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Chapter 7

PATTERN OF INHERITANCE

Overview

▪ What is inheritance?
▪ What is the relationship
between genes, alleles,
phenotype and genotype?

▪ How does inheritance of

genes influence an
organism’s characteristics?

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What is inheritance?
▪ Inheritance is the
process by which the
traits of parents are
passed to their offspring
▪ Trait: The different
versions of a
characteristic. Example:
blue, green, and brown
eyes

The relationship between genes, alleles,

genotype and genotype
Trait:
eye colour

Phenotype: the physical characteristics of an organism; can be defined

as outward appearance (such as flower color), as behavior…
Phenotype is the collection of traits.

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The relationship between genes, alleles,

genotype and genotype

Gene:
➢ a segment of DNA located at a particular place on a chromosome
➢ encodes the information for the amino acid sequence of a protein
and, hence, a particular trait
Allele: an alternative form of a particular gene.

Location of gene on chromosome is called locus (pl., loci)

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The relationship between genes, alleles,

genotype and genotype

Genotype: the genetic composition of an organism; the

actual alleles of each gene carried by the organism.
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locus (pl., loci): the physical location of

pair of a gene on a chromosome .
homologous
chromosomes
▪ M locus: leaf colour
Both alleles are the same =
M M homozygous
d d
▪ D locus: plant height
Both alleles are the same =
homozygous

a A
▪ A locus: fruit shape
Alleles are different =
heterozygous

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The relationship between genes, alleles, genotype

and genotype

Dominant allele:
✓ an allele that can determine the phenotype of heterozygotes completely.
✓ expressed, regardless of the other allele present
Recessive:
✓ an allele that is expressed only in homozygotes
✓ not expressed in the presence of a dominant allele
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Phenotypes are genetically influenced in

different ways*
▪ Types of genetic inheritance
➢Single gene for one trait
– complete dominance
– incomplete dominance
– codominance
➢Single gene for multiple traits
– multiple traits (pleiotropy)
➢Multiple genes for one trait
– polygenic inheritance
*Environment also influences phenotypes
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Phenotypes are genetically influenced in

different ways*
▪ Types of genetic inheritance
➢Single gene – complete dominance

➢Single gene – incomplete dominance

➢Single gene – codominance
➢Single gene – multiple traits (pleiotropy)
➢Multiple genes – polygenic inheritance

*Environment also influences phenotypes

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Gregor Mendel laid the foundations for

understanding inheritance of single gene traits

▪ Gregor Mendel (1822-1884)

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How are single traits inherited?

True-breeding individuals are homozygous for a given trait.

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How are single traits inherited?

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Mendel’s law of segregation

The principle that each gamete receives only one

of each parent’s pair of alleles of each gene.

Meiosis separates pairs of alleles for any given gene

explain the Mendel’s Law of Segregation

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B: brown eye
b: blue eye

P: BB x Bb
Write the results of this crossing, including genotype and
phenotype

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B: brown eye
b: blue eye

P: BB x Bb
Gametes: B x B, b
F: genotype 1 BB : 1 Bb
phenotype 100% brown eye

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Phenotypes are genetically influenced in

different ways*
▪ Types of genetic inheritance
➢Single gene – complete dominance

➢Single gene – incomplete dominance

➢Single gene – codominance
➢Single gene – multiple traits (pleiotropy)
➢Multiple genes – polygenic inheritance

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Incomplete dominance – heterozygous phenotype

is intermediate between the homozygous dominant
phenotype and homozygous recessive phenotype

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mother
Human hair texture
alleles exhibit
incomplete
dominance C1 C2

C1C1: curly C1 eggs C2

C1C2: wavy father

C1
C2C2: straight

sperm
C1C1 C1C2

C1 C2 C2

C1C2 C2C2

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Phenotypes are genetically influenced in

different ways*
▪ Types of genetic inheritance
➢Single gene – complete dominance

➢Single gene – incomplete dominance

➢Single gene – codominance

➢Single gene – multiple traits (pleiotropy)

➢Multiple genes – polygenic inheritance

*Environment also influences phenotypes

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The ABO Blood System

▪ alleles: A, B, O -> AA, AO, BB, BO, AB, OO

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Phenotypes are genetically influenced in

different ways*
▪ Types of genetic inheritance
➢Single gene – complete dominance

➢Single gene – incomplete dominance

➢Single gene – codominance

➢Single gene – multiple traits (pleiotropy)

➢Multiple genes – polygenic inheritance

*Environment also influences phenotypes

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Pleiotropy
▪ Single gene has multiple phenotypic effects, a
phenomenon called pleiotropy
▪ For example, pleiotropic alleles are responsible for
the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease

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Sickle-Cell Anemia is caused by the substitution of a single

amino acid in the hemoglobin protein in red blood cells. In
homozygous individuals, all hemoglobin is abnormal (sickle-
cell)
Normal RBCs

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Phenotypes are genetically influenced in

different ways*
▪ Types of genetic inheritance
➢Single gene – complete dominance

➢Single gene – incomplete dominance

➢Single gene – codominance
➢Single gene – multiple traits (pleiotropy)
➢Multiple genes – polygenic inheritance

*Environment also influences phenotypes

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Many traits are influenced by more than

one gene
▪ Traits are influenced by interactions among two or
more genes, a process called polygenic
inheritance.
▪ Alleles for different genes act additively to build a
phenotype
▪ Example of polygenic inheritance: Skin color in
humans, human height

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aabbcc
Aabbcc

AABBCC

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Environment influences expression of

genes
▪ Phenotype is not just a result of genotype

▪ Environment plays a key role in many traits, e.g.

