Chapter 12 | Inheritance

12| INHERITANCE

Figure 12.1 Newborn A single fertilized egg develops over the span of nine months into an infant consisting of trillions
of cells and capable of surviving outside the womb. (credit: “Seattleye”/[Link])

Introduction
Chapter Objectives

After studying this chapter, you will be able to:

• Meiosis
• Errors in Meiosis
• Classify and describe the different patterns of inheritance

The ability to reproduce is a basic characteristic of all living things. Sexual reproduction is the production by parents of
haploid cells via specialized cell division called Meiosis. The haploid cells with chromosome complement of ‘n’ from
mother (egg) and from father (sperm) fuse to form a single diploid cell (2n). Sexual reproduction, specifically meiosis and
fertilization, introduces variation into offspring that may account for the evolutionary success of sexual reproduction.

After fertilization in approximately nine months, a single cell—a fertilized egg—develops into a fully formed infant consisting
of trillions of cells (via mitosis) with myriad specialized functions. The dramatic changes of fertilization, embryonic
development, and fetal development are followed by remarkable adaptations of the newborn to life outside the womb. The

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entire process is governed by the genetic material inherited from the parental egg and sperm, as well as environmental factors.

12.1| Meiosis
By the end of this section, you will be able to:
• Describe the behavior of chromosomes during meiosis
• Describe cellular events during meiosis
• Explain the differences between meiosis and mitosis
• Explain the mechanisms within meiosis that generate genetic variation among the products of meiosis

Sexual reproduction requires fertilization, a union of two cells from two individuals. If those two cells each contain one set
of chromosomes, then the resulting cell contains two sets of chromosomes. The number of sets of chromosomes in a cell is
called its ploidy level. Haploid cells contain one set of chromosomes (‘n’ from the previous chapter). Cells containing two
sets of chromosomes are called diploid (2n). If the reproductive cycle is to continue, the diploid cell must somehow reduce
its number of chromosome sets before fertilization can occur again, or there will be a continual doubling in the number of
chromosome sets in every generation. So, in addition to fertilization, sexual reproduction includes a nuclear division, known
as meiosis that reduces the number of chromosome sets.
The nuclear division that forms haploid cells, which is called meiosis, is related to mitosis. As you have learned, mitosis is
part of a cell reproduction cycle that results in identical daughter nuclei that are also genetically identical to the original parent
nucleus. In mitosis, both the parent and the daughter nuclei contain the same number of chromosome sets—diploid for most
plants and animals. Meiosis employs many of the same mechanisms as mitosis. However, the starting nucleus is always
diploid and the nuclei that result at the end of a meiotic cell division are haploid. To achieve the reduction in chromosome
number, meiosis consists of one round of chromosome duplication and two rounds of nuclear division. Because the events
that occur during each of the division stages are analogous to the events of mitosis, the same stage names are assigned.
However, because there are two rounds of division, the stages are designated with a “I” or “II.” Thus, meiosis I is the first
round of meiotic division and consists of prophase I, prometaphase I, and so on. Meiosis I reduces the number of chromosome
sets from two to one. The genetic information is also mixed during this division to create unique recombinant chromosomes.
Meiosis II, in which the second round of meiotic division takes place in a way that is similar to mitosis, includes prophase II,
prometaphase II, and so on.

Interphase
Meiosis is preceded by an interphase consisting of the G1, S, and G2 phases, which are nearly identical to the phases preceding
mitosis. The G1 phase is the first phase of interphase and is focused on cell growth. In the S phase, the DNA of the
chromosomes is replicated. Finally, in the G2 phase, the cell undergoes the final preparations for meiosis.
During DNA duplication of the S phase, each chromosome becomes composed of two identical copies (called sister
chromatids) that are held together at the centromere until they are pulled apart during meiosis II. In an animal cell, the
centrosomes that organize the microtubules of the meiotic spindle also replicate. This prepares the cell for the first meiotic
phase.

Meiosis I
Early in prophase I, the chromosomes can be seen clearly microscopically. As the nuclear envelope begins to break down,
the proteins associated with homologous chromosomes bring the pair close to each other. The tight pairing of the homologous
chromosomes is called synapsis. In synapsis, the genes on the chromatids of the homologous chromosomes are precisely
aligned with each other. An exchange of chromosome segments between non-sister homologous chromatids occurs and is
called crossing over. This process is revealed visually after the exchange as chiasmata (singular = chiasma) (Figure 12.2).
As prophase I progresses, the close association between homologous chromosomes begins to break down, and the
chromosomes continue to condense, although the homologous chromosomes remain attached to each other at chiasmata. The
number of chiasmata varies with the species and the length of the chromosome. At the end of prophase I, the pairs are held
together only at chiasmata (Figure 12.2) and are called tetrads because the four sister chromatids of each pair of homologous
chromosomes are now visible.
The crossover events are the first source of genetic variation produced by meiosis. A single crossover event between
homologous non-sister chromatids leads to a reciprocal exchange of equivalent DNA between a maternal chromosome and a
paternal chromosome. Now, when that sister chromatid is moved into a gamete, it will carry some DNA from one parent of

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the individual and some DNA from the other parent. The recombinant sister chromatid has a combination of maternal and
paternal genes that did not exist before the crossover.

Figure 12.2 In this illustration of the effects

of crossing over, the blue chromosome
came from the individual’s father and the
red chromosome came from the
individual’s mother. Crossover occurs
between non-sister chromatids of
homologous chromosomes. The result is
an exchange of genetic material between
homologous chromosomes. The
chromosomes that have a mixture of
maternal and paternal sequence are called
recombinant and the chromosomes that
are completely paternal or maternal are
called non-recombinant.

The key event in prometaphase I is the attachment of the spindle fiber microtubules to the kinetochore proteins at the
centromeres. The microtubules assembled from centrosomes at opposite poles of the cell grow toward the middle of the cell. At
the end of prometaphase I, each tetrad is attached to microtubules from both poles, with one homologous chromosome
attached at one pole and the other homologous chromosome attached to the other pole. The homologous chromosomes are
still held together at chiasmata. In addition, the nuclear membrane has broken down entirely.
During metaphase I, the homologous chromosomes are arranged in the center of the cell with the kinetochores facing opposite
poles. The orientation of each pair of homologous chromosomes at the center of the cell is random.
This randomness, called independent assortment, is the physical basis for the generation of the second form of genetic
variation in offspring. Consider that the homologous chromosomes of a sexually reproducing organism are originally inherited
as two separate sets, one from each parent. Using humans as an example, one set of 23 chromosomes is present in the egg
donated by the mother. The father provides the other set of 23 chromosomes in the sperm that fertilizes the egg. In metaphase
I, these pairs line up at the midway point between the two poles of the cell. Because there is an equal chance that a microtubule
fiber will encounter a maternally or paternally inherited chromosome, the arrangement of the tetrads at the metaphase plate
is random. Any maternally inherited chromosome may face either pole. Any paternally inherited chromosome may also face
either pole. The orientation of each tetrad is independent of the orientation of the other 22 tetrads.
In each cell that undergoes meiosis, the arrangement of the tetrads is different. The number of variations depends on the
number of chromosomes making up a set. There are two possibilities for orientation (for each tetrad); thus, the possible
number of alignments equals 2n where n is the number of chromosomes per set. Humans have 23 chromosome pairs, which
results in over eight million (223) possibilities. This number does not include the variability previously created in the sister
chromatids by crossover. Given these two mechanisms, it is highly unlikely that any two haploid cells resulting from meiosis
will have the same genetic composition (Figure 12.3).
To summarize the genetic consequences of meiosis I: the maternal and paternal genes are recombined by crossover events
occurring on each homologous pair during prophase I; in addition, the random assortment of tetrads at metaphase produces a
unique combination of maternal and paternal chromosomes that will make their way into the gametes.

