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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.

 Mendel’s

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

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
 Let’s

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 it’s 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

Mendel’s 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 ¾.
 The probability of getting a
red offspring is ¾.
 The probability of getting a
tall red offspring is
¾ x ¾ = 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
“T’s” = Tt X Tt = 3:1
“R’s” = rr X Rr = 1:1
“G’s” = 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 - Wife’s 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?
 Can’t

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:
 Huntington’s

disease
 Achondroplasia
 Familial Hypercholesterolemia

Inheritance Pattern
 Each

affected individual had
one affected parent.
 Doesn’t 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