Mendel and the

Gene Idea

Inheritance
The

passing of traits from

parents to offspring.
Humans have known about
inheritance for thousands of
years.

Genetics
The

scientific study of the

inheritance.
Genetics is a relatively new
science (about 150 years).

Genetic Theories
1. Blending Theory traits were like paints and mixed
evenly from both parents.
2. Incubation Theory only one parent controlled the traits of
the children.
Ex: Spermists and Ovists
Guess which parent was thought to
control everythin

3. Particulate Model parents pass on traits as

discrete units that retain their
identities in the offspring.

Gregor Mendel
Father

of Modern Genetics.

 Mendels

paper published in
1866, but was not recognized
by Science until the early
1900s.

Reasons for
Mendel's Success
Used

an experimental
approach.
Applied mathematics to the
study of natural phenomena.
Kept good records.

 Mendel

was a
pea picker.
He used peas
as his study
organism.

Why Use Peas?

Short

life span.
Bisexual.
Many traits known.
Cross- and self-pollinating.
(You can eat the failures).

Cross-pollination
Two

parents.
Results in hybrid offspring
where the offspring may be
different than the parents.

Self-pollination
One

flower as both parents.

Natural event in peas.
Results in pure-bred
offspring where the offspring
are identical to the parents.

Used seven
characters,
each with two
expressions
or traits.
Example:
Character height

Traits - tall or
short.

Monohybrid or
Mendelian Crosses
Crosses

that work
with a
single
character at
a time.
Example round X
wrinkled

P Generation
The

Parental generation or the

first two individuals used in a
cross.
Example - Tall X short
Mendel used reciprocal crosses,
where the parents alternated for
the trait.

Offspring
F1

- first filial generation.

F2 - second filial generation,
bred by crossing two F1
plants together or allowing a
F1 to self-pollinate.

Another Sample Cross

P1
F1
F2

Tall X short (TT x tt)

all Tall (Tt)
3 tall to 1 short
(1 TT: 2 Tt: 1 tt)

Results - Summary
In

all crosses, the F1

generation showed only one
of the traits regardless of
which was male or female.
The other trait reappeared in
the F2 at ~25% (3:1 ratio).

Punnett Square
Lets

practice the
punnett
squares for
the crosses
on your note
sheets

How to do a punnett
square

1. Determine the genotypes of your

parents

Genotype = AA, Aa or aa its the actual alleles

2. Set up the square

3. Do the cross
4. Determine your genotype and
phenotype ratios

Phenotype = what you physically see

It is a combination of the genotype and the

environment

 True

breeding yellow (YY) X

true breeding green (yy)

True

breeding tall (TT) X true

breeding short (tt)

Mendel's Hypothesis
1. Genes can have alternate
versions called alleles.
2. Each offspring inherits two
alleles, one from each parent.

Mendel's Hypothesis
3. If the two alleles differ, the
dominant allele is expressed.
The recessive allele remains
hidden unless the dominant
allele is absent.
Comment - do not use the terms
strongest to describe the
dominant allele.

Mendel's Hypothesis
4. The two alleles for each trait
separate during gamete
formation. This now called:
Mendel's Law of Segregation

Law of Segregation

Mendels Experiments
Showed

that the Particulate

Model best fit the results.
Watch the video to help with
this

Helpful Vocabulary
Homozygous

- When the two

alleles are the same (TT/tt).
Heterozygous- When the two
alleles are different (Tt).

Test Cross
Cross

of a suspected
heterozygote with a
homozygous recessive.
Ex: T_ X tt
If TT - all dominant
If Tt - 1 Dominant: 1 Recessive

Dihybrid Cross
Cross

with two genetic traits.

Need 4 letters to code for the
cross.
Ex:

TtRr

Each

Gamete - Must get 1 letter for

each trait.
Ex.

TR, Tr, etc.

Dihybrid Cross
TtRr X TtRr
Each parent can produce 4
types of gametes.
TR, Tr, tR, tr
Cross is a 4 X 4 with 16
possible offspring.

Results
9

Tall, Red flowered

3 Tall, white flowered
3 short, Red flowered
1 short, white flowered
Or: 9:3:3:1

Law of Independent
Assortment
The

inheritance of 1st genetic

trait is NOT dependent on the
inheritance of the 2nd trait.
Inheritance of height is
independent of the
inheritance of flower color.

Probability
Genetics

is a specific
application of the rules of
probability.
Probability - the chance that an
event will occur out of the total
number of possible events.

Genetic Ratios
The

monohybrid ratios are

actually the probabilities of the
results of random fertilization.
Ex: 3:1
75% chance of the dominant
25% chance of the recessive

Rule of Multiplication
The

probability that two

alleles will come together at
fertilization, is equal to the
product of their separate
probabilities.

Example: TtRr X TtRr

The

probability of getting a
tall offspring is .
The probability of getting a
red offspring is .
The probability of getting a
tall red offspring is
x = 9/16

Comment
Use

the Product Rule to

calculate the results of
complex crosses rather than
work out the Punnett Squares.
Ex: TtrrGG X TtRrgg

Solution
Ts = Tt X Tt = 3:1
Rs = rr X Rr = 1:1
Gs = GG x gg = 1:0
Product is:
(3:1) X (1:1) X (1:0 ) = 3:3:1:1

Variations on Mendel
1.
2.
3.
4.
5.