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Figure 12.3 To demonstrate random, independent assortment at metaphase I, consider a cell with n = 2. In this case,
there are two possible arrangements at the equatorial plane in metaphase I, as shown in the upper cell of each panel.
These two possible orientations lead to the production of genetically different gametes. With more chromosomes, the
number of possible arrangements increases dramatically.

In anaphase I, the spindle fibers pull the linked chromosomes apart. The sister chromatids remain tightly bound together at
the centromere. It is the chiasma connections that are broken in anaphase I as the fibers attached to the fused kinetochores
pull the homologous chromosomes apart (Figure 12.3).
In telophase I, the separated chromosomes arrive at opposite poles. The remainder of the typical telophase events may or may
not occur depending on the species. In some organisms, the chromosomes decondense and nuclear envelopes form around
the chromatids in telophase I.
Cytokinesis, the physical separation of the cytoplasmic components into two daughter cells, occurs without reformation of
the nuclei in other organisms. In nearly all species, cytokinesis separates the cell contents by either a cleavage furrow (in
animals and some fungi), or a cell plate that will ultimately lead to formation of cell walls that separate the two daughter cells
(in plants). At each pole, there is just one member of each pair of the homologous chromosomes, so only one full set of the
chromosomes is present. This is why the cells are considered haploid—there is only one chromosome set, even though there
are duplicate copies of the set because each homolog still consists of two sister chromatids that are still attached to each other.
However, although the sister chromatids were once duplicates of the same chromosome, they are no longer identical at this
stage because of crossovers.

Review the process of meiosis, observing how chromosomes align and migrate, at this site ([Link]
l/animal_meiosis2) .

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Meiosis II
In meiosis II, the connected sister chromatids remaining in the haploid cells from meiosis I will be split to form four haploid
cells. In some species, cells enter a brief interphase, or interkinesis, that lacks an S phase, before entering meiosis II.
Chromosomes are not duplicated during interkinesis. The two cells produced in meiosis I go through the events of meiosis II
in synchrony. Overall, meiosis II resembles the mitotic division of a haploid cell.
In prophase II, if the chromosomes decondensed in telophase I, they condense again. If nuclear envelopes were formed, they
fragment into vesicles. The centrosomes duplicated during interkinesis move away from each other toward opposite poles,
and new spindles are formed. In prometaphase II, the nuclear envelopes are completely broken down, and the spindle is fully
formed. Each sister chromatid forms an individual kinetochore that attaches to microtubules from opposite poles. In metaphase
II, the sister chromatids are maximally condensed and aligned at the center of the cell. In anaphase II, the sister chromatids
are pulled apart by the spindle fibers and move toward opposite poles.

Figure 12.4 In prometaphase I, microtubules attach to the fused kinetochores of homologous chromosomes. In
anaphase I, the homologous chromosomes are separated. In prometaphase II, microtubules attach to individual
kinetochores of sister chromatids. In anaphase II, the sister chromatids are separated.

In telophase II, the chromosomes arrive at opposite poles and begin to decondense. Nuclear envelopes form around the
chromosomes. Cytokinesis separates the two cells into four genetically unique haploid cells. At this point, the nuclei in the
newly produced cells are both haploid and have only one copy of the single set of chromosomes. The cells produced are
genetically unique because of the random assortment of paternal and maternal homologs and because of the recombination
of maternal and paternal segments of chromosomes—with their sets of genes—that occurs during crossover.

Comparing Meiosis and Mitosis

Mitosis and meiosis, which are both forms of division of the nucleus in eukaryotic cells, share some similarities, but also
exhibit distinct differences that lead to their very different outcomes. Mitosis is a single nuclear division that results in two
nuclei, usually partitioned into two new cells. The nuclei resulting from a mitotic division are genetically identical to the
original. They have the same number of sets of chromosomes: one in the case of haploid cells, and two in the case of diploid
cells. On the other hand, meiosis is two nuclear divisions that result in four nuclei, usually partitioned into four new cells. The
nuclei resulting from meiosis are never genetically identical, and they contain one chromosome set only—this is half the
number of the original cell, which was diploid (Figure 12.5).
The differences in the outcomes of meiosis and mitosis occur because of differences in the behavior of the chromosomes
during each process. Most of these differences in the processes occur in meiosis I, which is a very different nuclear division
than mitosis. In meiosis I, the homologous chromosome pairs become associated with each other, are bound together,
experience chiasmata and crossover between sister chromatids, and line up along the metaphase plate in tetrads with spindle
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fibers from opposite spindle poles attached to each kinetochore of a homolog in a tetrad. All of these events occur only in
meiosis I, never in mitosis.
Homologous chromosomes move to opposite poles during meiosis I so the number of sets of chromosomes in each nucleus-
to-be is reduced from two to one. For this reason, meiosis I is referred to as a reduction division. There is no such reduction in
ploidy level in mitosis.
Meiosis II is much more analogous to a mitotic division. In this case, duplicated chromosomes (only one set of them) line up
at the center of the cell with divided kinetochores attached to spindle fibers from opposite poles. During anaphase II, as in
mitotic anaphase, the kinetochores divide and one sister chromatid is pulled to one pole and the other sister chromatid is
pulled to the other pole. If it were not for the fact that there had been crossovers, the two products of each meiosis II division
would be identical as in mitosis; instead, they are different because there has always been at least one crossover per
chromosome. Meiosis II is not a reduction division because, although there are fewer copies of the genome in the resulting
cells, there is still one set of chromosomes, as there was at the end of meiosis I.
Cells produced by mitosis will function in different parts of the body as a part of growth or replacing dead or damaged cells.
They may even be involved in asexual reproduction in some organisms. Cells produced by meiosis in a diploid-dominant
organism such as an animal will only participate in sexual reproduction.

Figure 12.5 Meiosis and

mitosis are both preceded by
one round of DNA replication;
however, meiosis includes
two nuclear divisions. The
four daughter cells resulting
from meiosis are haploid and
genetically distinct. The
daughter cells resulting from
mitosis are diploid and
identical to the parent cell.

