Introduction to Human

Genetics

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 Gregor Mendel
• G. Mendel carried out his experiments from 1856 to 1863
in a small garden plot nestled in a corner of the St.
Thomas monastery in the town of Brno

• He published the results and his interpretation in its

scientific journal in 1866

• Mendel’s paper contains the first clear exposition of the

statistical rules governing the transmission of hereditary
elements from generation to generation

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Each parent has two copies of the
genetic information=homozygous

Each gamete contains only one

copy of the genetic information

Random fertilization unites one copy

from each parent

So the F1 progeny contains two

different variants (alleles) of the
gene = heterozygous

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Dominance:
All F1 offspring produce round seeds
although their genotype is “Ww” because
“W” is dominant and “w” is recessive

The genotypic ratio of the F2 is

1/4 WW
2/4Ww
1/4ww

The phenotypic ratio of the F2 is

3/4 Smooth
1/4 Wrinkled
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Round vs. Wrinkled: Modern Context

• The gene that determines the shape of a seed encodes

an enzyme, starch-branching enzyme I (SBEI), required
to synthesize a branched-chain form of starch known as
amylopectin

• Round (W) seeds contain amylopectin and shrink

uniformly as they dry

• Wrinkled (w) seeds have a mutation in the starch-

branching enzyme I (SBEI) and cannot make
amylopectin and shrink irregularly

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 Monohybrid Genetic Cross
Both F1 parents are
heterozygous for the
gene.

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 A method to figure out the
Testcross
? genotype of the organism…
Analysis Is this pea WW or Ww?

We cross this organism with one we know is homozygous

recessive. Then, the phenotypes of the can be attributed
solely to the gene they inherited from the Unknown parent.
• If the unknown is WW, all
the progeny of the testcross
will be Ww (dominant)
?
unknown
progeny

• If the unknown is Ww, 1/2

the progeny of the testcross
will be Ww (dominant) and
1/2 the progeny will be ww
(recessive)… As in the case
shown on the right.
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 Dihybrid Cross
• two different traits, such as seed color (yellow vs. green) and seed
shape (round vs. wrinkled) in the same cross = dihybrid cross
• Breed F1 that you know are hybrid for both characteristics

W w G g
W WW Ww G GG Gg
w Ww ww g Gg gg

WG Wg wG wg
WG WWGG WWGg WwGG WwGg
Wg WWGg WWgg WwGg Wwgg
wG WwGG WwGg wwGG wwGg
wg WwGg Wwgg wwGg wwgg
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Phenotypic ratio of 9/16 : 3/16 : 3/16 : 1/16
 Independent Segregation
• The Principle of
Independent
Assortment:
Segregation of the
members of any
pair of alleles is
independent of the
segregation of other
pairs in the
formation of
reproductive cells.
Fig. 2.11
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 Probabilities
Multiplication Rule: The probability that two
independent events, A and B, are realized
simultaneously is given by the product of their
separate probabilities

What fraction would we expect to be

Round AND Green
3/4 x 1/4 =
3/16

Addition Rule: The probability that one or

the other of two mutually exclusive events,
A or B, is the sum of their separate
probabilities

What fraction would we expect to be

(Round and Green) OR (wrinkled and yellow)
3/16 + 3/16 =
6/16
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 Pertubations on the
theme
• Incomplete dominance = the phenotype of the
heterozygous genotype is intermediate between
the phenotypes of the homozygous genotypes

• Codominance means that the heterozygous

genotype exhibits the traits associated with both
homozygous genotypes
(ABO blood groups are specified
• Penetrance refers to the proportion of organisms
by three alleles IA, IB and IO)
whose phenotype matches their genotype for a
given trait. A genotype that is always expressed
has a penetrance of 100 percent MutS and colon cancer

• Epistasis refers to a gene interaction that results

in a modified F2 dihybrid ratio other than 9 : 3 : 3
: 1. One gene essentially masks the expression
of the other.

