CHAPTER 5: INHERITANCE

5.1ConceptOfInheritanceBasedOn
MendelsExperiment
GeneticSciencewhichismoresystematicbeganinthemiddle
of19thCenturybasedonprinciplesandevidencefrom
experimentsthatconductedbyGregorMendel.

Heredity: tendency of an individual to resemble his

parents
Variation: the differences between individuals of the
same species

Genetics: the study of how characters are

transferred or inherited from one
generation to the next
2.Mendelsexperiments(MonohybridInheritance)

a.Mendelcross-pollinatedthepeaplantsmanuallyby
brushingpollenfromthewhiteflowerpeaplantsontothe
stigmaofpurpleflowerpeaplants.
b.Hecollectedtheseedsandplantedthem.
c.Alltheseedsgrewtoproducepurpleflower.(F1generation)
d.WhenheplantedtheseedofF1generation,andtheplants
areallowedtoself-pollinated.
e.TheseedsarecollectedandproducedF2generation.
f.oftheoffspringswerepurpleflowerandwerewhite
flower.
Therationofplantwithpurpleflowertowhitefloweris3:1
The first experiment of Mendel considering the inheritance of a
single trait (colour of flower-purple/white) is called monohybrid
cross
Pp Pp

Genotypes:
P p 1 PP
2 Pp
1 pp
P PP Pp

Phenotypic ratio:
p Pp pp 3 Purple : 1 White
3 Conclusions from Mendels experiments:

- There exist hereditary factors within each organism.

- Each characteristic is controlled by a pair of factor.
- During the formation of gametes, the 2 factors
separate and each gamete contain only 1 factor.
- These factors may be dominant or recessive.
- If 2 factors differ, the factor that shows up its effect is
dominant while the other is recessive.
Mendels First Law or Law of segregation

- The characters of a diploid organism are determined by alleles

which occur in pairs.
- 2 alleles of a gene segregate from each other during formation
of gametes.
- Only 1 allele is carried in a gamete and the gametes unite
randomly during fertilization.
- Offspring receives 1 allele from
parent and 1 from parent.
 gene
Allele
Dominant/ Recessive
Homozygous
Heterozygous
genotype
/phenotype
 Dihybrid Inheritance
(a) The inheritance involving a cross between 2 parents that differ in 2
characteristics.
(b) Mendel crossed pure breeds of round and yellow seed with green &
wrinkled seed.
(c) All F1 generation were yellow & round seeds.
(d)F1 hybrid plants were allowed to self-pollinated.
(e)The seeds formed were then planted. These produced the F2 plants.
Hypothesis: Dependent assortment Hypothesis: Independent assortment
P generation RRYY rryy RRYY rryy

Gametes RY ry Gametes RY ry

RrYy RrYy
F1 generation

Sperm Sperm
1 RY 1 ry 1 1 ry
1 1 RY
ry 4 4 4 4
2 RY 2
1
RY
1 4
F2 generation RY RRYY RrYY RRYy RrYy
2
Eggs 1
1 ry
ry 4 RrYY rrYY RrYy rrYy
2 Eggs
9 Yellow
1
Ry 16 round
4 RRYy RrYy RRyy Rryy Green
3
1 16 round
Actual results ry Yellow
4 RrYy rrYy Rryy rryy 3
contradict hypothesis 16 wrinkled
Actual results 1 Green
support hypothesis 16 wrinkled
Mendels Second Law Of Inheritance:
The Law Of Independent Assortment

- 2 or more pairs of alleles segregate independently of one another

during the formation of gametes.
- Traits are inherited by the offspring independent of one another.
 Genotype - the genetic composition
Phenotype - the external appearance

Homozygous (pure-breeding)
with the same alleles in the same character

Heterozygous (hybrid)
with different alleles
Dominant gene (or character)
which expresses its effect even in heterozygous
condition
Recessive gene (or character)
which expresses its effect only in homozygous
condition
Figure 5.3

15
 Offspring from Parents with
Blood Type A and Blood Type B
1.Autosome and Sex Chromosomes
-Two types of chromosomes:

Autosomes: Sex chromosomes:

control characteristics of determine the sex of an
an organism except sex. organism
-Humans somatic cell has 46 chromosomes,
44 autosomes + 2 sex chromosomes (XY or XX)

2. Determination of the sex of a child

- Human male somatic cell has 44
autosomes + XY
- Sperm has only 22 autosomes and X or Y.
-Human female somatic cell has 44 autosomes +
XX
- ovum has only 22 autosomes + X.
Human karyotype

Female Male
The Rhesus Factor

- Rhesus factor is an antigen present

on the surface of RBC.

- Rhesus factor is controlled by a pair of alleles: Rh and rh

- If an individual has the Rhesus factor, he is known as Rh+.
- The genotype of a Rh-positive individual can be either
homozygous dominant (RhRh) or heterozygous (Rhrh)
- If an individual have no Rhesus factor, he is known as Rh-.
- Genotype of a Rh- individual is homozygous recessive (rhrh)
The Rh Issue Mom = Rh- Baby #1 = Rh+
 Some traits are
located on the sex
chromosomes, so the
inheritance of these
traits depends on the
sex of the parent
carrying the trait.
 Most known sex-linked
traits are X-linked
(carried on the X
chromosome). This is
probably because the X
chromosome is much
larger than the Y
chromosome.
 Hereditary Disease
- offspring inherit genetic diseases from their parents.
- caused by defective genes
linked to X chromosomes
located on the autosomes

Sex-linked inheritance
- Some characteristics are controlled by genes located in X
chromosomes.
- Examples of sex-linked diseases
Haemophilia
Colour blindness
Muscular dystrophy
(c) Haemophilia

- Blood clots very slow when there is an injury.