For an animation comparing mitosis and meiosis, go to this website ([Link] .

12.2 | Errors in Meiosis

By the end of this section, you will be able to:
• Explain how nondisjunction leads to disorders in chromosome number
• Describe how errors in chromosome structure occur through inversions and translocations

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Inherited disorders can arise when chromosomes behave abnormally during meiosis. Chromosome disorders can be divided
into two categories: abnormalities in chromosome number and chromosome structural rearrangements. Because even small
segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal.

Disorders in Chromosome Number

The isolation and microscopic observation of chromosomes forms the basis of cytogenetics and is the primary method by
which clinicians detect chromosomal abnormalities in humans. A karyotype is the number and appearance of chromosomes,
including their length, banding pattern, and centromere position. To obtain a view of an individual’s karyotype, cytologists
photograph the chromosomes and then cut and paste each chromosome into a chart, or karyogram (Figure12.6).

Figure 12.6 This karyogram shows the chromosomes of a female human immune cell during mitosis. (credit: Andreas
Bolzer, et al)

Geneticists Use Karyograms to Identify Chromosomal Aberrations

The karyotype is a method by which traits characterized by chromosomal abnormalities can be identified from
a single cell. To observe an individual’s karyotype, a person’s cells (like white blood cells) are first collected from
a blood sample or other tissue. In the laboratory, the isolated cells are stimulated to begin actively dividing. A
chemical is then applied to the cells to arrest mitosis during metaphase. The cells are then fixed to a slide.
The geneticist then stains chromosomes with one of several dyes to better visualize the distinct and reproducible
banding patterns of each chromosome pair. Following staining, chromosomes are viewed using bright-field
microscopy. An experienced cytogeneticist can identify each band. In addition to the banding patterns,
chromosomes are further identified on the basis of size and centromere location. To obtain the classic depiction
of the karyotype in which homologous pairs of chromosomes are aligned in numerical order from longest to
shortest, the geneticist obtains a digital image, identifies each chromosome, and manually arranges the
chromosomes into this pattern (Figure 12.6).
At its most basic, the karyogram may reveal genetic abnormalities in which an individual has too many or too
few chromosomes per cell. Examples of this are Down syndrome, which is identified by a third copy of
chromosome 21, and Turner syndrome, which is characterized by the presence of only one X chromosome in
women instead of two. Geneticists can also identify large deletions or insertions of DNA. For instance, Jacobsen
syndrome, which involves distinctive facial features as well as heart and bleeding defects, is identified by a
deletion on chromosome 11. Finally, the karyotype can pinpoint translocations, which occur when a segment
of genetic material breaks from one chromosome and reattaches to another chromosome or to a different part
of the same chromosome. Translocations are implicated in certain cancers, including chronic myelogenous
leukemia.
By observing a karyogram, geneticists can actually visualize the chromosomal composition of an individual to
confirm or predict genetic abnormalities in offspring even before birth.

Nondisjunctions, Duplications, and Deletions

Of all the chromosomal disorders, abnormalities in chromosome number are the most easily identifiable from a karyogram.
Disorders of chromosome number include the duplication or loss of entire chromosomes, as well as changes in the number
of complete sets of chromosomes. They are caused by nondisjunction, which occurs when pairs of homologous chromosomes
or sister chromatids fail to separate during meiosis. The risk of nondisjunction increases with the age of the parents.
Nondisjunction can occur during either meiosis I or II, with different results (Figure 12.7). If homologous chromosomes fail
to separate during meiosis I, the result is two gametes that lack that chromosome and two gametes with two copies of the
normal gametes with one copy of the chromosome, and one gamete with two copies of the chromosome.

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Figure 12.7 Following meiosis, each gamete has one copy of each chromosome. Nondisjunction occurs when
homologous chromosomes (meiosis I) or sister chromatids (meiosis II) fail to separate during meiosis chromosome. If
sister chromatids fail to separate during meiosis II, the result is one gamete that lacks that chromosome, two

An individual with the appropriate number of chromosomes for their species is called euploid; in humans, euploidy
corresponds to 22 pairs of autosomes and one pair of sex chromosomes. An individual with an error in chromosome number is
described as aneuploid, a term that includes monosomy (loss of one chromosome) or trisomy (gain of an extraneous
chromosome). Monosomic human zygotes missing any one copy of an autosome invariably fail to develop to birth because
they have only one copy of essential genes. Most autosomal trisomies also fail to develop to birth; however, duplications of
some of the smaller chromosomes (13, 15, 18, 21, or 22) can result in offspring that survive for several weeks to many years.
Trisomic individuals suffer from a different type of genetic imbalance: an excess in gene dose. Cell functions are calibrated
to the amount of gene product produced by two copies (doses) of each gene; adding a third copy (dose) disrupts this balance.
The most common trisomy is that of chromosome 21, which leads to Down syndrome. Individuals with this inherited disorder
have characteristic physical features and developmental delays in growth and cognition. The incidence of Down syndrome is
correlated with maternal age, such that older women are more likely to give birth to children with Down syndrome (Figure
12.8).

Figure 12.8 The incidence of having a fetus with

trisomy 21 increases dramatically with maternal age.

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Visualize the addition of a chromosome that leads to Down syndrome in this video simulation
([Link] .

Humans display dramatic deleterious effects with autosomal trisomies and monosomies. Therefore, it may seem
counterintuitive that human females and males can function normally, despite carrying different numbers of the X
chromosome. In part, this occurs because of a process called X inactivation. Early in development, when female mammalian
embryos consist of just a few thousand cells, one X chromosome in each cell inactivates by condensing into a structure
called a Barr body. The genes on the inactive X chromosome are not expressed. The particular X chromosome (maternally or
paternally derived) that is inactivated in each cell is random, but once the inactivation occurs, all cells descended from that
cell will have the same inactive X chromosome. By this process, females compensate for their double genetic dose of X
chromosome.

In an individual carrying an abnormal number of X chromosomes, cellular mechanisms will inactivate all but one X in each of
her cells. As a result, X-chromosomal abnormalities are typically associated with mild mental and physical defects, as well
as sterility. If the X chromosome is absent altogether, the individual will not develop.
Several errors in sex chromosome number have been characterized. Individuals with three X chromosomes, called triplo-X,
appear female but express developmental delays and reduced fertility. The XXY chromosome complement, corresponding to
one type of Klinefelter syndrome, corresponds to male individuals with small testes, enlarged breasts, and reduced body hair.
The extra X chromosome undergoes inactivation to compensate for the excess genetic dosage. Turner syndrome, characterized
as an X0 chromosome complement (i.e., only a single sex chromosome), corresponds to a female individual with short stature,
webbed skin in the neck region, hearing and cardiac impairments, and sterility.
An individual with more than the correct number of chromosome sets (two for diploid species) is called polyploid. For
instance, fertilization of an abnormal diploid egg with a normal haploid sperm would yield a triploid zygote. Polyploid animals
are extremely rare, with only a few examples among the flatworms, crustaceans, amphibians, fish, and lizards. Triploid
animals are sterile because meiosis cannot proceed normally with an odd number of chromosome sets. In contrast, polyploidy
is very common in the plant kingdom, and polyploid plants tend to be larger and more robust than euploids of their species.

