LESSON 2- GENETICS

Central Dogma of Molecular Biology

• Central dogma is the process in which the

genetic information flows from DNA to
RNA, to make a functional product
protein.
 DNA replication is the process by which a double-stranded DNA
molecule is copied to produce two identical DNA molecules. Replication
is an essential process because, whenever a cell divides, the two new
daughter cells must contain the same genetic information, or DNA, as the
parent cell.
• https://www.youtube.com/watch?v=Qqe4th
U-os8 DNA REPLICATION
• https://www.youtube.com/watch?v=oefAI2
x2CQM TRANSCRIPTION &
TRANSLATION
 Overview: The Central Dogma
• The central dogma of molecular biology
describes the two-step process, transcription
and translation, by which the information in
genes flows into proteins: DNA → RNA →
protein.
 TRANSCRIPTION: DNA to RNA
Transcription is the process in which a
gene's DNA sequence is copied
(transcribed) to make an RNA molecule.
 TRANSLATION: RNA to Protein

• Translation is the second part of the central

dogma of molecular biology: RNA →
Protein. It is the process in which the
genetic code in mRNA is read,
one codon at a time, to make a protein.
TRANSLATION- RNA to Protein
Genetic code is the term we use for the way that the four bases of
DNA--the A, C, G, and Ts--are strung together in a way that the cellular
machinery, the ribosome, can read them and turn them into a protein.
In the genetic code, each three nucleotides in a row count as a triplet and
code for a single amino acid.
Genetic Vocabulary
 Introduction to Genetics
• GENETICS – branch of biology that deals with heredity and
variation of organisms.

• Character - a heritable feature, such as flower color

• Trait - a variant of a character, such as purple or white
flowers
• Each trait carries two copies of a unit of inheritance, one
inherited from the mother and the other from the father
• Alternative forms of traits are called alleles
 Antagonistic traits

Dominant

Recessive

16
 17

Designer “Genes”
▪Alleles
- Different forms of a Gene (dominant
& recessive)

▪Dominant - Stronger of two genes expressed;

represented by a capital letter. example: (R)

▪Recessive– Weaker of two genes; represented by

a lowercase letter. example: (r)

copyright cmassengale

17
 GENOME VS GENE
GENOME GENE
• The entire set of genes in an • A unit of heredity; a section
organism of DNA sequences
encoding a single protein
 ALLELES AND LOCI
ALLELES LOCI
• Two alternate forms of a • Position of the allele on the
gene on a pair of chromosome.
homologous chromosomes
HOMOZYGOUS VS. HETEROZYGOUS
HOMOZYGOUS
• Inherit to similar alleles
from the parents for a
particular gene
• Ex. Tall allele and tall
allele- TT
short allele and short
allele- tt
HETEROZYGOUS
• Inherit to different alleles
from the parents for a
particular gene
• Ex.tall allele and short
allele- Tt
 DOMINANT VS RECESSIVE
DOMINANT RECESSIVE
• The allele of a gene that • An allele that is masked by a
masks or suppresses the dominant allele; does not
expression of an alternate appear in the heterozygous
allele; the trait appears in condition, only in
the heterozygous condition. homozygous
 More Terminology
▪Genotype – “Gene” genetic makeup of a
trait. Examples: (RR, Rr, rr)
▪Phenotype - the physical characteristics
resulting from a genotype Examples:
(red, white, tall, short)

copyright cmassengale 23
Dominant & recessive alleles (Fig. 10.7):

Phenotype vs Genotype

24
 GENOTYPE VS PHENOTYPE
GENOTYPE PHENOTYPE
• The genetic makeup • The physical appearance
of an organisms of an organism (Genotype
+ environment)
 Phenotype Genotype

Purple
PP
1

Phenotype vs Genotype (homozygous)

Pp
3 Purple (heterozygous)

Pp
(heterozygous)
Purple

pp
1 White 1
(homozygous)

Figure 14.6 Ratio 3:1 Ratio 1:2:1

27
 MONOHYBRID VS DIHYBRID
MONOHYBRID DIHYBRID
• Cross of two different • Cross of two different
true-breeding strains true-breeding strains
(homozygotes) that differ in (homozygotes) that differ in
a single trait. two traits.
 What is a chromosome?
• BIO SCI VIDEOS\CHAPTER4-
GENETICS\GENETICS1\What is a
chromosome_.3gp
 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
• 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
 Monohybrid cross.
• A cross between two parents who
possess different forms of a gene referred
to as a MONOHYBRID INHERITANCE.

