allele and
a lowercase letter to symbolize the recessive allele.
 P is the purple-flower allele, and p is the white-flower allele.
 What will be the physical appearance of the F2 offspring?
 One in four F2 offspring will inherit two white-flower alleles and
produce white flowers.
 Half of the F2 offspring will inherit one white-flower allele and
one purple-flower allele and produce purple flowers.
 One in four F2 offspring will inherit two purple-flower alleles and
produce purple flowers.
 Mendel’s model accounts for the 3:1 ratio in the F2 generation.
 An organism with two identical alleles for a character is
homozygous for that character.
 Organisms with two different alleles for a character is
heterozygous for that character.
 An organism’s traits are called its phenotype.
 Its genetic makeup is called its genotype.
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 Two organisms can have the same phenotype but have
different genotypes if one is homozygous dominant and the
other is heterozygous.
 For flower color in peas, the only individuals with white flowers
are those that are homozygous recessive (pp) for the flower-color
gene.
 However, PP and Pp plants have the same phenotype (purple
flowers) but different genotypes (homozygous dominant and
heterozygous).
 How can we tell the genotype of an individual with the dominant
phenotype?
 The organism must have one dominant allele, but could be
homozygous dominant or heterozygous.
 The answer is to carry out a testcross.
 The mystery individual is bred with a homozygous recessive
individual.
 If any of the offspring display the recessive phenotype, the
mystery parent must be heterozygous.
By the law of independent assortment, each pair of alleles
segregates independently into gametes.
 Mendel’s first experiments followed only a single character,
such as flower color.
 All F1 progeny produced in these crosses were monohybrids,
heterozygous for one character.
 A cross between two heterozygotes is a monohybrid cross.
 Mendel identified the second law of inheritance by following two
characters at the same time.
 In one such dihybrid cross, Mendel studied the inheritance of
seed color and seed shape.
 The allele for yellow seeds (Y) is dominant to the allele for
green seeds (y).
 The allele for round seeds (R) is dominant to the allele for
wrinkled seeds (r).
 Mendel crossed true-breeding plants that had yellow, round
seeds (YYRR) with true-breeding plants that has green, wrinkled
seeds (yyrr).
 One possibility is that the two characters are transmitted from
parents to offspring as a package.
 The Y and R alleles and y and r alleles stay together.
 If this were the case, the F1 offspring would produce yellow,
round seeds.
 The F2 offspring would produce two phenotypes (yellow +
round; green + wrinkled) in a 3:1 ratio, just like a monohybrid
cross.
 This was not consistent with Mendel’s results.
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  An alternative hypothesis is that the two pairs of alleles
segregate independently of each other.
 The presence of a specific allele for one trait in a gamete has
no impact on the presence of a specific allele for the second
trait.
 In our example, the F1 offspring would still produce yellow,
round seeds.
 However, when the F1s produced gametes, genes would be
packaged into gametes with all possible allelic combinations.
 Four classes of gametes (YR, Yr, yR, and yr) would be
produced in equal amounts.
 When sperm with four classes of alleles and ova with four
classes of alleles combined, there would be 16 equally probable
ways in which the alleles can combine in the F2 generation.
 These combinations produce four distinct phenotypes in a
9:3:3:1 ratio.
 This was consistent with Mendel’s results.
 Mendel repeated the dihybrid cross experiment for other pairs
of characters and always observed a 9:3:3:1 phenotypic ratio in
the F2 generation.
 Each character appeared to be inherited independently.
 If you follow just one character in these crosses, you will
observe a 3:1 F2 ratio, just as if this were a monohybrid cross.
 The independent assortment of each pair of alleles during
gamete formation is now called Mendel’s law of independent
assortment.
 Mendel’s law of independent assortment states that each pair
of alleles segregates independently during gamete formation.
 Strictly speaking, this law applies only to genes located on
different, nonhomologous chromosomes.
 Genes located near each other on the same chromosome tend
to be inherited together and have more complex inheritance
patterns than those predicted for the law of independent
assortment.

Concept 14.2 The laws of probability govern Mendelian

inheritance
 Mendel’s laws of segregation and independent assortment
reflect the same laws of probability that apply to tossing coins or
rolling dice.
