Human Genetics

Concepts and Applications

Ninth Edition
RICKI LEWIS

Overview of
1 Genetics
PowerPoint® Lecture Outlines
Prepared by Johnny El-Rady, University of South Florida

Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
 Genetics
Is the study of inherited
traits and their variation

Is a life science that

should not be confused
with genealogy
Figure 1.1

Is also an informational science that is

having a huge societal impact

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 Genetics tests were once used solely to diagnose conditions so rare that
doctors could not match a patient’s symptoms to a recognized illness.

Today, taking a genetics test is as simple as ordering a kit on the internet,

swishing a plastic swab inside the mouth, and mailing the collected cell
sample to a testing company or research project.

Example: Eve is curious about her ancestry and future health, so she finds a
company whose test provide clues to both. Her DNA sample is scanned for
variants inherited from her mother against a database of patterns of 20
nations and 200 ethnic groups near Africa. Eve learns that her family on her
mother’s side came from Gambia. Eve must decide what test to dismiss as
frivolous ( ear wax consistency ability to taste bitter food, blue eye color,
baldness, obesity) Cancer and Alzheimer s disease are too remote for a 20 yr
old to think about so she forgets those as well. Eve selects her health test
based on her family history: she has a sister and father who suffer from
respiratory infections. S/he asks for her DNA to be tested for gene variants
that might affect breathing such as Cystic fibrosis, emphysema, asthma, lung
cancer. Reluctantly she checks the boxes for heart and blood vessel diseases
to. Her reasons are she can do something to reduce these risks.

IS genetic testing something that you would do?

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Inherited traits range from the
obvious physical characteristics
to many aspects of heath,
including diseases.
Talents, quirks, behaviors, and
other difficult to define
characteristics might appear to
be inherited if they affect several
family members, but may reflect
a combination of genetic and
environmental influences.

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Some traits attributed
to genetics border on
the silly such as sense
of humor or fondness
for sports

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 History:

Pythagonas (500 BC): proposed that “vapors

derived from various organs united to from a
new individual.
Aristotle: Assigned a “vitalizing” effect to
semen, which was highly purifed blood,
influenced thinking for 2000 years. He
believed that all inheritance came from the
father and the mother merley provided the
material from which the baby was made…this
seemed to imply that all children ought to be
boys he said that a girl was the result of
interference from the mother’s blood
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 History:
William Harvey ( 1578-1657): Studied the development of
chick embryos and was convinced that all animals
must come from eggs EX ovo omnia: “out of eggs
all”….. he attempted to find mammalian eggs by
dissection royal deer…he failed
Oscar Hertwig: observed fertilization has union of single
sperm and a single egg (16th century)
Spontaneous generation: the belief that life arose from
none life…ex inject cucumber with sperm= miniture
human. (17th century)
Late 17th century: sperm and egg were discovered and a
Dutch scientist: Swammmerdam: theorized that sex
cells contained miniature adults, these theories
continued into 18th century.

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 History:
18th century German investigator Wolff offered experimental
evidence that no preformed embryos existed in egg of
chickens.
Charles Darwin (19th century) proposed mechanism of his
theory of Pangenesis: each body part produced minute
particles (gemmules) which were contained in the blood of
entire body, but eventually concentrate in reproductive
organs….Acquired characteristics would be inherited
because as parts of body change, so did the pangenes they
produced.
Ex: champion weight lifter would produce children with strong
arm muscles.
Sir Francis Galton (1883 A cousin of Charles Darwin proposed
the ideal of Eugenics, which was highly believed in and
promoted by the Nazis during world war II.
In 1907 US supreme court mandated the sterilization for
“imbeciles, idiots, convicted rapists, and habitual criminals”

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 History:
 1927 Supreme court justice Oliver Wendel Homes wrote in favor of upholding these
laws with the following:

“It is better for all the world, if instead of waiting to execute degenerate offspring for
crime, or to let them starve for their imbecility, society can prevent those who are
manifestly unfit from continuing their kind…Three generations of imbeciles are
enough.”
 By 1931 involuntary sterilization also applied to “sexual perverts, drug fiends,
drunkards and epileptics” or anyone deemed feeble minded…..this continued
until 1940s.
 Eugenics is the idea to improve the human species by
selective breeding. Positive eugenics refers to the
promotion of breeding of those with favorable
genes,(Nazi germans) and negative eugenics refers to
the discourage or eradication of breeding among those
with undesirable traits ( the jewish people)

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 Eugenics
an effort to breed better human beings
– by encouraging the reproduction of
people with "good" genes and
discouraging those with "bad" genes.

