LECTURE : GENETICS

• Introduction to Genetics and heredity

• Gregor Mendel – a brief bio
• Genetic terminology (glossary)
• Monohybrid crosses
• Patterns of inheritance
• Dihybrid crosses
• Test cross
• Beyond Mendelian Genetics – incomplete
dominance
 Introduction to Genetics
• GENETICS – branch of biology that deals
with heredity and variation of organisms.

• Chromosomes carry the hereditary

information (genes)
• Arrangement of nucleotides in DNA
• DNA → RNA → Proteins
• Chromosomes (and genes) occur in pairs
Homologous Chromosomes
• New combinations of genes occur in sexual
reproduction
– Fertilization from two parents
 Gregor Johann Mendel
• Austrian Monk, born in what is now Czech Republic in
1822
• Son of peasant farmer, studied
Theology and was ordained
priest Order St. Augustine.
• Went to the university of Vienna, where he
studied botany and learned the Scientific Method
• Worked with pure lines of peas for eight years
• Prior to Mendel, heredity was regarded as a "blending"
process and the offspring were essentially a "dilution"of
the different parental characteristics.
• carried out important studies of heredity - the
passing on of characteristics from parents to
offspring

• Mendel was the first person to succeed in

predicting how traits are transferred from one
generation to the next.
 Mendel’s peas
• Mendel looked at seven traits or characteristics of
pea plants:
Mendel’s Experiments

• When he wanted to breed,

or cross, one plant with
another, Mendel opened
the petals of a flower and
removed the male organs
 Mendel’s Experiments
• He then dusted the female organ with pollen from
the plant he wished to cross it with.
Cross-pollination Pollen
grains

Transfer
pollen

Female Male
part parts
 Mendel’s Experiments
• This process is called cross-pollination. By using this
technique, Mendel could be sure of the parents in his
cross.

• He studied only one trait at a time to control variables,

and he analyzed his data mathematically.

• The tall pea plants he worked with were from populations

of plants that had been tall for many generations and had
always produced tall offspring.

• Such plants are said to be true breeding for tallness.

Likewise, the short plants he worked with were true
breeding for shortness.
 The First Generation (F1)
• A is the offspring of parents that have different
forms of a trait, such as tall and short height.
• Mendel’s first experiments are called monohybrid crosses
because mono means “one” and the two parent plants
differed from each other by a single trait—height.
• Mendel selected a six-foot-tall pea plant that came from a
population of pea plants, all of which were over six feet tall.
• He cross-pollinated this tall pea plant with pollen from a
short pea plant.
• All of the offspring grew to be as tall as the taller parent.
 The Second Generation (F2)
• Mendel allowed the tall plants in this first generation to
self-pollinate.

• After the seeds formed, he planted them and counted

more than 1000 plants in this second generation.

• Three-fourths of the plants were as tall as the tall plants

in the parent and first generations.

• One-fourth of the offspring were as short as the short

plants in the parent generation.
 The Second Generation
• The original parents, the true-
breeding plants, are known as P1
the P1 generation.
Short pea plant Tall pea plant
• The offspring of the parent
plants are known as the F1
F1
generation.
All tall pea plants
• The offspring of two F1
plants crossed with each
other are known as the F2 F2

generation. 3 tall: 1 short

• In 1866 he published Experiments in Plant
Hybridization, (Versuche über Pflanzen-
Hybriden) in which he established his three
Principles of Inheritance
• He tried to repeat his work
in another plant, but didn’t
work because the plant
reproduced asexually! If…
• Work was largely ignored for
34 years, until 1900, when
3 independent botanists
rediscovered Mendel’s work.
• Mendel was the first biologist to use
Mathematics – to explain his results
quantitatively.
• Mendel predicted
The concept of genes
That genes occur in pairs
That one gene of each pair is
present in the gametes
 Genetics terms you need to know:
• Gene – a unit of heredity;
a section of DNA sequence
encoding a single protein
• Genome – the entire set
of genes in an organism

• Alleles – two genes that occupy the same position

on homologous chromosomes and that cover the
same trait (like ‘flavors’ of a trait).
• Locus – a fixed location on a strand of DNA
where a gene or one of its alleles is located.
• Homozygous – having identical genes (one from
each parent) for a particular characteristic.
• Heterozygous – having two different genes for a
particular characteristic.