 The probability scale ranges from 0 (an event with no chance of
occurring) to 1 (an event that is certain to occur).
 The probability of tossing heads with a normal coin is 1/2.

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  The probability of rolling a 3 with a six-sided die is 1/6, and the
probability of rolling any other number is 1 − 1/6 = 5/6.
 When tossing a coin, the outcome of one toss has no impact on
the outcome of the next toss.
 Each toss is an independent event, just like the distribution of
alleles into gametes.
 Like a coin toss, each ovum from a heterozygous parent has a
1/2 chance of carrying the dominant allele and a 1/2 chance of
carrying the recessive allele.
 The same odds apply to the sperm.
 We can use the multiplication rule to determine the chance that
two or more independent events will occur together in some
specific combination.
 Compute the probability of each independent event.
 Multiply the individual probabilities to obtain the overall
probability of these events occurring together.
 The probability that two coins tossed at the same time will land
heads up is 1/2 × 1/2 = 1/4.
 Similarly, the probability that a heterozygous pea plant (Pp) will
self-fertilize to produce a white-flowered offspring (pp) is the
chance that a sperm with a white allele will fertilize an ovum
with a white allele.
 This probability is 1/2 × 1/2 = 1/4.
 The rule of multiplication also applies to dihybrid crosses.
 For a heterozygous parent (YyRr) the probability of producing a
YR gamete is 1/2 × 1/2 = 1/4.
 We can use this to predict the probability of a particular F2
genotype without constructing a 16-part Punnett square.
 The probability that an F2 plant from heterozygous parents will
have a YYRR genotype is 1/16 (1/4 chance for a YR ovum and
1/4 chance for a YR sperm).
 The rule of addition also applies to genetic problems.
 Under the rule of addition, the probability of an event that can
occur two or more different ways is the sum of the separate
probabilities of those ways.
 For example, there are two ways that F1 gametes can combine
to form a heterozygote.
 The dominant allele could come from the sperm and the
recessive from the ovum (probability = 1/4).
 Or the dominant allele could come from the ovum and the
recessive from the sperm (probability = 1/4).
 The probability of obtaining a heterozygote is 1/4 + 1/4 = 1/2.
 We can combine the rules of multiplication and addition to solve
complex problems in Mendelian genetics.

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  Let’s determine the probability of an offspring having two
recessive phenotypes for at least two of three traits resulting from
a trihybrid cross between pea plants that are PpYyRr and Ppyyrr.
 There are five possible genotypes that fulfill this condition:
ppyyRr, ppYyrr, Ppyyrr, PPyyrr, and ppyyrr.
 We can use the rule of multiplication to calculate the probability
for each of these genotypes and then use the rule of addition to
pool the probabilities for fulfilling the condition of at least two
recessive traits.
 The probability of producing a ppyyRr offspring:
 The probability of producing pp = 1/2 × 1/2 = 1/4.
 The probability of producing yy = 1/2 × 1 = 1/2.
 The probability of producing Rr = 1/2 × 1 = 1/2.
 Therefore, the probability of all three being present (ppyyRr) in
one offspring is 1/4 × 1/2 × 1/2 = 1/16.
 For ppYyrr: 1/4 × 1/2 × 1/2 = 1/16.
 For Ppyyrr: 1/2 × 1/2 × 1/2 = 1/8 or 2/16.
 For PPyyrr: 1/4 × 1/2 × 1/2 = 1/16.
 For ppyyrr: 1/4 × 1/2 × 1/2 = 1/16.
 Therefore, the chance that a given offspring will have at least
two recessive traits is 1/16 + 2/16 + 1/16 + 1/16 = 6/16.
Mendel discovered the particulate behavior of genes: a review.
 While we cannot predict with certainty the genotype or
phenotype of any particular seed from the F2 generation of a
dihybrid cross, we can predict the probability that it will have a
specific genotype or phenotype.
 Mendel’s experiments succeeded because he counted so many
offspring, was able to discern the statistical nature of inheritance,
and had a keen sense of the rules of chance.
 Mendel’s laws of independent assortment and segregation
explain heritable variation in terms of alternative forms of genes
that are passed along according to simple rules of probability.
 These laws apply not just to garden peas, but to all diploid
organisms that reproduce by sexual reproduction.