skin colour, body size, intelligence, personality

▪ For many traits, genes & environment play a

roughly equal role in determining phenotype

▪ BUT: Effects of the environment are not heritable

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Environmental conditions can affect how genes are

expressed (i.e. variation in traits)

e.g. soil acidity (aluminum availability) & hydrangea

colour

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e.g. the Himalayan rabbit

Gene for black fur expressed in cool areas of body
(has genotype for black fur all over but pigment
only produced if < 34°C)

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How are genes on the same chromosome

inheritance?
▪ Genes on the same chromosome tend to be
inheritance together, a phenomenon called gene
linkage

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Crossing over creates new combination of

linked alleles

▪ Genotype:
Gametes
▪ AaBb produced:
AB
Ab
aB
ab

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How are sex and sex-linked traits

inheritance?
▪ In many animals, an individual’s sex is determined
by sex chromosomes
▪ In mammals, XX: female, XY: male
▪ Genes that are located only on sex chromosomes
are referred as sex-linked.

Human sex chromosomes The Y chromosome (right),

which carries relatively few genes, is much smaller than
the X chromosome (left).

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How are sex and sex-linked traits

inheritance?
➢ In mammals, the Y chromosome carries relatively few
genes.
- The human Y chromosome contains several dozen genes,
many of which play a role in male reproduction.

➢ In contrast, the human X chromosome contains more than

1,000 genes, most of which have no counterpart on the Y
chromosome.
- Most of the genes on the X chromosome determine traits
that are important in both sexes, such as color vision,
blood clotting abilities…

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How are sex and sex-linked traits inheritance?

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Many human traits follow Mendelian patterns of

inheritance

▪ Humans are not good subjects for genetic

research
– Generation time is too long
– Parents produce relatively few offspring
– Breeding experiments are unacceptable

▪ However, basic Mendelian genetics endures

as the foundation of human genetics

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Pedigree Analysis

▪ A pedigree is a family tree that describes the

interrelationships of parents and children
across generations
▪ Inheritance patterns of particular traits can be
traced and described using pedigrees

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Pedigree Analysis

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Recessively Inherited Disorders

▪ Many genetic disorders are inherited in a

recessive manner
▪ These range from relatively mild to life-
threatening

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The Behavior of Recessive Alleles

▪ Recessively inherited disorders show up only in

individuals homozygous for the allele
▪ Carriers are heterozygous individuals who carry
the recessive allele but are phenotypically
normal; most individuals with recessive
disorders are born to carrier parents

▪ Albinism is a recessive condition characterized

by a lack of pigmentation in skin and hair

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Parents
Normal Normal
Aa Aa

Sperm

A a
Eggs
Aa
AA
A Normal
Normal
(carrier)

Aa
Normal aa
a Albino
(carrier)

▪ An enzyme called tyrosinase is needed to produce melanin— the dark

pigment in skin, hair, and the iris of the eye.
▪ If a person is homozygous for an allele that encodes defective
tyrosinase, albinism occurs.
▪ Albinism in humans and other mammals results in very pale skin and
hair.
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▪ If a recessive allele that causes a disease is

rare, then the chance of two carriers meeting
and mating is low
▪ Mating between close relatives increase the
chance of mating between two carriers of the
same rare allele

▪ Most societies and cultures have laws against

marriages between close relatives

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Dominantly Inherited Disorders

▪ Some human disorders are caused by

dominant alleles
▪ Dominant alleles that cause a lethal disease
are rare and arise by mutation

▪ Achondroplasia is a form of dwarfism caused

by a rare dominant allele

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Parents
Dwarf Normal
Dd dd

Sperm

D d
Eggs
Dd dd
d Dwarf Normal

Dd dd
d Dwarf Normal

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Huntington’s Disease: A Late-Onset Lethal Disease

▪ The timing of onset of a disease significantly

affects its inheritance
▪ Huntington’s disease is a degenerative disease
of the nervous system

▪ The disease has no obvious phenotypic effects

until the individual is about 35 to 40 years of age
▪ Once the deterioration of the nervous system
begins the condition is irreversible and fatal

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Some human genetic disorders are sex-linked

Hemophilia

●also known as "bleeder's disease", blood does not clot properly

●disease was present in the royal family, starting with Queen Victoria

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Alterations of chromosome number or structure

cause some genetic disorders

▪ Large-scale chromosomal alterations in humans

and other mammals often lead to spontaneous
abortions (miscarriages) or cause a variety of
developmental disorders

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Abnormal Chromosome Number: Aneuploidy

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Down Syndrome (Trisomy 21)

▪ Down syndrome is an aneuploid condition that results from
three copies of chromosome 21
▪ Down syndrome: common characteristics include learning
disabilities, distinctively shaped eyelids, a small mouth, heart
defects, and low resistance to infectious diseases
▪ The frequency of Down syndrome increases with the age of
the mother.

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Aneuploidy of Sex Chromosomes

▪ Monosomy X, called Turner syndrome, produces

X0 females, who are sterile
▪ Klinefelter syndrome is the result of an extra
chromosome in a male, producing XXY individuals
▪ Females with trisomy X (XXX) have no unusual
physical features except being slightly taller than
average

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Fetal Testing

▪ In amniocentesis, the liquid that bathes the

fetus is removed and tested
▪ In chorionic villus sampling (CVS), a sample
of the placenta is removed and tested

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(a) Amniocentesis (b) Chorionic villus sampling (CVS)

1 Ultrasound monitor
Ultrasound
Amniotic monitor
fluid
withdrawn Fetus 1
Placenta Suction
Fetus
Placenta Chorionic villi tube
Cervix inserted
Uterus Cervix through
Uterus cervix
Centrifugation

Fluid Several hours Several

Biochemical hours
Fetal 2 and genetic
Several Fetal cells
cells tests
weeks
2

Several weeks Several hours

3

Karyotyping

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