Campbell Biology: Concepts &
Connections
Tenth Edition
Chapter 9 February 2024
Patterns of Inheritance
Copyright © 2020 Pearson Education, Inc. All Rights Reserved.
Introduction
• As of 2018, over 12 million Americans have sought to learn
about their genetic makeup.
• Within weeks, they receive a report providing a dizzying
array of genetic information.
• The surging popularity of these services proves how
deeply many of us care about our genetic makeup.
Genetic testing
• Sample of an individuals DNA from cells (saliva or blood)
• Usually sequences only certain areas (700,000 regions)
know to differ among individuals and groups. Uses PCR
and SNP (single nucleotide polymorphism) chips.
• autosomal-genetic traits, ancestral history, current
relatives (using matches with apps 18 million people in
their database)
• mitochondrial
• y chromosome
Genetic testing for health risks: in 2017 the FDA
allowed 23and Me to market tests that assessed
genetic risks for the following 10 diseases:
▪ Parkinson's disease, a nervous system disorder impacting movement
▪ Late-onset Alzheimer's disease , a progressive brain disorder that destroys
memory and thinking skills
▪ Celiac disease, a disorder resulting in the inability to digest gluten
▪ Alpha-1 antitrypsin deficiency , a disorder that raises the risk of lung and
liver disease
▪ Early-onset primary dystonia , a movement disorder involving involuntary
muscle contractions and other uncontrolled movements
▪ Factor XI deficiency, a blood clotting disorder
▪ Gaucher disease type 1 , an organ and tissue disorder
▪ Glucose-6-phosphate dehydrogenase deficiency , also known as G6PD, a red
blood cell condition
▪ Hereditary hemochromatosis , an iron overload disorder
▪ Today the number
Hereditary of ,conditions
thrombophilia tested for is 55+
a blood clot disorder
Jessica Boddy https://www.npr.org/sections/health-shots/2017/04/07/522897473/fda-approves-marketing-of-consumer-genetic-tests-for-some-conditions
The Study of Genetics Has Ancient Roots
These are some hypotheses disproved
over time
• Pangenes: Hippocrates’s idea that “pangenes” travel from
each part of an organism’s body to the eggs or sperm is
incorrect because
– the reproductive cells are not composed of particles
from somatic (body) cells and
– changes in somatic cells do not influence gametes.
• The Blending Hypothesis: was rejected because it did not
explain how traits that disappear in one generation can
reappear in later generations.
The Science of Genetics
Began in an Abbey Garden
Heredity is the transmission of traits
from one generation to the next.
Genetics, the scientific study of heredity,
began with Gregor Mendel’s experiments.
– A heritable feature that varies among individuals is
called a character.
– Mendel crossed pea plants and traced traits (variants
of a character) from generation to generation.
– He hypothesized that there are alternative versions of
genes (alleles), the units that determine heritable traits.
The anatomy of a garden pea flower (with one petal
removed to improve visibility)
Mendel’s technique for cross-fertilization of pea plants
1. Remove the stamens
from a parental purple
flower.
2. Transfer the pollen from
the stamen of a white
parental flower to the
carpel of the purple
flower.
3. The pollinated carpel
matures to a pod.
4. Seeds from the pod are
planted.
5. Observe the traits of
the offspring F1
The seven pea characters studied by Mendel
Mendel’s Law of Segregation Describes
the Inheritance of a Single Character
• Mendel developed four hypotheses, described below using
modern terminology.
1. T here are alternative versions of genes (called alleles)
that account for variations in inherited characters.
2. For each character, an organism inherits two alleles of
a gene, one from each parent.
▪An organism that has two identical alleles for a gene
is said to be homozygous for that gene.
▪An organism that has two different alleles for a gene
is said to be heterozygous for that gene.
Mendel’s Law of Segregation Describes
the Inheritance of a Single Character
3. If the two alleles of an inherited pair differ, then one
determines the organism’s appearance and is called
the dominant allele and the other has no noticeable
effect on the organism’s appearance and is called the
recessive allele. Mendel coined these terms.
4. A sperm or egg carries only one allele for each
inherited character because allele pairs separate
(segregate) from each other during the production of
haploid gametes. This statement is called the law of
segregation.