Chromosome Structural Rearrangements

Cytologists have characterized numerous structural rearrangements in chromosomes, including partial duplications, deletions,
inversions, and translocations. Duplications and deletions often produce offspring that survive but exhibit physical and mental
abnormalities. Cri-du-chat (from the French for “cry of the cat”) is a syndrome associated with nervous system abnormalities
and identifiable physical features that results from a deletion of most of the small arm of chromosome 5 (Figure 12.9). Infants
with this genotype emit a characteristic high-pitched cry upon which the disorder’s name is based.
Chromosome inversions and translocations can be identified by observing cells during meiosis because homologous
chromosomes with a rearrangement in one of the pair must contort to maintain appropriate gene alignment and pair effectively
during prophase I.

Figure 12.9 This individual with cri-du-chat syndrome is

shown at various ages: (A) age two, (B) age four, (C) age
nine, and (D) age 12. (credit: Paola Cerruti Mainardi)

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A chromosome inversion is the detachment, 180° rotation, and reinsertion of part of a chromosome (Figure 12.10). Unless
they disrupt a gene sequence, inversions only change the orientation of genes and are likely to have more mild effects than
aneuploid errors.

A translocation occurs when a segment of a chromosome dissociates and reattaches to a different, nonhomologous
chromosome. Translocations can be benign or have devastating effects, depending on how the positions of genes are altered
with respect to regulatory sequences. Notably, specific translocations have been associated with several cancers and with
schizophrenia. Reciprocal translocations result from the exchange of chromosome segments between two nonhomologous
chromosomes such that there is no gain or loss of genetic information (Figure 12.10).

Figure 12.10 An (a) inversion occurs when a chromosome segment breaks from the chromosome, reverses its
orientation, and then reattaches in the original position. A (b) reciprocal translocation occurs between two
nonhomologous chromosomes and does not cause any genetic information to be lost or duplicated. (credit: modification
of work by National Human Genome Research Institute (USA)

12.3| Patterns of Inheritance

By the end of this section, you will be able to:
• Differentiate between genotype and phenotype
• Describe how alleles determine a person’s traits
• Summarize Mendel’s experiments and relate them to human genetics
• Explain the inheritance of autosomal dominant and recessive and sex-linked genetic disorders

We have discussed the events that lead to the development of a newborn. But what makes each newborn unique? The answer
lies, of course, in the DNA in the sperm and oocyte that combined to produce that first diploid cell, the human zygote.

From Genotype to Phenotype

Each human body cell has a full complement of DNA stored in 23 pairs of chromosomes. Figure 12.6 shows the pairs in a
systematic arrangement called a karyotype. Among these is one pair of chromosomes, called the sex chromosomes, that
determines the sex of the individual (XX in females, XY in males). The remaining 22 chromosome pairs are called autosomal
chromosomes. Each of these chromosomes carries hundreds or even thousands of genes, each of which codes for the assembly
of a particular protein—that is, genes are “expressed” as proteins. An individual’s complete genetic makeup is referred to as
his or her genotype. The characteristics that the genes express, whether they are physical, behavioral, or biochemical, are a
person’s phenotype.
You inherit one chromosome in each pair—a full complement of 23—from each parent. This occurs when the sperm and
oocyte combine at the moment of your conception. Homologous chromosomes—those that make up a complementary pair—
have genes for the same characteristics in the same location on the chromosome. Because one copy of a gene, an allele, is
inherited from each parent, the alleles in these complementary pairs may vary. Take for example an allele that encodes for
dimples. A child may inherit the allele encoding for dimples on the chromosome from the father and the allele that encodes
for smooth skin (no dimples) on the chromosome from the mother.

Although a person can have two identical alleles for a single gene (a homozygous state), it is also possible for a person to
have two different alleles (a heterozygous state). The two alleles can interact in several different ways. The expression of an
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allele can be dominant, for which the activity of this gene will mask the expression of a nondominant, or recessive, allele.
Sometimes dominance is complete; at other times, it is incomplete. In some cases, both alleles are expressed at the same time
in a form of expression known as codominance.
In the simplest scenario, a single pair of genes will determine a single heritable characteristic. However, it is quite common for
multiple genes to interact to confer a feature. For instance, eight or more genes—each with their own alleles—determine eye
color in humans. Moreover, although any one person can only have two alleles corresponding to a given gene, more than two
alleles commonly exist in a population. This phenomenon is called multiple alleles. For example, there are three different
alleles that encode ABO blood type; these are designated IA, IB, and i.
Over 100 years of theoretical and experimental genetics studies, and the more recent sequencing and annotation of the human
genome, have helped scientists to develop a better understanding of how an individual’s genotype is expressed as their
phenotype. This body of knowledge can help scientists and medical professionals to predict, or at least estimate, some of the
features that an offspring will inherit by examining the genotypes or phenotypes of the parents. One important application of
this knowledge is to identify an individual’s risk for certain heritable genetic disorders. However, most diseases have a
multigenic pattern of inheritance and can also be affected by the environment, so examining the genotypes or phenotypes of
a person’s parents will provide only limited information about the risk of inheriting a disease. Only for a handful of single-
gene disorders can genetic testing allow clinicians to calculate the probability with which a child born to the two parents
tested may inherit a specific disease.