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 Eugenics
The unfiltered story of American eugenics –
primarily through materials from the
Eugenics Record Office at Cold Spring
Harbor, which was the center of American
eugenics research from 1910-1940

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 Eugenics
You may find some of the language and images in
this Archive offensive. Even supposedly "scientific"
terms used by eugenicists were often pervaded
with prejudice against racial, ethnic, and disabled
groups.
Some terms have no scientific meaning today. For
example, "feeblemindedness" was used as a
catch-all for a number of real and supposed
mental disabilities, and was a common "diagnosis"
used to make members of ethnic and racial
minority groups appear inferior.

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 Eugenics
I have made no attempt to censor this
documentary record – to do so would distort
the past and diminish the significance of the
lessons to be learned from this material

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 Better Babies Contests
At the beginning of the 20th century, citizens concerned
about high infant mortality in the United States took up
the call of "baby saving.“
Better Babies Contests addressed this concern for child
welfare and physical development, becoming the first
eugenic competitions held at state fairs.

The first "Scientific Baby Contest" to combine these

standards was initiated by Mary DeGarmo in 1908 at
the Louisiana State Fair..

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With the assistance of Dr.
Jacob Bodenheimer,
measures of contestants'
physical and intellectual
development were carefully
recorded. Winning
contestants often appeared
in graduation gowns and
were presented with
"loving cups" to mark their
achievement

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 Fitter Family Contests
At most contests, competitors submitted an "Abridged Record
of Family Traits," and a team of medical doctors performed
psychological and physical exams on family members.
Each family member was given an overall letter grade of
eugenic health, and the family with the highest grade
average was awarded a silver trophy. Trophies were
typically awarded in three family categories: small (1 child),
medium (2-4 children), and large (5 or more children).

All contestants with a B+ or better received bronze medals

bearing the inscription, "Yea, I have a goodly heritage

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Fitter Family Contests Winners

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 Buck vs. Bell Trial
In the Buck vs. Bell decision of May 2, 1927, the United
States Supreme Court upheld a Virginia statute that
provided for the eugenic sterilization for people considered
genetically unfit. The Court's decision, delivered by Oliver
Wendell Holmes, Jr., included the infamous phrase "Three
generations of imbeciles are enough." Upholding Virginia's
sterilization statute provided the green light for similar laws
in 30 states, under which an estimated 65,000 Americans
were sterilized without their own consent or that of a family
member.

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 Buck vs. Bell Trial
The plaintiff of the case, Carrie Buck, and her mother Emma,
had been committed to the Virginia Colony for Epileptics
and Feeble Minded in Lynchburg, Virginia. Carrie and
Emma were both judged to be "feebleminded" and
promiscuous, primarily because they had both had borne
children out of wedlock. Carrie's child, Vivian, was judged
to be "feebleminded" at seven months of age. Hence, three
generations of "imbeciles" became the "perfect" family for
Virginia officials to use as a test case in favor of the
eugenic sterilization law enacted in 1924.

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 Buck vs. Bell Trial
Buck vs. Bell was flawed in many ways. "Feeblemindeness" is no
longer used in medical terminology; it was clearly a catch-all term
that had virtually no clinical meaning. It is impossible to judge
whether or not Carrie was "feebleminded" by the standards of her
time, but she was not patently promiscuous.
According to Carrie, Vivian's conception was the result of Carrie's
rape by the nephew of her foster parents. She, probably like many
unwed mothers of that time, was institutionalized to prevent
further shame to the family. Just as clearly,
Vivian was no imbecile. Vivian's first grade report card from the
Venable School in Charlottesville showed that this daughter of a
supposed social degenerate got straight "As" in deportment
(conduct) and even made the honor role in April, 1931. She died a
year later of complications following a bout of the measles

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 Circus Performers
Eugenicists were interested in
various human disabilities,
which they thought would give
evidence to support theories of
inherited characteristics.
Though the performers in circus
"freak shows" were intended as
"curiosities," eugenicists
interpreted their disabilities as
examples of degenerate
heredity. They thought such
people should be sterilized or
prevented from marrying.