A cross that tracks one character-flower color
Mendel’s hypotheses also explain the
3:1 ratio observed in the F2 generation.
– The F1 hybrids all have a Pp genotype.
– A Punnett square shows the four possible
combinations of alleles that could occur when these
gametes combine.
question: How can two plants with different genotypes for a
particular inherited character be identical in phenotype?
answer: PP or Pp plants have the same phenotype (purple
appearance) but different genotype (DNA).
An explanation of the crosses
Punnett square of F2 generation
Homologous Chromosomes Bear Alleles for Each Character
• Every diploid cell has pairs of homologous chromosomes.
• The chromosomes in a homologous pair carry alleles of
the same genes at the same locations.
If an individual is heterozygous, Bb, for a gene. According to
the law of segregation, each gamete formed by this individual
will have either the B allele or the b allele. Which step in the
process of meiosis is the physical basis for this segregation of
alleles? answer: 1st meiotic division.
Metaphase meiosis one chromatids of the
2 alleles separate
Three gene loci on homologous chromosomes
Mendel’s law of independent assortment is
revealed by tracking two characters that
occur on different chromosomes at once
• A cross between two individuals that are heterozygous for
one character is called a monohybrid cross.
• A dihybrid cross is a cross between two organisms that
are each heterozygous for two characters being followed
(for example seed color and shape)
• Mendel’s law of independent assortment states that the
alleles of a pair segregate independently of other allele
pairs during gamete formation.
Mendel figured out that genes on different
chromosomes (before anyone knew what
chromosomes were) will assort independently
(during meiosis) by counting the number of each
type of offspring from his crosses.
Note: The parental ‘P’ generation in this experiment is pure bred
dominant or recessive for both genes
A dihybrid cross-Independent Assortment (but only if the two
genes are on different chromosomes). 4 different combinations in
the F1 haploid germ cells.
Genetic Traits in Humans Can Be Tracked
Through Family Pedigrees
• The inheritance of many human traits follows Mendel’s
laws.
• Family pedigrees (a family tree) can help determine
individual genotypes.
Straight hairline is recessive. If Libby, who has a widows
peak hairline had a child, which phenotype would allow her to
deduce her own genotype for certain?
Genetic traits in humans can be tracked
through family pedigrees
2 sisters
Kristin Libby
Genotypes and phenotypes
HH-widows peak
hh-straight hairline
Hh-widows peak
Tracing a trait through a family pedigree-a widows peak hairline is dominant
Knowing the phenotypes can you deduce the genotypes?
To begin: note that Al and Beth have the dominant phenotype but have some
children who have the hh recessive phenotype, Al and Beth must be Hh not HH.
Henry and Isabel have the same situation because their daughter Kristin is hh.
Tracing a trait through a family pedigree-a widows peak hairline is dominant
From her
parents results
Libby can’t tell
if she is HH or
Hh. If Libby
has a child
with a straight
hairline Libby
is Hh.
Many Inherited Traits in Humans Are
Controlled by a Single Gene
• The genetic disorders listed on the following slide are
known to be inherited as dominant or recessive traits
controlled by a single gene.
• Most people who have recessive disorders are born to
normal parents who are both heterozygotes—that is,
parents who are carriers of the recessive allele for the
disorder but are phenotypically normal.
Some Autosomal Disorders in Humans
Disorder Major Symptoms
Recessive Disorders Blank
Albinism Lack of pigment in the skin, hair, and eyes
Cystic fibrosis Excess mucus in the lungs, digestive tract, liver; increased
susceptibility to infections; death in early childhood unless
treated
Phenylketonuria (PKU) Accumulation of phenylalanine in blood; lack of normal skin
pigment; developmental disabilities
Sickle-cell disease Sickled red blood cells; damage to many tissues
Tay-Sachs disease Lipid accumulation in brain cells; mental deficiency;
blindness; death in childhood
Dominant Disorders Blank
Achondroplasia Dwarfism
Huntington’s disease Uncontrollable movements; cognitive impairments; strikes in
middle age
Hypercholesterolemia Excess cholesterol in the blood; heart disease
Many Inherited Traits in Humans Are
Controlled by a Single Gene
Peter is a 30-year-old man whose father died of Huntington’s
disease. Neither Peter’s mother nor a much older sister shows
any signs of Huntington’s. What is the probability that Peter
has inherited Huntington’s disease?