Mendel’s Theory of Inheritance

Our contemporary understanding of genetics rests on the work of a nineteenth-century monk. Working in the mid-1800s, long
before anyone knew about genes or chromosomes, Gregor Mendel discovered that garden peas transmit their physical
characteristics to subsequent generations in a discrete and predictable fashion. When he mated, or crossed, two pure- breeding
pea plants that differed by a certain characteristic, the first-generation offspring all looked like one of the parents. For instance,
when he crossed tall and dwarf pure-breeding pea plants, all of the offspring were tall. Mendel called tallness dominant
because it was expressed in offspring when it was present in a purebred parent. He called dwarfism recessive because it was
masked in the offspring if one of the purebred parents possessed the dominant characteristic. Note that tallness and dwarfism
are variations on the characteristic of height. Mendel called such a variation a trait. We now know that these traits are the
expression of different alleles of the gene encoding height.
Mendel performed thousands of crosses in pea plants with differing traits for a variety of characteristics. And he repeatedly
came up with the same results—among the traits he studied, one was always dominant, and the other was always recessive.
(Remember, however, that this dominant–recessive relationship between alleles is not always the case; some alleles are
codominant, and sometimes dominance is incomplete.)
Using his understanding of dominant and recessive traits, Mendel tested whether a recessive trait could be lost altogether in a
pea lineage or whether it would resurface in a later generation. By crossing the second-generation offspring of purebred
parents with each other, he showed that the latter was true: recessive traits reappeared in third-generation plants in a ratio of
3:1 (three offspring having the dominant trait and one having the recessive trait). Mendel then proposed that characteristics
such as height were determined by heritable “factors” that were transmitted, one from each parent, and inherited in pairs by
offspring.
In the language of genetics, Mendel’s theory applied to humans says that if an individual receives two dominant alleles, one
from each parent, the individual’s phenotype will express the dominant trait. If an individual receives two recessive alleles,
then the recessive trait will be expressed in the phenotype. Individuals who have two identical alleles for a given gene, whether
dominant or recessive, are said to be homozygous for that gene (homo- = “same”). Conversely, an individual who has one
dominant allele and one recessive allele is said to be heterozygous for that gene (hetero- = “different” or “other”). In this case,
the dominant trait will be expressed, and the individual will be phenotypically identical to an individual who possesses two
dominant alleles for the trait.
It is common practice in genetics to use capital and lowercase letters to represent dominant and recessive alleles. Using
Mendel’s pea plants as an example, if a tall pea plant is homozygous, it will possess two tall alleles (TT). A dwarf pea plant
must be homozygous because its dwarfism can only be expressed when two recessive alleles are present (tt). A heterozygous
pea plant (Tt) would be tall and phenotypically indistinguishable from a tall homozygous pea plant because of the dominant
tall allele. Mendel deduced that a 3:1 ratio of dominant to recessive would be produced by the random segregation of heritable
factors (genes) when crossing two heterozygous pea plants. In other words, for any given gene, parents are equally likely to
pass down either one of their alleles to their offspring in a haploid gamete, and the result will be expressed in a dominant–
recessive pattern if both parents are heterozygous for the trait.
Because of the random segregation of gametes, the laws of chance and probability come into play when predicting the
likelihood of a given phenotype. Consider a cross between an individual with two dominant alleles for a trait (AA) and an
individual with two recessive alleles for the same trait (aa). All of the parental gametes from the dominant individual would be
A, and all of the parental gametes from the recessive individual would be a (Figure 12.11). All of the offspring of that second
generation, inheriting one allele from each parent, would have the genotype Aa, and the probability of expressing the
phenotype of the dominant allele would be 4 out of 4, or 100 percent.
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 Chapter 12 | Inheritance
This seems simple enough, but the inheritance pattern gets interesting when the second-generation Aa individuals are crossed.
In this generation, 50 percent of each parent’s gametes are A and the other 50 percent are a. By Mendel’s principle of random
segregation, the possible combinations of gametes that the offspring can receive are AA, Aa, aA (which is the same as Aa),
and aa. Because segregation and fertilization are random, each offspring has a 25 percent chance of receiving any of these
combinations. Therefore, if an Aa × Aa cross were performed 1000 times, approximately 250 (25 percent) of the offspring would
be AA; 500 (50 percent) would be Aa (that is, Aa plus aA); and 250 (25 percent) would be aa. The genotypic ratio for this
inheritance pattern is 1:2:1. However, we have already established that AA and Aa (and aA) individuals all express the
dominant trait (i.e., share the same phenotype), and can therefore be combined into one group. The result is Mendel’s third-
generation phenotype ratio of 3:1.

Figure 12.11 Random Segregation In the

formation of gametes, it is equally likely that
either one of a pair alleles from one parent
will be passed on to the offspring. This
figure follows the possible combinations of
alleles through two generations following a
first-generation cross of homozygous
dominant and homozygous recessive
parents. The recessive phenotype, which is
masked in the second generation, has a 1
in 4, or 25 percent, chance of reappearing
in the third generation.

Mendel’s observation of pea plants also included many crosses that involved multiple traits, which prompted him to formulate
the principle of independent assortment. The law states that the members of one pair of genes (alleles) from a parent will sort
independently from other pairs of genes during the formation of gametes. Applied to pea plants, that means that the alleles
associated with the different traits of the plant, such as color, height, or seed type, will sort independently of one another.
This holds true except when two alleles happen to be located close to one other on the same chromosome. Independent
assortment provides for a great degree of diversity in offspring.
Mendelian genetics represent the fundamentals of inheritance, but there are two important qualifiers to consider when
applying Mendel’s findings to inheritance studies in humans. First, as we’ve already noted, not all genes are inherited in a
dominant–recessive pattern. Although all diploid individuals have two alleles for every gene, allele pairs may interact to
create several types of inheritance patterns, including incomplete dominance and codominance.
Secondly, Mendel performed his studies using thousands of pea plants. He was able to identify a 3:1 phenotypic ratio in
second-generation offspring because his large sample size overcame the influence of variability resulting from chance. In
contrast, no human couple has ever had thousands of children. If we know that a man and woman are both heterozygous for a
recessive genetic disorder, we would predict that one in every four of their children would be affected by the disease. In real
life, however, the influence of chance could change that ratio significantly. For example, if a man and a woman are both
heterozygous for cystic fibrosis, a recessive genetic disorder that is expressed only when the individual has two defective
alleles, we would expect one in four of their children to have cystic fibrosis. However, it is entirely possible for them to have
seven children, none of whom is affected, or for them to have two children, both of whom are affected. For each individual
child, the presence or absence of a single gene disorder depends on which alleles that child inherits from his or her parents.

Autosomal Dominant Inheritance

In the case of cystic fibrosis, the disorder is recessive to the normal phenotype. However, a genetic abnormality may be
dominant to the normal phenotype. When the dominant allele is located on one of the 22 pairs of autosomes (non-sex
chromosomes), we refer to its inheritance pattern as autosomal dominant. An example of an autosomal dominant disorder
is neurofibromatosis type I, a disease that induces tumor formation within the nervous system that leads to skin and skeletal
deformities. Consider a couple in which one parent is heterozygous for this disorder (and who therefore has
neurofibromatosis), Nn, and one parent is homozygous for the normal gene, nn. The heterozygous parent would have a 50
percent chance of passing the dominant allele for this disorder to his or her offspring, and the homozygous parent would
always pass the normal allele. Therefore, four possible offspring genotypes are equally likely to occur: Nn, Nn, nn, and nn.
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 Chapter 12 | Inheritance
That is, every child of this couple would have a 50 percent chance of inheriting neurofibromatosis. This inheritance pattern is
shown in Figure 12.12, in a form called a Punnett square, named after its creator, the British geneticist Reginald Punnett.

Figure 12.12 Autosomal Dominant

Inheritance Inheritance pattern of an
autosomal dominant disorder, such as
neurofibromatosis, is shown in a Punnett
square.