 Mendel’s studies of pea inheritance endure not only in genetics,
but as a case study of the power of scientific reasoning using the
hypothetico-deductive approach.

Concept 14.3 Inheritance patterns are often more complex than

predicted by simple Mendelian genetics
 In the 20th century, geneticists have extended Mendelian
principles not only to diverse organisms, but also to patterns of
inheritance more complex than Mendel described.
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  In fact, Mendel had the good fortune to choose a system that
was relatively simple genetically.
 Each character that Mendel studied is controlled by a single
gene.
 Each gene has only two alleles, one of which is completely
dominant to the other.
 The heterozygous F1 offspring of Mendel’s crosses always
looked like one of the parental varieties because one allele was
dominant to the other.
 The relationship between genotype and phenotype is rarely so
simple.
 The inheritance of characters determined by a single gene
deviates from simple Mendelian patterns when alleles are not
completely dominant or recessive, when a gene has more than
two alleles, or when a gene produces multiple phenotypes.
 We will consider examples of each of these situations.
 Alleles show different degrees of dominance and recessiveness
in relation to each other.
 One extreme is the complete dominance characteristic of
Mendel’s crosses.
 At the other extreme from complete dominance is
codominance, in which two alleles affect the phenotype in
separate, distinguishable ways.
 For example, the M, N, and MN blood groups of humans are
due to the presence of two specific molecules on the surface of
red blood cells.
 People of group M (genotype MM) have one type of molecule
on their red blood cells, people of group N (genotype NN) have
the other type, and people of group MN (genotype MN) have
both molecules present.
 The MN phenotype is not intermediate between M and N
phenotypes but rather exhibits both the M and the N phenotype.
 Some alleles show incomplete dominance, in which
heterozygotes show a distinct intermediate phenotype not seen in
homozygotes.
 This is not blending inheritance because the traits are
separable (particulate), as shown in further crosses.
 Offspring of a cross between heterozygotes show three
phenotypes: each parental and the heterozygote.
 The phenotypic and genotypic ratios are identical: 1:2:1.
 A clear example of incomplete dominance is seen in flower
color of snapdragons.
 A cross between a white-flowered plant and a red-flowered
plant will produce all pink F1 offspring.
 Self-pollination of the F1 offspring produces 25% white, 25%
red, and 50% pink F2 offspring.
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  The relative effects of two alleles range from complete
dominance of one allele, through incomplete dominance of either
allele, to codominance of both alleles.
 It is important to recognize that a dominant allele does not
somehow subdue a recessive allele.
 Alleles are simply variations in a gene’s nucleotide sequence.
 When a dominant allele coexists with a recessive allele in a
heterozygote, they do not interact at all.
 To illustrate the relationship between dominance and
phenotype, let us consider Mendel’s character of round versus
wrinkled pea seed shape.
 Pea plants with wrinkled seeds have two copies of the
recessive allele.
 The seeds are wrinkled due to the accumulation of
monosaccharides because of the lack of a key enzyme that
converts them to starch.
 Excess water enters the seed due to the accumulation of
monosaccharides.
 The seeds wrinkle when the excess water dries.
 Both homozygous dominants and heterozygotes produce
enough enzymes to convert all the monosaccharides into
starch.
 As a result, they do not fill with excess water and form smooth
seeds as they dry.
 For any character, dominance/recessiveness relationships
depend on the level at which we examine the phenotype.
 For example, humans with Tay-Sachs disease lack a
functioning enzyme to metabolize certain lipids. These lipids
accumulate in the brain, harming brain cells, and ultimately
leading to death.
 Children with two Tay-Sachs alleles (homozygotes) have the
disease.
 Both heterozygotes with one working allele and homozygotes
with two working alleles are healthy and normal at the
organismal level.
 The activity level of the lipid-metabolizing enzyme is reduced in
heterozygotes. At the biochemical level, the alleles show
incomplete dominance.
 Heterozygous individuals produce equal numbers of normal
and dysfunctional enzyme molecules. At the molecular level,
the Tay-Sachs and functional alleles are codominant.
 A dominant allele is not necessarily more common in a
population than the recessive allele.
 For example, one baby in 400 is born with polydactyly, a
condition in which individuals are born with extra fingers or
toes.