Since his father had the disease, there is a 1/2 chance that
Peter received the gene. (The genotype of his sister is
irrelevant to his probability, both are 50/50)
Many Inherited Traits in Humans Are
Controlled by a Single Gene
Why are lethal alleles not eliminated from a population?
• The lethal allele might be recessive, persisting in the
population due to the survival of carriers.
• the lethal allele (like Huntington’s) might be dominant but
is not expressed until after the age of reproduction.
Examples of single-gene inherited traits in humans-
dominant doesn’t always mean more common
Punnett square of offspring produced by parents who
are both carriers for albinism, a recessive disorder
New Technologies Can Provide Insight
into One’s Genetic Legacy
• Carrier screening, fetal testing, fetal imaging, and newborn
screening can provide information for reproductive
decisions but may create ethical dilemmas.
• chorionic villus sampling: early samples tissue from
chorion layer of fetal origin
• amniocentesisesis: later samples amniotic fluid
surrounding fetus for shed cells.
• cell-free fetal DNA fragments: after 10 weeks gestation
fetal DNA circulates in maternal plasma. Mayo clinic
currently uses these tests to screen for trisomies, fetal
sex, deletions and single gene disorders.
Testing a fetus for genetic disorders
“Before a baby is born, early intervention using fetal
surgery can treat life-threatening birth defects and improve
outcomes in some cases. For example, if a baby has been
diagnosed before birth with spina bifida, surgeons might
perform open fetal surgery or a less invasive procedure
using a fetoscope.”
The Mayo Clinic has at least 13 such surgical intervention
procedures.
https://www.mayoclinic.org/tests-procedures/fetal-surgery/about/pac-20384571
Variations on Mendel’s Laws
Not every character is inherited as
simple dominant and recessive.
Characters that occur on the same
chromosome don’t obey the law of
independent assortment.
Incomplete Dominance Results in
Intermediate Phenotypes
• Mendel’s laws are valid for all sexually reproducing
species, but genotype often does not dictate phenotype in
the simple way Mendel’s laws describe.
– Mendel’s pea crosses always looked like one of the two
parental varieties, a situation called complete
dominance.
– For some characters, the appearance of F1 hybrids
falls between the phenotypes of the two parental
varieties. This is called incomplete dominance.
Incomplete dominance in snapdragon
flower color
Why doesn’t the cross above support the blending hypothesis?
Incomplete Dominance:
the F1 generation cross
result of pink flowers
doesn’t support the
blending hypothesis
because the parental
phenotypes show up in
the F2 generation.
Incomplete dominance in human
hypercholesterolemia
Many Genes Have More Than Two
Possible Alleles That May Be Codominant
• The AB O blood group phenotype in humans is controlled
by three alleles that produce a total of four phenotypes: A,
B, AB or O type blood. The genes encode enzymes that
add different carbohydrates to their red blood cell surface
plasma membranes.
• The IA and IB alleles are codominant: Both alleles are
expressed in heterozygous individuals (IAIB), who have
type AB blood.
• There is also an allele called i, which is a mutated allele
that doesn’t encode a working enzyme.
Many Genes Have More Than Two Alleles
That May Be Codominant
Question: Maria has type O blood, and her sister
has type A B blood. The girls know that both of their
maternal grandparents are type A. What are the
genotypes of the girls’ parents?
Type O individuals have 2 alleles written as ii. If
Maria is ii and her sister has AB blood (IA IB) her
parents must be IAi and IBi. Since both of their
mothers parents are type A, their mother is IAi and
their father is IBi.
Alleles for the ABO blood groups
Pleiotropy: A Single Gene May Affect
Many Phenotypic Characters
• Sickle-cell disease is a human example of pleiotropy.
– This disease affects the type of hemoglobin produced
and the shape of red blood cells, and causes anemia
and organ damage.
– Sickle-cell and nonsickle alleles are co-dominant for
the hemoglobin produced (both types are expressed)
and recessive for the anemia phenotype.
– Carriers of sickle-cell disease have increased
resistance to malaria.
Sickle-cell disease, an example of pleiotropy
Polygenic Inheritance: A Single Character
May Be Influenced by Many Genes
Many characters result from polygenic inheritance, in which
a single phenotypic character results from the additive effects
of two or more genes on a single phenotypic character.