Other genetic diseases that are inherited in this pattern are achondroplastic dwarfism, Marfan syndrome, and Huntington’s
disease. Because autosomal dominant disorders are expressed by the presence of just one gene, an individual with the disorder
will know that he or she has at least one faulty gene. The expression of the disease may manifest later in life, after the
childbearing years, which is the case in Huntington’s disease (discussed in more detail later in this section).

Autosomal Recessive Inheritance

When a genetic disorder is inherited in an autosomal recessive pattern, the disorder corresponds to the recessive phenotype.
Heterozygous individuals will not display symptoms of this disorder, because their unaffected gene will compensate. Such an
individual is called a carrier. Carriers for an autosomal recessive disorder may never know their genotype unless they have
a child with the disorder.
An example of an autosomal recessive disorder is cystic fibrosis (CF), which we introduced earlier. CF is characterized by
the chronic accumulation of a thick, tenacious mucus in the lungs and digestive tract. Decades ago, children with CF rarely
lived to adulthood. With advances in medical technology, the average lifespan in developed countries has increased into
middle adulthood. CF is a relatively common disorder that occurs in approximately 1 in 2000 Caucasians. A child born to
two CF carriers would have a 25 percent chance of inheriting the disease. This is the same 3:1 dominant:recessive ratio that
Mendel observed in his pea plants would apply here. The pattern is shown in Figure 12.13, using a diagram that tracks the
likely incidence of an autosomal recessive disorder on the basis of parental genotypes.
On the other hand, a child born to a CF carrier and someone with two unaffected alleles would have a 0 percent probability
of inheriting CF, but would have a 50 percent chance of being a carrier. Other examples of autosome recessive genetic illnesses
include the blood disorder sickle-cell anemia, the fatal neurological disorder Tay–Sachs disease, and the metabolic disorder
phenylketonuria.

Figure 12.13 Autosomal

Recessive Inheritance
The inheritance pattern of
an autosomal recessive
disorder with two carrier
parents reflects a 3:1
probability of expression
among offspring. (credit:
U.S. National Library of
Medicine)

X-linked Dominant or Recessive Inheritance

An X-linked transmission pattern involves genes located on the X chromosome of the 23rd pair (Figure 12.13). Recall that
a male has one X and one Y chromosome. When a father transmits a Y chromosome, the child is male, and when he transmits
an X chromosome, the child is female. A mother can transmit only an X chromosome, as both her sex chromosomes are X
chromosomes.

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 Chapter 12 | Inheritance
When an abnormal allele for a gene that occurs on the X chromosome is dominant over the normal allele, the pattern is
described as X-linked dominant. This is the case with vitamin D–resistant rickets: an affected father would pass the disease
gene to all of his daughters, but none of his sons, because he donates only the Y chromosome to his sons (see Figure 12.13a).
If it is the mother who is affected, all of her children—male or female—would have a 50 percent chance of inheriting the
disorder because she can only pass an X chromosome on to her children (see Figure 12.13b). For an affected female, the
inheritance pattern would be identical to that of an autosomal dominant inheritance pattern in which one parent is
heterozygous and the other is homozygous for the normal gene.

Figure 12.13 X-Linked Patterns of Inheritance A chart of X-

linked dominant inheritance patterns differs depending on
whether (a) the father or (b) the mother is affected with the
disease. (credit: U.S. National Library of Medicine)

X-linked recessive inheritance is much more common because females can be carriers of the disease yet still have a normal
phenotype. Diseases transmitted by X-linked recessive inheritance include color blindness, the blood-clotting disorder
hemophilia, and some forms of muscular dystrophy. For an example of X-linked recessive inheritance, consider parents in
which the mother is an unaffected carrier and the father is normal. None of the daughters would have the disease because they
receive a normal gene from their father. However, they have a 50 percent chance of receiving the disease gene from their
mother and becoming a carrier. In contrast, 50 percent of the sons would be affected (Figure 12.14).
With X-linked recessive diseases, males either have the disease or are genotypically normal—they cannot be carriers.
Females, however, can be genotypically normal, a carrier who is phenotypically normal, or affected with the disease. A
daughter can inherit the gene for an X-linked recessive illness when her mother is a carrier or affected, or her father is affected.
The daughter will be affected by the disease only if she inherits an X-linked recessive gene from both parents. As you can
imagine, X-linked recessive disorders affect many more males than females. For example, color blindness affects at least 1
in 20 males, but only about 1 in 400 females.

Figure 12.14 X-Linked Recessive Inheritance Given

two parents in which the father is normal and the
mother is a carrier of an X-linked recessive disorder, a
son would have a 50 percent probability of being
affected with the disorder, whereas daughters would
either be carriers or entirely unaffected. (credit: U.S.
National Library of Medicine)

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 Chapter 12 | Inheritance
Other Inheritance Patterns: Incomplete Dominance, Codominance, and Lethal
Alleles
Not all genetic disorders are inherited in a dominant–recessive pattern. In incomplete dominance, the offspring express a
heterozygous phenotype that is intermediate between one parent’s homozygous dominant trait and the other parent’s
homozygous recessive trait. An example of this can be seen in snapdragons when red-flowered plants and white-flowered
plants are crossed to produce pink-flowered plants. In humans, incomplete dominance occurs with one of the genes for hair
texture. When one parent passes a curly hair allele (the incompletely dominant allele) and the other parent passes a straight-
hair allele, the effect on the offspring will be intermediate, resulting in hair that is wavy.
Codominance is characterized by the equal, distinct, and simultaneous expression of both parents’ different alleles. This
pattern differs from the intermediate, blended features seen in incomplete dominance. A classic example of codominance in
humans is ABO blood type. People are blood type A if they have an allele for an enzyme that facilitates the production of
surface antigen A on their erythrocytes. This allele is designated IA. In the same manner, people are blood type B if they
express an enzyme for the production of surface antigen B. People who have alleles for both enzymes (IA and IB) produce
both surface antigens A and B. As a result, they are blood type AB. Because the effect of both alleles (or enzymes) is observed,
we say that the IA and IB alleles are codominant. There is also a third allele that determines blood type. This allele
(i) produces a nonfunctional enzyme. People who have two i alleles do not produce either A or B surface antigens: they have
type O blood. If a person has IA and i alleles, the person will have blood type A. Notice that it does not make any difference
whether a person has two IA alleles or one IA and one i allele. In both cases, the person is blood type A. Because IA masks i,
we say that IA is dominant to i. Table 28.4 summarizes the expression of blood type.