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 Race Mixing and Marriage Laws
Laws against interracial marriage had existed
in some states since colonial times, but the
number increased after the Civil War.
Charles Davenport's compilation of State
Laws Limiting Marriage Selection, in 1913,
showed that 29 states had laws forbidding
mixed-race marriages. Twenty-two states
had stiff penalties for miscegenation — fines
of up to $2,000 and/or prison terms of up to
10 yea
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 German/Nazi Eugenics
When Hitler came to power in 1933, he charged the
medical profession with the task of implementing a
national program in race hygiene.
The first key element was the enactment, in 1934, of
a law permitting involuntary sterilization of
feebleminded, mentally ill, epileptics, and
alcoholics.
The "marriage laws" of 1935 prohibited unions
between "Aryans" and Jews, as well the
eugenically unfit.

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 German/Nazi Eugenics
By the outbreak of WWII, in 1939, an estimated
400,000 people had been sterilized.
However, in 1940 the need for hospital beds for
wounded soldiers prompted a "final solution" for
"lives not worth living.“
Psychiatrists and medical doctors identified more
than 70,000 mental patients who were poisoned
with carbon monoxide in extermination centers at
psychiatric hospitals.

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 German/Nazi Eugenics
After gassing of mental patients ceased in
1941, medical and other personnel with
euthanasia experience were reassigned to
concentration camps in Poland, where
hydrogen cyanide gas was used to kill Jews,
gypsies, Slavs, and Social Democrats.

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 History:
German Biologist Weisman disproved
pangenesis: he cut tail off mice for 22
generations, yet they continued to
produce offspring with tails.

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 History:
Gregor Mendel known as
father of Genetics (1860s):
He worked with garden
peas and developed 22
pure breeding lines from
which he selected 7 lines
for investigation
He said that some factors
will prevail over other
factors. Today, we call
these factors, Dominant (
prevailing factor) and
Rececssive (non-prevailing
factor). Mendel developed
three basic laws that
govern inheritance.

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Law of Segregation: In the formation of gametes (sex
cells) homologous chromosomes will separate, thus
the genetic traits become separated. The chromosome
number will be reduced from the Diploid (2n) to the
Haploid (n) number.
Law of Independent Assortment: As the chromosomes
separate, they do so in a random fashion; that is, they
separate independently.
Law of Recombination: Separated, haploid (n) gametes
will unite at the time of fertilization, to return the
chromosome number to the diplid (2n)

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Genetic traits are carried on in the nuclear structures
called chromosomes. These traits are coded by nucleic
acids (DNA) at different locations (loci) on the
chromosomes, and we call these traits genes.

Regular, one being contributed by the mother and the

other by the father. We speak of these pairs as being
Homologous chromosomes, because they carry genes
for body cells have the diploid (2n) number of
chromosomes.

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 The chromosomes are in pairs the same genetic traits.
IN most organisms there is one pair of sex
chromosomes, the remaining chromosomes are called
autosomes.
 Man has 46 chromosomes or 23 homologous pairs. 22
pairs are autosomes and one pair is the sex
chromosomes.
 In most organisms, the female has identical sex
chromosomes (XX) and the male has different sex
chromosomes (XY).
 However in the case of fish, moths butterflies,, caddis
flies and birds, the sexes are reversed. The male is XX
and the female is XY.

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 Some terms useful in genetics are:

Homozygous: Both factors on

homologous chromosomes are the
same.
Heterozygous: Factors are different on
homologous chromosomes.
Genotype: Genetic makeup of the cell.
Phenotype: Appearance…outward
expression of genes.