 Polydactyly is due to a dominant allele.
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  However, the recessive allele is far more prevalent than the
dominant allele.
 399 individuals out of 400 have five digits per appendage.
 Many genes exist in populations in more than two allelic forms.
 The ABO blood groups in humans are determined by three
alleles, IA, IB, and i.
 Both the IA and IB alleles are dominant to the i allele.
 The IA and IB alleles are codominant to each other.
 Because each individual carries two alleles, there are six
possible genotypes and four possible blood types.
 Individuals that are IAIA or IAi are type A and have type A
carbohydrates on the surface of their red blood cells.
 Individuals that are IBIB or IBi are type B and have type B
carbohydrates on the surface of their red blood cells.
 Individuals that are IAIB are type AB and have both type A and
type B carbohydrates on the surface of their red blood cells.
 Individuals that are ii are type O and have neither carbohydrate
on the surface of their red blood cells.
 Matching compatible blood groups is critical for blood
transfusions because a person produces antibodies against
foreign blood factors.
 If the donor’s blood has an A or B carbohydrate that is foreign
to the recipient, antibodies in the recipient’s blood will bind to
the foreign molecules, cause the donated blood cells to clump
together, and can kill the recipient.
 The genes that we have covered so far affect only one
phenotypic character.
 However, most genes are pleiotropic, affecting more than one
phenotypic character.
 For example, the wide-ranging symptoms of sickle-cell disease
are due to a single gene.
 Considering the intricate molecular and cellular interactions
responsible for an organism’s development, it is not surprising that
a gene can affect a number of characteristics.
 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, the epistatic gene, determines whether pigment will be
deposited in hair or not.
 Presence (C) is dominant to absence (c) of pigment.
 The second gene determines whether the pigment to be
deposited is black (B) or brown (b).
 The black allele is dominant to the brown allele.
 An individual that is cc has a white (albino) coat regardless of
the genotype of the second gene.
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  A cross between two black mice that are heterozygous (BbCc)
will follow the law of independent assortment.
 However, unlike the 9:3:3:1 offspring ratio of a normal
Mendelian experiment, the offspring ratio is nine black, three
brown, and four white.
 All cc mice will be albino, regardless of the alleles they inherit at
the B gene.
 Some characters cannot be classified as either-or, as Mendel’s
genes were.
 Quantitative characters vary in a population along a
continuum.
 These are usually due to polygenic inheritance, the additive
effects of two or more genes on a single phenotypic character.
 For example, skin color in humans is controlled by at least three
independent genes.
 Imagine that each gene has two alleles, one light and one dark,
which demonstrate incomplete dominance.
 An AABBCC individual is very dark; an aabbcc individual is very
light.
 A cross between two AaBbCc individuals (with intermediate
skin shade) will produce offspring covering a wide range of
shades.
 Individuals with intermediate skin shades will be most common,
but some very light and very dark individuals could be produced
as well.
 The range of phenotypes will form a normal distribution, if the
number of offspring is great enough.
 Phenotype depends on environment and genes.
 A person becomes darker if they tan, despite their inherited skin
color.
 A single tree may have leaves that vary in size, shape, and
greenness, depending on exposure to wind and sun.
 For humans, nutrition influences height, exercise alters build,
sun-tanning darkens skin, and experience improves
performance on intelligence tests.
 Even identical twins, who are genetically identical, accumulate
phenotypic differences as a result of their unique experiences.
 The relative importance of genes and the environment in
influencing human characteristics is a very old and hotly contested
debate.
 The product of a genotype is generally not a rigidly defined
phenotype, but a range of phenotypic possibilities, the norm of
reaction, that are determined by the environment.
 In some cases, the norm of reaction has no breadth, and a
given genotype specifies a particular phenotype (for example,
blood type).
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  In contrast, a person’s red and white blood cell count varies
with factors such as altitude, customary exercise level, and
presence of infection.
 Norms of reaction are broadest for polygenic characters.
 For these multifactorial characters, environment contributes
to their quantitative nature.
 A reductionist emphasis on single genes and single phenotypic
characters presents an inadequate perspective on heredity and
variation.
 A more comprehensive theory of Mendelian genetics must view
organisms as a whole.