Expression of Blood Types

Blood type Genotype Pattern of inheritance
A IAIA or IAi IA is dominant to i
B IBIB or IBi IB is dominant to i
AB IAIB IA is co-dominant to IB
O ii Two recessive alleles

Table 28.4

Certain combinations of alleles can be lethal, meaning they prevent the individual from developing in utero, or cause a
shortened life span. In recessive lethal inheritance patterns, a child who is born to two heterozygous (carrier) parents and
who inherited the faulty allele from both would not survive. An example of this is Tay–Sachs, a fatal disorder of the nervous
system. In this disorder, parents with one copy of the allele for the disorder are carriers. If they both transmit their abnormal
allele, their offspring will develop the disease and will die in childhood, usually before age 5.
Dominant lethal inheritance patterns are much rarer because neither heterozygotes nor homozygotes survive. Of course,
dominant lethal alleles that arise naturally through mutation and cause miscarriages or stillbirths are never transmitted to
subsequent generations. However, some dominant lethal alleles, such as the allele for Huntington’s disease, cause a shortened
life span but may not be identified until after the person reaches reproductive age and has children. Huntington’s disease
causes irreversible nerve cell degeneration and death in 100 percent of affected individuals, but it may not be expressed until
the individual reaches middle age. In this way, dominant lethal alleles can be maintained in the human population. Individuals
with a family history of Huntington’s disease are typically offered genetic counseling, which can help them decide whether
or not they wish to be tested for the faulty gene.

Mutations
A mutation is a change in the sequence of DNA nucleotides that may or may not affect a person’s phenotype. Mutations can
arise spontaneously from errors during DNA replication, or they can result from environmental insults such as radiation, certain
viruses, or exposure to tobacco smoke or other toxic chemicals. Because genes encode for the assembly of proteins, a mutation
in the nucleotide sequence of a gene can change amino acid sequence and, consequently, a protein’s structure and function.
Spontaneous mutations occurring during meiosis are thought to account for many spontaneous abortions (miscarriages).

Chromosomal Disorders
Sometimes a genetic disease is not caused by a mutation in a gene, but by the presence of an incorrect number of
chromosomes. For example, Down syndrome is caused by having three copies of chromosome 21. This is known as trisomy
21. The most common cause of trisomy 21 is chromosomal nondisjunction during meiosis. The frequency of nondisjunction
events appears to increase with age, so the frequency of bearing a child with Down syndrome increases in women over 36.
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 Chapter 12 | Inheritance
The age of the father matters less because nondisjunction is much less likely to occur in a sperm than in an egg.
Whereas Down syndrome is caused by having three copies of a chromosome, Turner syndrome is caused by having just one
copy of the X chromosome. This is known as monosomy. The affected child is always female. Women with Turner syndrome
are sterile because their sexual organs do not mature.

Genetic Counselor
Given the intricate orchestration of gene expression, cell migration, and cell differentiation during prenatal
development, it is amazing that the vast majority of newborns are healthy and free of major birth defects. When a
woman over 35 is pregnant or intends to become pregnant, or her partner is over 55, or if there is a family history of a
genetic disorder, she and her partner may want to speak to a genetic counselor to discuss the likelihood that their child
may be affected by a genetic or chromosomal disorder. A genetic counselor can interpret a couple’s family history and
estimate the risks to their future offspring.

For many genetic diseases, a DNA test can determine whether a person is a carrier. For instance, carrier status for Fragile
X, an X-linked disorder associated with mental retardation, or for cystic fibrosis can be determined with a simple blood
draw to obtain DNA for testing. A genetic counselor can educate a couple about the implications of such a test and help
them decide whether to undergo testing. For chromosomal disorders, the available testing options include a blood test,
amniocentesis (in which amniotic fluid is tested), and chorionic villus sampling (in which tissue from the placenta is
tested). Each of these has advantages and drawbacks. A genetic counselor can also help a couple cope with the news
that either one or both partners is a carrier of a genetic illness, or that their unborn child has been diagnosed with a
chromosomal disorder or other birth defect.

To become a genetic counselor, one needs to complete a 4-year undergraduate program and then obtain a Master of
Science in Genetic Counseling from an accredited university. Board certification is attained after passing examinations by
the American Board of Genetic Counseling. Genetic counselors are essential professionals in many branches of medicine,
but there is a particular demand for preconception and prenatal genetic counselors.

Visit the National Society of Genetic Counselors website ([Link] for more
information about genetic counselors.

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Visit the American Board of Genetic Counselors, Inc., website
([Link] for more information about genetic counselors.

KEY TERMS
aneuploid an individual with an error in chromosome number; includes deletions and duplications of chromosome
segments

autosome any of the non-sex chromosomes

chromosome in humans, the 22 pairs of chromosomes that are not the sex chromosomes (XX or XY) autosomal

chromosome inversion the detachment, 180° rotation, and reinsertion of a chromosome arm

crossing over (also, recombination) the exchange of genetic material between homologous chromosomes resulting in
chromosomes that incorporate genes from both parents of the organism forming reproductive cells

dominant pattern of dominant inheritance that corresponds to a gene on one of the 22 autosomal
chromosomes

autosomal recessive pattern of recessive inheritance that corresponds to a gene on one of the 22 autosomal
chromosomes

carrier heterozygous individual who does not display symptoms of a recessive genetic disorder but can transmit the
disorder to his or her offspring

cleavage form of mitotic cell division in which the cell divides but the total volume remains unchanged; this process
serves to produce smaller and smaller cells

codominance pattern of inheritance that corresponds to the equal, distinct, and simultaneous expression of two
different alleles

dominant describes a trait that is expressed both in homozygous and heterozygous form

dominant lethal inheritance pattern in which individuals with one or two copies of a lethal allele do not survive in
utero or have a shortened life span

fertilization unification of genetic material from male and female haploid gametes

genotype complete genetic makeup of an individual

heterozygous having two different alleles for a given gene

homozygous having two identical alleles for a given gene

incomplete dominance pattern of inheritance in which a heterozygous genotype expresses a phenotype intermediate
between dominant and recessive phenotypes

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karyotype the number and appearance of an individuals chromosomes, including the size, banding patterns, and
centromere position

meiosis a nuclear division process that results in four haploid cells

meiosis I the first round of meiotic cell division; referred to as reduction division because the resulting cells are haploid

meiosis II the second round of meiotic cell division following meiosis I; sister chromatids are separated from each other,
and the result is four unique haploid cells

mutation change in the nucleotide sequence of DNA

nondisjunction the failure of synapsed homologs to completely separate and migrate to separate poles during the first
cell division of meiosis

phenotype physical or biochemical manifestation of the genotype; expression of the alleles

polyploid an individual with an incorrect number of chromosome sets

recessive describes a trait that is only expressed in homozygous form and is masked in heterozygous form

recessive lethal inheritance pattern in which individuals with two copies of a lethal allele do not survive in utero or
have a shortened life span

recombinant describing something composed of genetic material from two sources, such as a chromosome with both
maternal and paternal segments of DNA

reduction division a nuclear division that produces daughter nuclei each having one-half as many chromosome sets as
the parental nucleus; meiosis I is a reduction division

sex chromosomes pair of chromosomes involved in sex determination; in males, the XY chromosomes; in females,
the XX chromosomes

somatic cell all the cells of a multicellular organism except the gamete-forming cells

synapsis the formation of a close association between homologous chromosomes during prophase I

trait variation of an expressed characteristic

translocation the process by which one segment of a chromosome dissociates and reattaches to a different,
nonhomologous chromosome

trisomy an otherwise diploid genotype in which one entire chromosome is duplicated

