INTRODUCTIO
N GENETICS
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
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.
Mendel’s peas
• Mendel looked at seven traits or characteristics
of pea plants:
• In 1866 he published Experiments in Plant
Hybridization, (Versuche über Pflanzen-
Hybriden) in which he established his
three Principles of Inheritance
• 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
• 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
• 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
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
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 Tt Tt Genotypes
: 100% T t
Phenotype
t Tt Tt
s:
100% Tall
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 =
T TT Tt
dwarf Genotypic
ratio= 1:2:1
Phenotype:
3 Tall
t Tt tt 1 dwarf
Phenotypic ratio=
3:1
Once you have the
gametes…
T T t t
T tt Tt
T Tt Tt
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.
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
(short, white)
tp tp tp
(tall, purple)TtPp TtPp TtPp TtPp
TP
T P and t
Possible
p Gametes for parents TtPp
tp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
TtPp TtPp TtPp TtPp
TP
F1 Generation: All tall, purple (Tt Pp)
flowers
Dihybrid cross: flower color and
stem length (shortcut)
TT PP tt pp
(short, white)
(tall, purple)
Possible Gametes for parents
T P
TP tp
t p Tt P
p
F1 Generation: All tall, purple (Tt Pp)
flowers
Dihybrid cross F2
If F1 generation is allowed to self pollinate,
Mendel observed 4 phenotypes:
Tt Pp
Tt Pp
(tall, purple) TP Tp tP tp
Possible gametes: (tall, purple)
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
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
3 TTpp
Tall, white (3)
4 Ttpp
5 ttPP
Short, purple (3)
6 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
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
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