 The term phenotype can refer not only to specific characters
such as flower color or blood group, but also to an organism in its
entirety, including all aspects of its physical appearance.
 Genotype can refer not just to a single genetic locus, but also to
an organism’s entire genetic makeup.
 An organism’s phenotype reflects its overall genotype and its
unique environmental history.

Concept 14.4 Many human traits follow Mendelian patterns of

inheritance
 While peas are convenient subjects for genetic research,
humans are not.
 The generation time is too long, fecundity is too low, and
breeding experiments are unacceptable.
 Yet humans are subject to the same rules governing
inheritance as other organisms.
 New techniques in molecular biology have led to many
breakthrough discoveries in the study of human genetics.
Pedigree analysis reveals Mendelian patterns in human
inheritance.
 Rather than manipulate mating patterns of people, geneticists
analyze the results of matings that have already occurred.
 In a pedigree analysis, information about the presence or
absence of a particular phenotypic trait is collected from as many
individuals in a family as possible, across generations.
 The distribution of these characters is then mapped on the
family tree.
 For example, the occurrence of widow’s peak (W) is dominant
to a straight hairline (w).
 Phenotypes of family members and knowledge of
dominant/recessive relations between alleles allow researchers
to predict the genotypes of members of this family.
Lecture Outline for Campbell/Reece Biology, 7th Edition, © Pearson Education, Inc. 14-13
  For example, if an individual in the third generation lacks a
widow’s peak, but both her parents have widow’s peaks, then
her parents must be heterozygous for that gene.
 If some siblings in the second generation lack a widow’s peak
and one of the grandparents (first generation) also lacks one,
then we know the other grandparent must be heterozygous,
and we can determine the genotype of many other individuals.
 We can use the same family tree to trace the distribution of
attached earlobes (f), a recessive characteristic.
 Individuals with a dominant allele (F) have free earlobes.
 Some individuals may be ambiguous, especially if they have
the dominant phenotype and could be heterozygous or
homozygous dominant.
 A pedigree can help us understand the past and predict the
future.
 We can use normal Mendelian rules, including multiplication
and addition, to predict the probability of specific phenotypes.
 For example, these rules could be used to predict the
probability that a child with WwFf parents will have a widow’s
peak and attached earlobes.
 The chance of having a widow’s peak is 3/4 (1/2 [WW] + 1/4
[Ww]).
 The chance of having attached earlobes is 1/4 [ff].
 This combination has a probability of 3/4 × 1/4 = 3/16.
Many human disorders follow Mendelian patterns of
inheritance.
 Thousands of genetic disorders, including disabling or deadly
hereditary diseases, are inherited as simple recessive traits.
 These conditions range from relatively mild (albinism) to life-
threatening (cystic fibrosis).
 The recessive behavior of the alleles causing these conditions
occurs because the allele codes for a malfunctioning protein or for
no protein at all.
 Heterozygotes have a normal phenotype because one normal
allele produces enough of the required protein.
 A recessively inherited disorder shows up only in homozygous
individuals who inherit a recessive allele from each parent.
 Individuals who lack the disorder are either homozygous
dominant or heterozygotes.
 While heterozygotes may lack obvious phenotypic effects, they
are carriers who may transmit a recessive allele to their offspring.
 Most people with recessive disorders are born to carriers with
normal phenotypes.

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  Two carriers have a 1/4 chance of having a child with the
disorder, 1/2 chance of having a child who is a carrier, and 1/4
chance of having a child without a defective allele.
 Genetic disorders are not evenly distributed among all groups
of humans.
 This results from the different genetic histories of the world’s
people during times when populations were more geographically
and genetically isolated.
 Cystic fibrosis strikes one of every 2,500 whites of European
descent.
 One in 25 people of European descent is a carrier for this
condition.
 The normal allele−for this gene codes for a membrane protein
that transports Cl between cells and extracellular fluid.
 If these channels are defective or absent, there are abnormally
high extracellular levels of chloride.
 This causes the mucus coats of certain cells to become thicker
and stickier than normal.
 This mucus buildup in the pancreas, lungs, digestive tract, and
elsewhere causes poor absorption of nutrients, chronic
bronchitis, and bacterial infections.