X inactivation the condensation of X chromosomes into Barr bodies during embryonic development in females to
compensate for the double genetic dose

X-linked pattern of inheritance in which an allele is carried on the X chromosome of the 23rd pair

X-linked dominant pattern of dominant inheritance that corresponds to a gene on the X chromosome of the 23rd pair

X-linked recessive pattern of recessive inheritance that corresponds to a gene on the X chromosome of the 23rd pair

zygote fertilized egg; a diploid cell resulting from the fertilization of haploid gametes from the male and female lines

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CHAPTER REVIEW
7.1 Meiosis

Sexual reproduction requires that diploid organisms produce haploid cells that can fuse during fertilization to form
diploid offspring. The process that results in haploid cells is called meiosis. Meiosis is a series of events that arrange and
separate chromosomes into daughter cells. During the interphase of meiosis, each chromosome is duplicated. In meiosis,
there are two rounds of nuclear division resulting in four nuclei and usually four haploid daughter cells, each with half
the number of chromosomes as the parent cell. During meiosis, variation in the daughter nuclei is introduced because of
crossover in prophase I and random alignment at metaphase I. The cells that are produced by meiosis are genetically
unique.
Meiosis and mitosis share similarities, but have distinct outcomes. Mitotic divisions are single nuclear divisions that
produce daughter nuclei that are genetically identical and have the same number of chromosome sets as the original cell.
Meiotic divisions are two nuclear divisions that produce four daughter nuclei that are genetically different and have one
chromosome set rather than the two sets the parent cell had. The main differences between the processes occur in the first
division of meiosis. The homologous chromosomes separate into different nuclei during meiosis I causing a reduction of
ploidy level. The second division of meiosis is much more similar to a mitotic division.

7.2 Errors in Meiosis

The number, size, shape, and banding pattern of chromosomes make them easily identifiable in a karyogram and allow
for the assessment of many chromosomal abnormalities. Disorders in chromosome number, or aneuploidies, are typically
lethal to the embryo, although a few trisomic genotypes are viable. Because of X inactivation, aberrations in sex
chromosomes typically have milder effects on an individual. Aneuploidies also include instances in which segments of a
chromosome are duplicated or deleted. Chromosome structures also may be rearranged, for example by inversion or
translocation. Both of these aberrations can result in negative effects on development, or death. Because they force
chromosomes to assume contorted pairings during meiosis I, inversions and translocations are often associated with
reduced fertility because of the likelihood of nondisjunction.
to the end of a feeding. Foremilk quenches the infant’s thirst, whereas hindmilk satisfies the infant’s appetite.

28.4 Patterns of Inheritance

There are two aspects to a person’s genetic makeup. Their genotype refers to the genetic makeup of the chromosomes found
in all their cells and the alleles that are passed down from their parents. Their phenotype is the expression of that genotype,
based on the interaction of the paired alleles, as well as how environmental conditions affect that expression.
Working with pea plants, Mendel discovered that the factors that account for different traits in parents are discretely
transmitted to offspring in pairs, one from each parent. He articulated the principles of random segregation and independent
assortment to account for the inheritance patterns he observed. Mendel’s factors are genes, with differing variants being
referred to as alleles and those alleles being dominant or recessive in expression. Each parent passes one allele for every
gene on to offspring, and offspring are equally likely to inherit any combination of allele pairs. When Mendel crossed
heterozygous individuals, he repeatedly found a 3:1 dominant–recessive ratio. He correctly postulated that the expression
of the recessive trait was masked in heterozygotes but would resurface in their offspring in a predictable manner.
Human genetics focuses on identifying different alleles and understanding how they express themselves. Medical
researchers are especially interested in the identification of inheritance patterns for genetic disorders, which provides the
means to estimate the risk that a given couple’s offspring will inherit a genetic disease or disorder. Patterns of inheritance
in humans include autosomal dominance and recessiveness, X-linked dominance and recessiveness, incomplete dominance,
codominance, and lethality. A change in the nucleotide sequence of DNA, which may or may not manifest in a phenotype,
is called a mutation.

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 REVIEW QUESTIONS

1. Which event leads to a diploid cell in a life cycle?

a. meiosis
b. fertilization
c. alternation of generations
d. mutation
2. Meiosis produces daughter cells.
a. two haploid
b. two diploid
c. four haploid
d. four diploid
3. At which stage of meiosis are sister chromatids separated from each other?
a. prophase I
b. prophase II
c. anaphase I
d. anaphase II

4. The part of meiosis that is similar to mitosis is .

a. meiosis I
b. anaphase I
c. meiosis II
d. interkinesis
5. If a muscle cell of a typical organism has 32 chromosomes, how many chromosomes will be in a gamete of that
same organism?
a. 8
b. 16
c. 32
d. 64
6. The genotype XXY corresponds to:
a. Klinefelter syndrome
b. Turner syndrome
c. Triplo-X
d. Jacob syndrome
7. Abnormalities in the number of X chromosomes tend to be milder than the same abnormalities in autosomes because
of .
a. deletions
b. nonhomologous recombination
c. synapsis
d. X inactivation
8. Aneuploidies are deleterious for the individual because of what phenomenon?
a. nondisjunction
b. gene dosage
c. meiotic errors
d. X inactivation

9. In addition to codominance, the ABO blood group antigens are also an example of .
a. incomplete dominance
b. X-linked recessive inheritance
c. multiple alleles
d. recessive lethal inheritance

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 10. Zoe parents are normal but she has cystic fibrosis. Which of the following is the most likely explanation?
a. Zoe probably inherited one faulty allele from her father, who is a carrier, and one normal allele from her
mother.
b. Zoe probably inherited one faulty allele from her mother, who must also have cystic fibrosis, and one normal
allele from her father.
c. Zoe must have inherited faulty alleles from both parents, both of whom must also have cystic fibrosis.
d. Zoe must have inherited faulty alleles from both parents, both of whom are carriers.

Point to Ponder:
11. In what ways is meiosis II similar to and different from mitosis of a diploid cell?
12. Individuals with trisomy 21 are more likely to survive to adulthood than individuals with trisomy 18. Based on
what you know about aneuploidies from this module, what can you hypothesize about chromosomes 21 and 18?

CRITICAL THINKING QUESTIONS

13. Explain the advantage that populations of sexually reproducing organisms have over asexually reproducing
organisms?
14. Describe the two events that are common to all sexually reproducing organisms and how they fit into the different life
cycles of those organisms.
15. Explain how the random alignment of homologous chromosomes during metaphase I contributes to variation in gametes
produced by meiosis.
16. Explain why it was essential that Mendel perform his crosses using a large sample size?
17. How can a female carrier of an X-linked recessive disorder have a daughter who is affected?

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