Human height (700*), skin color (378*) and intelligence
(1,041*) are examples of polygenic inheritance.
*(appx # of genes)
Single character
The Environment Affects Many Characters
• Many traits are affected, in varying degrees, by both
genetic and environmental factors.
question: If most characters result from a combination of
environment and heredity, why was Mendel able to ignore
environmental influences in his pea plants?
answer: The characters he chose for study were all entirely
genetically determined and all his test subjects were raised
in a similar environment.
The Chromosomal Basis of
Inheritance
Chromosome Behavior Accounts for
Mendel’s Laws
• The chromosome theory of inheritance holds that
– genes occupy specific loci (positions) on chromosomes
and
– chromosomes undergo segregation and independent
assortment during meiosis.
• Mendel’s laws correlate with chromosome separation in
meiosis.
Ratio for 2 genes on
different chromosomes
Ratio for 2 genes on different chromosomes
Exception to Mendels Law:
Genes on the same Chromosome Tend
to Be Inherited Together
• Around 1900 Bateson and Punnett studied plants that did
not show a 9:3:3:1 ratio in the F2 generation. What they
found was an example of linked genes, which
– are located close together on the same chromosome
and tend to be inherited together.
Linked genes in the sweet pea: Purple (P) is dominant/Red (p) is
recessive. Long pollen (L) is dominant/Round pollen (l) is recessive.
Crossed PL x pl and F1 generation was all purple long dominant.
F1 x F1 cross
Didn’t find the expected 9:3:3:1 ratio; they saw 10:1:1:2
The flower color and pollen shape traits were not independently assorted
because they were on the same chromosome
A few purple round and red long offspring due to crossovers during meiosis
9.19 Geneticists Use Crossover Data
to Map Genes
• Recombination frequencies can be used to map the
relative positions of genes on chromosomes.
– A genetic map is an ordered list of the genetic loci
along a chromosome.
– Such a genetic map based on recombinant frequencies
is called a linkage map.
– Early scientists worked out the order of genes on a
chromosome by counting recombination
frequencies in offspring for known linked genes.
Mapping genes from crossover data
The farther away a gene is from another gene on a chromosome the
more chances it will cross over.
A partial genetic map of one fruit fly chromosome
Sex Chromosomes and Sex-
Linked Genes
Chromosomes Determine Sex in Many Species
In mammals, a male has XY sex chromosomes, and a
female has XX.
• The Y chromosome has genes for the development of
testes, whereas an absence of the Y allows ovaries to
develop.
• In addition, human males and females both have 44
autosomes (nonsex chromosomes).
Many non-mammalian species have other chromosomal
systems that determine sex.
In some animals, environmental temperature
determines the sex
– For some reptiles, the temperature at which eggs are
incubated during a specific period of embryonic
development determines whether that embryo will
develop into a male or female.
– Global climate change may therefore impact the sex
ratio of such species.
Sex-linked Genes Exhibit a Unique Pattern of
Inheritance
• A gene located on either sex chromosome is called a sex-
linked gene.
• The X chromosome carries many X-linked genes that
control traits unrelated to sex.
Most X-linked human disorders are
due to recessive alleles and therefore
are seen mostly in males.
– A male receiving a single X-linked recessive allele from
his mother will have the disorder.
– A female must receive the allele from both parents to
be affected.
Hemophilia in the royal family of Russia
The Y Chromosome Provides Clues about
Human Male Evolution, the mitochondria
genome about Maternal Ancestry
• Y chromosomes can provide data about recent human
evolutionary history because they are passed on intact
from father to son.
• Mitochondrial DNA (mtDNA) can be used to trace maternal
ancestry (because mitochondria are characteristically
inherited from the egg).
The Y Chromosome Provides
Clues about Human Male Evolution
• In 2003, geneticists discovered that about 8% of males
currently living in central Asia have Y chromosomes of
striking genetic similarity.
– Further analysis traced their common genetic heritage
to a man living about 1,000 years ago.
– In combination with historical records, the data led to
the speculation that the Mongolian ruler Genghis Khan
may be responsible for the spread of the telltale
chromosome to nearly 16 million male descendants.
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