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CHARACTERISTICS USEFUL FOR
EXPERIMENTAL ORGANISMS
1. Variation: Organisms chosen should show a number of
dectable differences. The larger the number of differing
traits and the more cleasly marked they are, the greater the
usefulness of the species for genetic study.
2. Recombination: Genetic analysis of a species is greatly
expedited if there exists some effective means of combining
in one individual , traits of 2 parents. This permits
comparison of one expression of a characteristic with
another expression of the same trait. Recombination usually
requires sexual reproduction of the test organism, but
asexual reproduction may be used if specialized cells are of
importance. By and large, a means of recombination is
required for genetic study.

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3. Controlled matings: Choose parental lines with particular
purposes in mind, and keep careful records of offspring
through several generations. The study of human genetics
has been largely dependent on pedigree analysis, or studies
of traits in a given family line for several past generations.

4. Short life cycles: Mice, which are sexually mature at 5 or 6

weeks of age and have a gestation period of about 19 to 31
days, are much more useful, for instance, than elephants,
which mature in 8 to 16 years and have a gestation period of
nearly 2 years. EX viruses which infect bacteria under
optimal conditions, generation time is about 20 minutes

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5. large number of offspring: Genetic studies are
greatly speeded up if the organism chosen
produces fairly sizable lots of progeny per mating.
Cattle, with generally one calf per breeding, do not
provide nearly as much information in a given
number of generations as would mice. Obviously,
the larger the number of progeny, the greater the
likelihood of detecting rare events.
6. Convenience of handling: Whales are obviously
less useful in this context than are bacteria.

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 METHODS OF GENETIC STUDY:
1. Planned breeding: in which parents exhibiting
contrasting expressions of the same trait or traits are
mated or crossed and careful records of results are
kept through several generations.
2. Pedigree analysis: used where controlled breeding
programs are impossible. As is customary in
pedigree diagrams, squares represent males, circles
represent females.
3. Statistical analyses: used to predict the probability of
certain results in untried crosses and to provide
degrees of confidence in a theory regarding the
specific genetic mechanism operating in a given
case.

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 Genes
Contain the instructions within the cells for
protein production

Genes are composed of deoxyribonucleic

acid (DNA)

Traits are produced by an interaction

between the genes and their environment
Figure 1.1
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 The Genome
Is the complete set of genetic information
for an organism
It includes all of the genes present in an
organism
- And also DNA sequences that do not
encode genes
Genomics is a field that analyzes and
compares genomes of different species

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 Levels of Genetics

Figure 1.2
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 Deoxyribonucleic Acid (DNA)
A double-stranded polymer consisting of a chain
of nucleotides
Deoxyribonucleotide components:
- Phosphate
- Sugar: Deoxyribose
- Base: Adenine A Guanine G
Thymine T Cytosine C

The sequence of the bases code for the amino

acid sequence in a protein
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 Box, Figure 1

Reading1.1, Figure 1

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 Ribonucleic Acid (RNA)
A single stranded polymer of ribonucleotides
Ribonucleotide components:
- Phosphate
- Sugar: Ribose
- Base: Adenine A Guanine G
Uracil U Cytosine C

Exists in several types

Uses information on DNA to construct proteins

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 Box, Figure 2

Reading 1.1, Figure 2

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 The Human Genome
Only 1.5% of our DNA encodes protein (called
coding DNA)
- About 20,325 protein-encoding genes in all
Rest of the human genome includes highly
repeated sequences with unknown
functionsand are called Noncoding DNA (junk
DNA)
Genes known to cause disorders or traits are
cataloged in a database
- Online Mendelian Inheritance in Man (OMIM)

Proteomics is a field that studies the proteins

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made in a cell
 Genes
Alleles are variants of genes

They form by mutation

Mutations in sperm or egg cells are passed

on to the next generation

Mutations may be positive, negative, or

neutral
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 Variations
Polymorphisms are variations in the DNA
sequence that occur in at least 1% of the
population

Single nucleotide polymorphisms (SNPs)

are single base sites that differ among
individuals
- Can cause disease or act as genomic
markers
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 Variations
Genome-wide association studies track
SNP patterns among individuals who
share a particular trait or disorder