* Mrs Smith: Ch11 Monohybrid 37

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
 GENERATIONS

•P = parental generation
•F1 = 1st filial generation, progeny of the P
generation
•F2 = 2nd filial generation, progeny of the F1
generation (F3 and so on)
 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
Tt Tt
T
= T
Tt
Genotypes:
Tt Tt
T 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
Tt 50 % t 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 1 PP
P 2 Pp
1 pp
PP Pp
P
Phenotypes:
p Pp pp 3 Purple
1 White
Monohybrid Practice Problems and Solutions
Straight hair is dominant and curly hair is recessive.
• 1. Diagram a Punnett Square for 2 heterozygous
parents.
• 2. What is the parents’ genotype(s)?
• 3. What is the parents’ phenotypes(s)?
• 4. What is the genotypic ratio for the offspring?
• 5. What is the probability of producing a
curly-haired child? (In percent)
MENDEL’S LAW OF HEREDITY
• LAW OF DOMINANCE

• LAW OF SEGREGATION

• LAW OF INDEPENDENT ASSORTMENT

 LAW OF DOMINANCE
• An organism with alternate forms of a gene
will express the form that is dominant.
• This law states that a cross between
homozygous dominant genes and
homozygous recessive genes will result in a
progeny of heterozygous genes determining
all dominant traits.
• EXAMPLE
Parental genotype: CC x cc
C=curly hair; c=straight hair
Kinds of genes
Genotype of offspring:Cc, Cc, Cc, Cc
Phenotype of offspring: curly,curly,curly curly
Genotype of offspring: 100% Cc
Phenotype of offspring: 100% curly
 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
t P
T
p
P Tt Pp
t p

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

1 Short white Phenotype Ratio = 9:3:3:1

 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
2 ttPp Short, purple (3)

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
 NON-MENDELIAN
INHERITANCE
Genetic interactions that do not
follow complete dominance, are
expressed together, or influence each
other’s expression.
 Incomplete Dominance
• It is a form of intermediate inheritance in
which one allele for a specific trait is not
completely expressed over its paired allele.
This results in a third phenotype in which
the expressed physical trait is a combination
of the phenotypes of both alleles.
• Experimental
• Parental Monohybrid Cross
Design
• True-breeding red (R)
flowered snapdragons were
crossed with true-breeding
white (r) flowered.
•
 Incomplete Dominance
Interpretation
1) Red snapdragons have two alleles of a gene for red pigment.
Expression of both alleles gives the deep red color

2) White snapdragons have two alleles that specify "no pigment".

Expression of both alleles gives no color

3) Pink snapdragons are heterozygous with one red allele; its

expression results in only enough pigment molecules to make
flowers pink.
 Incomplete dominance
What happens if you cross a pink with a white?

A pink with a red?