Incomplete Dominance
Codominance
Multiple Alleles
Epistasis
Polygenic Inheritance

Incomplete Dominance
When

the F1 hybrids show a

phenotype somewhere between
the phenotypes of the two
parents.
Ex. Red X White snapdragons
F1 = all pink
F2 = 1 red: 2 pink: 1 white

Result
No

hidden Recessive.
3 phenotypes and
3 genotypes
(Hint! often a dose effect)
Red

= C R CR
Pink = CRCW
White = CWCW

Another example

Codominance
Both

alleles are expressed

equally in the phenotype.
Ex. MN blood group
MM
MN
NN

Result
No

hidden Recessive.
3 phenotypes and
3 genotypes
(but not a dose effect)

Multiple Alleles
When

there are more than 2

alleles for a trait.
Ex. ABO blood group
IA - A

type antigen
IB - B type antigen
i - no antigen

Result
Multiple

genotypes and
phenotypes.
Very common event in many
traits.

Alleles and
Blood Types
Type
A
B
AB
O

Genotypes
IA IA or IAi
IB IB or IBi
I AI B
ii

Comment
Rh

blood factor is a separate

factor from the ABO blood
group.
Rh+ = dominant
Rh- = recessive
A+ blood = dihybrid trait

Epistasis
When

1 gene locus alters the

expression of a second locus.
Ex:
1st gene: C = color, c = albino
2nd gene: B = Brown, b = black

Gerbils

In Gerbils
CcBb X CcBb
Brown X Brown
F1 = 9 brown (C_B_)
3 black (C_bb)
4 albino (cc__)

Result
Ratios

often altered from the

expected.
One trait may act as a
recessive because it is
hidden by the second trait.

Epistasis in Mice

Problem
Wife

is type A
Husband is type AB
Child is type O
Question - Is this possible?
Comment - Wifes boss is type O

Genotypes
Wife:

type A (IA IA , Hh)

Husband: type AB (IAIB, Hh)
Child: type O (IA IA , hh)
Therefore, the child is the
offspring of the wife and her
husband (and not the boss).

Polygenic Inheritance
Factors

that are expressed as

continuous variation.
Lack clear boundaries
between the phenotype
classes.
Ex: skin color, height

Genetic Basis
Several

genes govern the

inheritance of the trait.
Ex: Skin color is likely
controlled by at least 4 genes.
Each dominant gives a
darker skin.

Result
Mendelian

ratios fail.
Traits tend to "run" in families.
Offspring often intermediate
between the parental types.
Trait shows a bell-curve or
continuous variation.

Genetic Studies in
Humans
Often

done by Pedigree charts.

Why?
Cant

do controlled breeding
studies in humans.
Small number of offspring.
Long life span.

Pedigree Chart
Symbols
Male

Female

Person with trait

Sample Pedigree

Dominant Trait

Recessive Trait

Human Recessive
Disorders
Several

thousand known:

Albinism
Sickle

Cell Anemia
Tay-Sachs Disease
Cystic Fibrosis
PKU
Galactosemia

Sickle-cell Disease
Most

common inherited disease

among African-Americans.
Single amino acid substitution
results in malformed hemoglobin.
Reduced O2 carrying capacity.
Codominant

inheritance.

Tay-Sachs
Eastern

European Jews.
Brain cells unable to metabolize
type of lipid, accumulation of
causes brain damage.
Death in infancy or early
childhood.

Cystic Fibrosis
Most

common lethal genetic

disease in the U.S.
Most frequent in Caucasian
populations (1/20 a carrier).
Produces defective chloride
channels in membranes.

Human Dominant
Disorders
Less

common then recessives.

Affects males and females
equally.
Ex:
Huntingtons

disease
Achondroplasia
Familial Hypercholesterolemia

Inheritance Pattern
Each

affected individual had

one affected parent.
Doesnt skip generations.
Homozygous cases show
worse phenotype symptoms.
May have post-maturity onset of
symptoms.

Genetic Screening
Risk

assessment for an
individual inheriting a trait.
Uses probability to calculate
the risk.

Carrier Recognition
Fetal

Testing

Amniocentesis
Chorionic

Newborn

villi sampling

Screening

Fetal Testing
Biochemical

Tests
Chromosome Analysis

Amniocentesis
Administered

between 11 - 14

weeks.
Extract amnionic fluid = cells
and fluid.
Biochemical tests and
karyotype.
Requires culture time for cells.

Chorionic Villi
Sampling
Administered

between 8 - 10

weeks.
Extract tissue from chorion
(placenta).
Slightly greater risk but no
culture time required.

Newborn Screening
Blood

tests for recessive

conditions that can have the
phenotypes treated to avoid
damage. Genotypes are NOT
changed.
Ex. PKU

Newborn Screening
Required

by law in all states.

Tests 1- 6 conditions.
Required of home births
too.

Multifactorial Diseases
Where

Genetic and
Environment Factors interact
to cause the Disease.

Ex. Heart Disease

Genetic
Diet
Exercise
Bacterial

Infection