• Dominant – the allele of a gene that masks or

suppresses the expression of an alternate allele;
the trait appears in the heterozygous condition.
• Recessive – an allele that is masked by a
dominant allele; does not appear in the
heterozygous condition, only in homozygous.
• Genotype – the genetic makeup of an organisms
• Phenotype – the physical appearance
of an organism (Genotype + environment)

• Monohybrid cross: a genetic cross involving a

single pair of genes (one trait); parents differ by a
single trait.
• P = Parental generation
• F1 = First filial generation; offspring from a
genetic cross.
• F2 = Second filial generation of a genetic cross
 Monohybrid cross
• Parents differ by a single trait.
• Crossing two pea plants that differ in stem size,
one tall one short
T = allele for Tall
t = allele for dwarf

TT = homozygous tall plant

t t = homozygous dwarf plant

TT  tt
 Monohybrid cross for stem length:
P = parentals TT  tt
true breeding, (tall) (dwarf)
homozygous plants:

F1 generation Tt
is heterozygous: (all tall plants)
 Punnett square
• A useful tool to do genetic crosses
• For a monohybrid cross, you need a square divided by
four….
• Looks like
a window
pane…
We use the
Punnett square
to predict the
genotypes and phenotypes of
the offspring.
 Using a Punnett Square
STEPS:
1. determine the genotypes of the parent organisms
2. write down your "cross" (mating)
3. draw a p-square

Parent genotypes:
TT and t t

Cross
TT  tt
 Punnett square
4. "split" the letters of the genotype for each parent & put
them "outside" the p-square
5. determine the possible genotypes of the offspring by filling
in the p-square
6. summarize results (genotypes & phenotypes of offspring)

T T
TT  tt
t Genotypes:
Tt Tt
100% T t

Phenotypes:
t Tt Tt 100% Tall plants
 Monohybrid cross: F2 generation
• If you let the F1 generation self-fertilize, the next
monohybrid cross would be:
Tt  Tt
(tall) (tall)
Genotypes:
1 TT= Tall
T t 2 Tt = Tall
1 tt = dwarf
Genotypic ratio= 1:2:1
T TT Tt
Phenotype:
3 Tall
t Tt tt 1 dwarf
Phenotypic ratio= 3:1
 Secret of the Punnett Square
• Key to the Punnett Square:
• Determine the gametes of each parent…
• How? By “splitting” the genotypes of each parent:

If this is your cross T T  t t

The gametes are:

T T t t
Once you have the gametes…
T T  t t

t t

T Tt Tt

T
Tt Tt
 Shortcut for Punnett Square…
• If either parent is HOMOZYGOUS

T T  t t

t Genotypes:
100% T t
T
Tt
Phenotypes:
100% Tall plants
• You only need one box!
 Understanding the shortcut…

t t
t
T Tt Tt
= T Tt

T Genotypes:
Tt Tt
100% T t

Phenotypes:
100% Tall plants
 If you have another cross…
• A heterozygous with a homozygous
T t  t t
You can
still use the
shortcut! t
Genotypes:
50% T t
T Tt 50 % t t

t t Phenotypes:
t 50% Tall plants
50% Dwarf plants
 Another example: Flower color
For example, flower color:
P = purple (dominant)

p = white (recessive)

If you cross a homozygous Purple (PP) with a

homozygous white (pp):
PP  pp

Pp ALL PURPLE (Pp)

Cross the F1 generation:
Pp  Pp

Genotypes:
P p 1 PP
2 Pp
1 pp
P PP Pp
Phenotypes:
p Pp pp 3 Purple
1 White
 Mendel’s Principles
• 1. Principle of Dominance:
One allele masked another, one allele was
dominant over the other in the F1 generation.

• 2. Principle of Segregation:
When gametes are formed, the pairs of
hereditary factors (genes) become separated,
so that each sex cell (egg/sperm) receives
only one kind of gene.
 Human case: CF
• Mendel’s Principles of Heredity apply universally
to all organisms.
• Cystic Fibrosis: a lethal genetic disease affecting
Caucasians.
• Caused by mutant recessive gene carried by 1 in
20 people of European descent (12M)
• One in 400 Caucasian couples will be both
carriers of CF – 1 in 4 children will have it.
• CF disease affects transport
in tissues – mucus is accumulated
in lungs, causing infections.
 Inheritance pattern of CF
IF two parents carry the recessive gene of
Cystic Fibrosis (c), that is, they are
heterozygous (C c), one in four of their
children is expected to be homozygous for
CF and have the disease:
C c

C C = normal C CC Cc
C c = carrier, no symptoms
c c = has cystic fibrosis
c Cc cc
 Probabilities…
• Of course, the 1 in 4 probability of getting the
disease is just an expectation, and in reality,
any two carriers may have normal children.
• However, the greatest probability is for 1 in 4
children to be affected.
• Important factor when prospective parents are
concerned about their chances of having
affected children.
• Now, 1 in 29 Americans is a symptom-less
carrier (Cf cf) of the gene.
 Gaucher Disease
• Gaucher Disease is a rare, genetic disease. It
causes lipid-storage disorder (lipids accumulate in
spleen, liver, bone marrow)
• It is the most common genetic disease affecting
Jewish people of Eastern European ancestry
(1 in 500 incidence; rest of pop. 1 in 100,000)
 Dihybrid crosses
• Matings that involve parents that differ in two
genes (two independent traits)
For example, flower color:
P = purple (dominant)

p = white (recessive)

and stem length:

T = tall t = short
 Dihybrid cross: flower color and
stem length
TT PP  tt pp
(tall, purple) (short, white)

Possible Gametes for parents tp tp tp tp

TP TtPp TtPp TtPp TtPp
T P and t p
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
F1 Generation: All tall, purple flowers (Tt Pp)
 Dihybrid cross: flower color and
stem length (shortcut)
TT PP  tt pp
(tall, purple) (short, white)

Possible Gametes for parents

T P
TP tp
t p Tt Pp

F1 Generation: All tall, purple flowers (Tt Pp)

 Dihybrid cross F2
If F1 generation is allowed to self pollinate,
Mendel observed 4 phenotypes:
Tt Pp  Tt Pp
(tall, purple) (tall, purple)
TP Tp tP tp
Possible gametes:
TP Tp tP tp TP TTPP TTPp TtPP TtPp
Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
Four phenotypes observed
Tall, purple (9); Tall, white (3); Short, purple (3); Short white (1)
 Dihybrid cross

9 Tall purple
TP Tp tP tp
TP TTPP TTPp TtPP TtPp
3 Tall white Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
3 Short purple

Phenotype Ratio = 9:3:3:1

1 Short white
 Dihybrid cross: 9 genotypes
Genotype ratios (9): Four Phenotypes:
1 TTPP
2 TTPp Tall, purple (9)
2 TtPP
4 TtPp
1 TTpp
Tall, white (3)
2 Ttpp
1 ttPP
Short, purple (3)
2 ttPp
1 ttpp Short, white (1)
 Principle of Independent Assortment
• Based on these results, Mendel postulated the
3. Principle of Independent Assortment:
“Members of one gene pair segregate
independently from other gene pairs during
gamete formation”

Genes get shuffled – these many combinations are

one of the advantages of sexual reproduction
Relation of gene segregation to
meiosis…
• There’s a correlation between the movement
of chromosomes in meiosis and the
segregation of alleles that occurs in meiosis
 Test cross
When you have an individual with an unknown
genotype, you do a test cross.
Test cross: Cross with a homozygous recessive
individual.

For example, a plant with purple flowers can

either be PP or Pp… therefore, you cross the
plant with a pp (white flowers, homozygous
recessive)
P ?  pp
 Test cross
• If you get all 100% purple flowers, then the
unknown parent was PP… P P
p Pp Pp

p Pp Pp
•If you get 50% white,
50% purple flowers, P p
then the unknown p Pp pp
parent was Pp…
p Pp pp
 Dihybrid test cross??
If you had a tall, purple plant, how would you
know what genotype it is?

?? ?? tt pp

1. TTPP
2. TTPp
3. TtPP
4. TtPp
 Beyond Mendelian Genetics:
Incomplete Dominance
Mendel was lucky!
Traits he chose in the
pea plant showed up
very clearly…
One allele was dominant over another, so
phenotypes were easy to recognize.

But sometimes phenotypes are not very

obvious…
 INCOMPLETE DOMINANCE : Occurs
when two inherited traits combine and show
up as a third trait.
• What is Incomplete Dominance?
-- Occurs Incomplete dominance is a type of
inheritance in which one allele for a
specific trait is not completely dominant
over the other allele. This results in a
combined phenotype (expressed physical
trait).

Example, if you cross pollinate red and

white snapdragon plants, the dominant
allele that produces the red color is not
completely dominant over the recessive
allele that produces the white color. The
resulting offspring are pink.
 Incomplete Dominance
Snapdragon flowers come in many colors.

If you cross a red snapdragon (RR) with a white

snapdragon (rr)
RR  rr
You get PINK flowers (Rr)!
Genes show incomplete dominance
when the heterozygous phenotype
Rr
is intermediate.
 Incomplete dominance
When F1 generation (all pink flowers) is self
pollinated, the F2 generation is 1:2:1
red, pink, white
Incomplete Dominance

R r
R R R Rr

r Rr rr
 Incomplete dominance
What happens if you cross a pink with a white?

A pink with a red?


 Summary of Genetics
• Chromosomes carry hereditary info (genes)
• Chromosomes (and genes) occur in pairs
• New combinations of genes occur in sexual
reproduction
• Monohybrid vs. Dihybrid crosses
• Mendel’s Principles:
– Dominance: one allele masks another
– Segregation: genes become separated in gamete formation
– Independent Assortment: Members of one gene pair
segregate independently from other gene pairs during gamete
formation