Gene expression profiling measures

which genes are more or less active in
particular cell types

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 Chromosomes
Composed of DNA and protein

Found in the nucleus of the cell

Human somatic cells have 46 chromosomes

- 22 pairs of autosomes
- A pair of sex chromosomes
- Females have two X chromosomes
- Males have one X and a Y
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 Karyotype
A chart displaying the chromosome pairs from
largest to smallest

Figure 1.2
Figure 1.2 52
 Cells
A human body contains approximately 50-100
trillion cells
- All cells except RBCs contain the same genome

Differentiation causes cells to differ in appearance

and function
- Controlled by variation in gene expression

Stem cells are less specialized and can become

many different cell types

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Levels of Biological Organization

Figure 1.3

Figure 1.3 54
 Individual
The genotype of an individual refers to the
alleles they carry

The phenotype is the visible trait

A dominant allele is expressed if the

individual carries just one copy

A recessive allele is only expressed if the

individual carries two copies
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 The Family
Individuals are genetically connected into
families

A pedigree is a diagram used to study traits

in families
- Can be used to trace multiple genes or
genes with large environmental component
- Will be discussed in detail in Chapter 4

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 A Population
Is a group of interbreeding individuals

The gene pool is the sum of all alleles in a

population

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 Evolution
Genome comparisons among species tries to
reveals evolutionary relationships

Humans share genes with mice, pufferfish,

fruit flies, yeast, and even bacteria

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Figure 1.4

Figure 1.4 59
Mendelian vs. Multifactorial Traits
Mendelian traits are determined by a single gene
- Their recurrence is predicted based on Mendel’s
laws

Multifactorial traits are determined by one or more

genes and the environment
- Predicting their recurrence is much more difficult

Most traits are multifactorial

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Mendelian vs. Multifactorial Traits

Figure 1.5

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 Genes and Disease Risk
Genetic determinism is the idea that the
expression of an inherited trait is inevitable

This may be harmful or helpful, depending on

its application
- As part of a social policy, it is disastrous
- Knowing genetic risks can help us make
good choices
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 Applications of Genetics
Genetics impacts many areas of our lives

DNA profiling (DNA fingerprinting) looks at

SNPs and short repeated DNA sequences
- It has applications in:
- Forensics
- History and ancestry

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 Forensics
Identification of victims of natural disasters or
terrorist attacks

Matching the DNA of suspects to samples left

at the crime scene

Helping adopted individuals locate blood

relatives
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 History and Ancestry
DNA analysis can flesh out historical details

- Revealing the offspring of Thomas

Jefferson and Sally Hemmings

- Revealing the origins of the Jewish Lemba

of South Africa

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 History and Ancestry

Figure 1.6 Figure 1.7

Figure 1.7 66
 Health Care
Pharmacogenomics is a field that identifies
individual drug reactions based on genetics

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 Health Care
Analysis of single-gene illnesses reveals
many differences from other diseases

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 Health Care
Diseases are increasingly being described in
terms of gene expression patterns

Tracking gene expression can reveal new

information about diseases and show how
diseases are related to each other
- This is not obvious via traditional medicine

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The Diseasome

Figure 1.7 70
 Genetic Testing and Treatment
Tests to identify about 1,200 single-gene
disorders have been available for years
- Direct-to-consumer (DTC) genetic testing

The Genetic Information Non-discrimination

(GINA) act was passed in the US in 2008

Genome information is useful for developing

treatment to genetic and infectious diseases
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 Agriculture
Traditional agriculture is the controlled
breeding of plants and animals

Biotechnology is the use of organisms or

their parts to produce goods and services

Genetically-modified (GM) organisms have

new genes or over- or under-express their
own genes
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 Ecology
Metagenomics is a field that involves
sequencing all of the DNA in a habitat
- The Sargasso Sea
- The Human Microbiome Project

Metagenomic studies may be used to

reconstruct ecosystems

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 A Global Perspective
Genetics and genomics are spawning
technologies that may vastly improve the
quality of life

Human genome information has tremendous

potential for the entire globe
- Individual nations are using approaches
that exploit their particular strengths

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A Global Perspective

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