 Without treatment, affected children die before five, but with
treatment, they can live past their late 20s or even 30s.
 Tay-Sachs disease is another lethal recessive disorder.
 It is caused by a dysfunctional enzyme that fails to break down
specific brain lipids.
 The symptoms begin with seizures, blindness, and
degeneration of motor and mental performance a few months
after birth.
 Inevitably, the child dies after a few years.
 Among Ashkenazic Jews (those from central Europe), this
disease occurs in one of 3,600 births, about 100 times greater
than the incidence among non-Jews or Mediterranean
(Sephardic) Jews.
 The most common inherited disease among people of African
descent is sickle-cell disease, which affects one of 400 African-
Americans.
 Sickle-cell disease is caused by the substitution of a single
amino acid in hemoglobin.
 When oxygen levels in the blood of an affected individual are
low, sickle-cell hemoglobin aggregate into long rods that deform
red blood cells into a sickle shape.
 This sickling creates a cascade of symptoms, demonstrating
the pleiotropic effects of this allele, as sickled cells clump and
clog capillaries throughout the body.
 Doctors can use regular blood transfusions to prevent brain
damage and new drugs to prevent or treat other problems.
Lecture Outline for Campbell/Reece Biology, 7th Edition, © Pearson Education, Inc. 14-15
  At the organismal level, the nonsickle allele is incompletely
dominant to the sickle-cell allele.
 Carriers are said to have sickle-cell trait.
 These individuals are usually healthy, although some suffer
some symptoms of sickle-cell disease under blood oxygen
stress.
 At the molecular level, the two alleles are codominant as both
normal and abnormal (sickle-cell) hemoglobins are synthesized.
 About one in ten African-Americans has sickle-cell trait.
 The high frequency of heterozygotes is unusual for an allele
with severe detrimental effects in homozygotes.
 Individuals with one sickle-cell allele have increased resistance
to malaria, a parasite that spends part of its life cycle in red
blood cells.
 In tropical Africa, where malaria is common, the sickle-cell allele
is both a boon and a bane.
 Homozygous normal individuals die of malaria and
homozygous recessive individuals die of sickle-cell disease,
while carriers are relatively free of both.
 The relatively high frequency of sickle-cell trait in African-
Americans is a vestige of their African roots.
 Normally it is relatively unlikely that two carriers of the same
rare, harmful allele will meet and mate.
 However, consanguineous matings between close relatives
increase the risk.
 Individuals who share a recent common ancestor are more
likely to carry the same recessive alleles.
 Most societies and cultures have laws or taboos forbidding
marriages between close relatives.
 Although most harmful alleles are recessive, a number of
human disorders are due to dominant alleles.
 For example, achondroplasia, a form of dwarfism, has an
incidence of one case in 25,000 people.
 Heterozygous individuals have the dwarf phenotype.
 Those who are not achondroplastic dwarfs, 99.99% of the
population, are homozygous recessive for this trait.
 This provides another example of a trait for which the recessive
allele is far more prevalent than the dominant allele.
 Lethal dominant alleles are much less common than lethal
recessives.
 If a lethal dominant kills an offspring before it can mature and
reproduce, the allele will not be passed on to future
generations.
 In contrast, a lethal recessive allele can be passed on by
heterozygous carriers who have normal phenotypes.
Lecture Outline for Campbell/Reece Biology, 7th Edition, © Pearson Education, Inc. 14-16
  A lethal dominant allele can escape elimination if it causes
death at a relatively advanced age, after the individual has already
passed on the lethal allele to his or her children.
 One example is Huntington’s disease, a degenerative disease
of the nervous system.
 The dominant lethal allele has no obvious phenotypic effect
until an individual is about 35 to 45 years old.
 The deterioration of the nervous system is irreversible and
inevitably fatal.
 Any child born to a parent who has the allele for Huntington’s
disease has a 50% chance of inheriting the disease and the
disorder.
 In the United States, this devastating disease afflicts one in
10,000 people.
 Recently, molecular geneticists have used pedigree analysis of
affected families to track the Huntington’s allele to a locus near the
tip of chromosome 4.
 This has led to the development of a test that can detect the
presence of the Huntington’s allele in an individual’s genome.