×
• A red carnation is crossed with a white
carnation and the resulting offspring are all
pink (indicating incomplete dominance).
What would be the result of a cross between
a pink and a white carnation?
 EXAMPLE
• Coat color in mice is incompletely
dominant. Yellow and white-colored mice
are homozygous, while cream-colored mice
are heterozygous. If two cream-colored
mice mate, what phenotypic ratio can we
expect of their offspring? Show the Punnett
Square.
 CODOMINANCE
• It is a form of dominance wherein the
alleles of a gene pair in a heterozygote are
fully expressed. This results in offspring
with a phenotype that is neither dominant
nor recessive.
1. If two plants were crossed to produce a
yellow and blue flower, and if the alleles of
the gene responsible for petal color were
dominant in nature, the flower produced by
the progeny plant would either be yellow
with blue spots or blue with yellow spots.
2. A black sheep and a white sheep mate and
have a grey sheep.
• In some cattle the genes for brown hair (B) and
for white hair (W) are co-dominant. Cattle with
alleles for both brown and white hair, have both
brown and white hairs. This condition gives the
cattle a reddish color, and is referred to as Roan
(BW).
• For each of the following construct a punnett
square and give phenotypic and genotype ratios
of the offspring.
• a) a roan cow and a white bull
• b) a brown cow and a roan bull
• c) a white cow and a roan bull
• d) a roan cow and a roan bull
 Outline
• NON-MENDELIAN INHERITANCE
SEX-LINKED TRAITS
X-link
Y-link
 Objectives
• Define a sex-linked traits and sex link genes
• Differentiate an X-link gene and Y-link
gene
• Construct and interpret Punnett Squares for
sex-linked traits
 Human Karyotype Picture of Human
Chromosomes 22 Autosomes and 2 Sex
Chromosomes
 SEX CELLS
• Organisms that reproduce sexually do so via
the production of sex cells, also called
gametes. In humans, male sex cells are
spermatozoa (sperm cells) and female sex
cells are ova or eggs.
SEX-LINKED INHERITANCE
Sex-linked traits are genetic
characteristics determined by genes,
which are located on sex
chromosomes.
 Autosomal vs. Sex-Linked
•Traits can be either:
•Autosomal: traits (genes) are located on the
non-sex chromosomes
•Sex-Linked: traits (genes) are located on the
sex chromosomes
•Sex chromosomes determine gender (X & Y)
••XX genotype for females
••XY genotype for males
 SEX-LINKED GENES
Genes that are found on the sex chromosomes
are called sex-linked genes. These genes can
be on the X chromosome or on the Y
chromosome.
Y-linked gene –a gene located in the Y
chromosome
X-linked gene- a gene located in the X
chromosome
SEX-LINKED DISORDERS
• Some sex-linked traits are associated
with disorders.
• Most are found on the X chromosome,
Y-linked disorders are rare.
• Males are at a much greater risk for
inheriting sex-disorders because they
only inherit one X, so if the X has the
allele for the disorder, they will suffer
from the disorder.
• Recessive lethal X-linked traits result
in death.
 X-LINKED RECESSIVE
TRAITS
• Sex linked traits are recessive, this means
both x chromosomes must have the gene in
order for the trait to be expressed.
• If only one x chromosome is present (in
males)and has the sex linked gene, then the
trait will be expressed
• A carrier is a person that has the trait on
only one chromosome and does not express
the trait. Carriers of sex linked traits are
always women.
• COLORBLINDNESS
• HEMOPHILIA
• DUCHENNE MUSCULAR DYSTROPHY
• G6PD DEFICIENCY
• A colorblind male marries a normal
female. What are the offspring genotypes
and phenotypes?
(C = normal, c = colorblind)
GENOTYPE FATHER?
GENOTYPE MOTHER?

Xc Y
XC
XC
• A colorblind male marries a normal
female. What are the offspring genotypes
and phenotypes?
(C = normal, c = colorblind)

Xc Y
XC XC Xc XC Y
XC XC Xc XC Y
• A normal male (not colorblind) marries a
carrier. What are the offspring genotypes
and phenotypes?
XC Y
XC
Xc
• A normal male (not colorblind) marries a
carrier. What are the offspring genotypes
and phenotypes?
XC Y
XC XC XC XC Y
Xc Xc Xc Xc Y
• A normal male (not colorblind) marries a
colorblind female. What are the offspring
genotypes and phenotypes?
XC Y
Xc
Xc
• A normal male (not colorblind) marries a
colorblind female. What are the offspring
genotypes and phenotypes?
XC Y
Xc XC Xc Xc Y
Xc XC Xc Xc Y
• 1. A women that is a carrier of hemophilia
marries a hemophiliac man. What is the
probability that their first child will be a
hemophiliac?
• 2. A hemophiliac women has a mother who
is phenotypically normal. What are the
genotypes of her mother and her father?
• 3. What is the probability that a normal
vision women who marries a man who is
color blind , will have a daughter who is
color blind?
 MULTIPLE
ALLELES
Genes that have more than two
alleles

© 2016 Paul Billiet ODWS

 Genes and their alleles

About 30% of the genes in humans are

di-allelic
They exist in two forms, (they have two
alleles)
About 70% are mono-allelic, they only exist
in one form and they show no variation
A few are poly-allelic having more than two
forms.

© 2016 Paul Billiet ODWS

 Combinations

Di-allelic genes can generate 3 genotypes

AA, Aa and aa
Genes with 3 alleles can generate 6 genotypes
(3+2+1)
Genes with 4 alleles can generate 10 genotypes
(4+3+2+1)
Genes with 8 alleles can generate 36 genotypes.

© 2016 Paul Billiet ODWS

 The ABO blood system
Controlled by a tri-allelic gene
6 genotypes

The alleles for antigens on the surface of the red

blood cells
Two of the alleles are codominant to one
another and both are dominant over the third

Allele IA produces antigen A

Allele IB produces antigen B
Allele i produces no antigen.
© 2016 Paul Billiet ODWS
 The ABO blood system
Genotypes Phenotypes (Blood types)
IA IA A
IA IB AB
IAi A
IB IB B
IB i B
ii O
Note:
Blood types A and B have two possible genotypes –
homozygous and heterozygous
Blood types AB and O only have one genotype each.
© 2016 Paul Billiet ODWS