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Epistasis

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 Complementation
reveals whether two recessive mutations are alleles of different genes

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 Pedigree Analysis
• In humans, pedigree analysis is used to determine
individual genotypes and to predict the mode of
transmission of single gene traits

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 Autosomal Dominant Traits
• Huntington disease is a progressive nerve degeneration, usually beginning
about middle age, that results in severe physical and mental disability and
ultimately in death
• Every affected person has an affected parent
• ~1/2 the offspring of an affected individual are affected

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 Autosomal Recessive Traits
• Albinism = absence of pigment in the skin, hair, and iris of the eyes
• Most affected persons have parents who are not themselves affected; the parents
are heterozygous for the recessive allele and are called carriers
• Approximately 1/4 of the children of carriers are
affected

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Biotechnology & Bioethics

The Bio-Revolution
 Biotechnology
• The application of scientific and engineering
principles to biological agents to provide
goods and services to better human life

• Many moral issues today are centered

around genetic engineering via the
manipulation of DNA
 Ethics
• Moral philosophy

• Discipline concerned with what is

morally good and bad, right and wrong
 Bioethics
• Discipline dealing with the ethical
implications of biological research and
the applications of that research

• Deals with the questions relating to the

appropriate use of new technologies
There are no simple answers
to ethical dilemmas….

• What will cause the greatest good for mankind?

 Eugenics
• An effort to breed better human beings
• Encourage “good genes”
• Discourage “bad genes”
• Fear of history –

Sterilization of the mentally ill in early America

Nazi concentration camps
 Reproductive Cloning
• Creating a genetically identical organism
• Many animals have been successfully
cloned
 Human Cloning
• Clonaid claims that they have the ability to
clone humans
 Therapeutic Cloning
• Cloning Individual Human Cells
• Involves Stem cells – precursor cells that give rise to
specialized cells/multiple tissue types
• Allows for the generation of human tissue and
organs
• Enhances our understanding of human development
and serious medical conditions (cancer, birth
defects, etc)
• Embryonic vs Adult Stem Cells
 PreImplantation Genetic
Diagnosis (PGD)
• Diagnosing inherited genetic disorders “in
vitro”
• Choosing which embryos will be transferred
to the uterus based upon desired traits
• Gender decisions
• “Designer Babies?”
 Genetic Testing
• Individual risk assessment based upon
a person’s DNA profile
• DNA chip identifies genetic
predispositions
• Potential for genetic discrimination
• DNA profiling? DNA banks?
 Transgenic Plants
• Engineered plants that contain novel
genes from other species
• Results in new characteristics that
make plants more desirable and useful
to humans
• Are they safe to eat?
• How do they affect the ecosystem?
 Transgenic Animals
• Engineered animals that contain novel
genes from other species
• Results in animals that are more
desirable and useful to humans
• Are they safe to eat?
• Where do we draw the line?
 Xenotransplantation
• Harvesting organs from animals for
organ transplantation into humans
• Severe Organ donor shortage
• Pigs – Perfect match!
• Do we have the right? PETA
• Dangers of Creating New Human
Viruses
 Finding a Balance
• Focusing on whether or not “we could”
• Instead of whether or not “we should”

Weighing the Pros versus the Cons

Acknowledging the tremendous

responsibilities that must be faced with
the information that we have acquired.
 How is this trait
most likely
inherited?
If individual III5 and III6
have another child,
what’s the probability that
the child will be affected?

Both individuals are carriers (heterozygous)

for the recessive allele, so there is 1/4 chance
the next child will be affected.

If individual III1 and III7

were to have a child,
what’s the probability that
the child will be affected?

IF both individuals are heterozygous for the

recessive allele, there is 1/4 chance the next
child will be affected.

There is a 1/2 chance III1 is a carrier AND a

1/2 chance that III7 is a carrier AND a 1/4
chance that their child would be affected if
they are carriers.

1/2 X 1/2 X 1/4 = 1/16

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How is this trait most If individual III4 and III6 have
a child, what’s the probability Zero
likely inherited? that the child will be affected?

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 If the
“nontaster”
allele is
relatively
common in
the
population,
how is this
trait most
likely
inherited?

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How is this trait
most likely
inherited?

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