 While some diseases are inherited in a simple Mendelian
fashion due to alleles at a single locus, many other disorders have
a multifactorial basis.
 These may have a genetic component plus a significant
environmental influence.
 Multifactorial disorders include heart disease; diabetes; cancer;
alcoholism; and certain mental illnesses, such as schizophrenia
and manic-depressive disorder.
 The genetic component of such disorders is typically polygenic.
 At present, little is understood about the genetic contribution to
most multifactorial diseases.
 The best public health strategy is education about relevant
environmental factors and promotion of healthy behavior.
Technology is providing new tools for genetic testing and
counseling.
 A preventive approach to simple Mendelian disorders is
sometimes possible.
 The risk that a particular genetic disorder will occur can
sometimes be assessed before a child is conceived or early in
pregnancy.
 Many hospitals have genetic counselors to provide information
to prospective parents who are concerned about a family history of
a specific disease.
 Consider a hypothetical couple, John and Carol, who are
planning to have their first child.

Lecture Outline for Campbell/Reece Biology, 7th Edition, © Pearson Education, Inc. 14-17
  In both of their families’ histories, a recessive lethal disorder is
present. Both John and Carol had brothers who died of the
disease.
 While not one of John, Carol, or their parents have the disease,
their parents must have been carriers (Aa × Aa).
 John and Carol each have a 2/3 chance of being carriers and a
1/3 chance of being homozygous dominant.
 The probability that their first child will have the disease is 2/3
(chance that John is a carrier) × 2/3 (chance that Carol is a
carrier) × 1/4 (chance that the offspring of two carriers is
homozygous recessive) = 1/9.
 If their first child is born with the disease, we know that John
and Carol’s genotype must be Aa and they are both carriers.
 In that case, the chance that their next child will also have the
disease is 1/4.
 Mendel’s laws are simply the rules of probability applied to
heredity.
 Because chance has no memory, the genotype of each child is
unaffected by the genotypes of older siblings.
 The chance that John and Carol’s first three children will have
the disorder is 1/4 × 1/4 × 1/4 = 1/64. Should that outcome
happen, the likelihood that a fourth child will also have the
disorder is still 1/4.
 Because most children with recessive disorders are born to
parents with a normal phenotype, the key to assessing risk is
identifying whether prospective parents are carriers of the
recessive trait.
 Recently developed tests for several disorders can distinguish
normal phenotypes in heterozygotes from homozygous dominants.
 These results allow individuals with a family history of a genetic
disorder to make informed decisions about having children.
 However, issues of confidentiality, discrimination, and
counseling may arise.
 Tests are also available to determine in utero if a child has a
particular disorder.
 One technique, amniocentesis, can be used from the 14th to
16th week of pregnancy to assess whether the fetus has a specific
disease.
 Fetal cells extracted from amniotic fluid are cultured and
karyotyped to identify some disorders.
 Other disorders can be identified from chemicals in the amniotic
fluids.
 A second technique, chorionic villus sampling (CVS) allows
faster karyotyping and can be performed as early as the eighth to
tenth week of pregnancy.
 This technique extracts a sample of fetal tissue from the
chorionic villi of the placenta.
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  This technique is not suitable for tests requiring amniotic fluid.
 Other techniques, ultrasound and fetoscopy, allow fetal health
to be assessed visually in utero.
 Both fetoscopy and amniocentesis cause complications such as
maternal bleeding or fetal death in about 1% of cases.
 Therefore, these techniques are usually reserved for cases in
which the risk of a genetic disorder or other type of birth defect
is relatively great.
 If fetal tests reveal a serious disorder, the parents face the
difficult choice of terminating the pregnancy or preparing to care
for a child with a genetic disorder.
 Some genetic traits can be detected at birth by simple tests that
are now routinely performed in hospitals.
 One test can detect the presence of a recessively inherited
disorder, phenylketonuria (PKU).
 This disorder occurs in one in 10,000 to 15,000 births.
 Individuals with this disorder accumulate the amino acid
phenylalanine and its derivative phenylpyruvate in the blood to
toxic levels.
 This leads to mental retardation.
 If the disorder is detected, a special diet low in phenylalanine
usually promotes normal development.
 Unfortunately, few other genetic diseases are so treatable.

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