LECTURE 7 : 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.

Mendels peas

Mendel looked at seven traits or characteristics of

pea plants:

 In 1866 he published Experiments in Plant

Hybridization, (Versuche ber PflanzenHybriden) in which he established his three
Principles of Inheritance
He tried to repeat his work
in another plant, but didnt
work because the plant
reproduced asexually! If
Work was largely ignored for
34 years, until 1900, when
3 independent botanists
rediscovered Mendels 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
true breeding,
homozygous plants:

F1 generation
is heterozygous:

TT tt
(tall)

(dwarf)

Tt
(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)

TT tt

t
t

Tt

Tt

Genotypes:
100% T t

Tt

Phenotypes:
100% Tall plants

Tt

Monohybrid cross: F2 generation

If you let the F1 generation self-fertilize, the next
monohybrid cross would be:
Tt Tt
(tall)

T
t

TT

Tt

Tt

tt

(tall)

Genotypes:
1 TT= Tall
2 Tt = Tall
1 tt = dwarf
Genotypic ratio= 1:2:1
Phenotype:
3 Tall
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

Once you have the gametes

T

Tt

Tt

Tt

Tt

Shortcut for Punnett Square

If either parent is HOMOZYGOUS
T

t
t

Tt

You only need one box!

Genotypes:
100% T t
Phenotypes:
100% Tall plants

Understanding the shortcut

t

t
t

T
T

Tt
Tt

Tt
Tt

=
Genotypes:
100% T t
Phenotypes:
100% Tall plants

Tt

If you have another cross

A heterozygous with a homozygous
T

You can
still use the
shortcut!

t
t

T
t

Tt
t t

Genotypes:
50% T t
50 % t t
Phenotypes:
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

P
p

Pp

PP

Pp

Pp

pp

Genotypes:
1 PP
2 Pp
1 pp
Phenotypes:
3 Purple
1 White

Mendels 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

Mendels 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 = normal
C c = carrier, no symptoms
c c = has cystic fibrosis

CC

Cc

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 TtPp
T P and t p
TP TtPp

tp

TtPp
TtPp

TtPp
TtPp

TtPp
TtPp

TP TtPp

TtPp

TtPp

TtPp

TP TtPp

TtPp

TtPp

TtPp

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

tp

tp

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)

Possible gametes:
TP Tp tP tp

(tall, purple)

TP

Tp

tP

TP TTPP TTPp TtPP

tp

Tp TTPp 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 TTPP TTPp TtPP

3 Tall

3 Short
1 Short

white

tp

Tp TTPp TTpp TtPp

TtPp
Ttpp

tP

TtPP

TtPp

ttPP

ttPp

tp TtPp

Ttpp

ttPp

ttpp

purple
white

Phenotype Ratio = 9:3:3:1

Dihybrid cross: 9 genotypes

Genotype ratios (9):
1
TTPP
2
TTPp
2
TtPP
4
TtPp
1
TTpp
2
Ttpp
1
ttPP
2
ttPp
1
ttpp

Four Phenotypes:
Tall, purple (9)

Tall, white (3)

Short, purple (3)
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
Theres 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

If you get 50% white,

50% purple flowers,
then the unknown
parent was Pp

Pp

Pp

Pp

Pp

Pp

pp

Pp

pp

Dihybrid test cross??

If you had a tall, purple plant, how would you
know what genotype it is?
tt pp

?? ??

1.
2.
3.
4.

TTPP
TTPp
TtPP
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
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
is intermediate.

Rr

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

Rr

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
Mendels 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

Thanks! Remember:
Quiz due on Thursday, February 19th.
Review Session: Friday, February 20
TBA.
Exam on Tuesday, February 24th