- The patient is lack of blood-clotting factors.
- Hemophiliacs bruise very easily

- Haemophilia is caused by a recessive allele (h) located on X

chromosome.
- The dominant allele for normal blood clotting = XH
The recessive allele for haemopilia = Xh
- The genotype for the blood clotting characteristic:
XH XH = Female, homozygous dominant for normal blood clotting
XH Xh = Female, heterozygous dominant for normal blood clotting, but
she is a carrier
Xh Xh = Female, homozygous recessive for haemophilia
XH Y = Male, with normal blood clotting
Xh Y = Male, with haemophilia
(b) Colour blindness
- A person cannot distinguish certain colours.
E.g: red-green colour blindness.
- Colour blindness is caused by recessive allele (b) located on
X chromosome.
- Dominant allele for normal colour vision = XB
Recessive allele for colour blindness = Xb
- Genotype for blood clotting characteristic:
XB XB = Female, homozygous dominant for normal vision
XB Xb = Female, heterozygous dominant for normal vision,
but she is a carrier because there is one recessive
allele on her
X chromosome which can be inherited by her offspring.
Xb Xb = Female, homozygous recessive for colour blind
XB Y = Male, with normal vision
Xb Y = Male, with colour blind
Colour blind test 1:
A couple has a colorblind daughter.
What are the possible genotypes and phenotypes
of
the parents
daughter: and the daughter?
XcXc - colorblind
Parents: father colorblind : XcY
mother carrier or colorblind :
XCXc or XcXc

Colour blind test 2:

Colorblindness is an X-linked recessive trait. If a father who
is XRY has children with an XrXr mother, what is the
probability (percentage) that a daughter born to the couple
would be colorblind?
a. 0% b. 25% c. 50% d. 75% e. 100%
Duchenne Muscular Dystrophy

sex-linked disorder that results

progressive weakening & loss of
skeletal muscle.

- Affected muscle tissue starts to

break down during childhood.

- Is carried on X chromosome & is

caused by a defective version of
a gene that codes for a muscle
protein.
 Both nondisjunction and
translocation can be detected in
karyotypes
A karyotype is made from taking
individual pictures of all of a
humans chromosomes and
matching up homologous pairs
 a genetic disorder caused by chromosome abnormality
Caused by the presence of an extra autosome,
nondisjunction
Nondisjunction
the person has an extra copy of

chromosome 21 called trisomy 21

Symptoms of Down syndrome:
Mild to severe mental retardation
Short stature
Heart, vision, intestinal problems
Susceptibility to infections
and leukemia
- slanted eyes, protrusion of tongue, short
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Other hereditary disease
(c) Albinism
- Albinism is caused by a defective allele which is involved in the
synthesis of melanin pigment.

- The gene for melanin pigment synthesis is isolated in an autosome

and is mutated.
- The pigment cells from the skin, hair and iris are unable to
synthesis
melanin. Thus, these affected body parts lack melanin pigment.
(c) Sickle cell anemia
- caused by a defective allele which is involved in synthesis of
haemoglobin.
- Gene of haemoglobin synthesis is located in an autosome & has
undergoes mutation.
- RBC form defective haemoglobin that cause RBC to be sickle shape.
- Abnormal haemoglobin then causes RBC to transport less oxygen,
resulting anemia.
- Sickle-shaped RBC are more fragile, break easily and aggregate
together to clog blood capillaries.
(c) Thalassaemia
- a blood disorder that produce abnormal haemoglobin.
- caused by recessive allele.
- Individuals with thalassaemia have either one or both parents
suffering from thalassaemia.
- When one parent has the disease, the child will suffer from
thalassaemia minor.
- When both parents have the disease, the child will suffer from
thalassaemia major.
- Symptoms: mild / severe anemia. long-term anemia. paleness,
jaundice & enlarged spleen, liver & heart.
- can be diagnosed through blood test.
- Thalassaemian may need regular blood transfusions.
- The treatment generally will lead to iron overload.
- Treatment for thalassaemia major is a bone marrow transplant.
 Genetic materials found inside the nucleus of a cell
Made up of DNA & protein
Appear as very thin & thread-like structures called
Chromatins
Each cell in each type of organism has a definite
number of chromosomes
: Diploid Number of chromosomes

1 set of Paternal + 1 set of Maternal

Chromosomes Chromosomes
 A Gene
gene controlling
abasicunitof
skin colour inheritance.
is a short length of
gene controlling
tongue rolling
DNA on a chromosome
which is a unit
chromosome determining an
inherited character
gene controlling
eye colour containsgenetic
gene controlling informationwhich
blood group
determinesaparticular
characteristicinan
 DNA is responsible
for telling the cell
gene controlling
skin colour to make the right
type of protein &
gene controlling
control the
tongue rolling metabolic activities
of the cells
chromosome
Ageneoccupiesa
gene controlling specificposition
eye colour
gene controlling (locus)ina
blood group chromosome.
 Chromosomes always exist in pairs in the body
(somatic) cells

Each human somatic cell has 46

chromosomes
23 pairs of homologous chromosomes
 Members of homologous
chromosomes carry the
allele allele
for for same genes (controlling
white dark the same character) in
skin skin same loci
colour colour
But the genes on the
members of homologous
chromosomes may be of
different forms (effects)
Alleles
Alternative forms of genes on the same
position of the homologous
chromosomes which control the same
character but have different
expressions
The Structure of DNA
 DNA is composed of 4 nucleotides,
each containing: adenine, cytosine,
thymine, or guanine.

DNA is a double-stranded helix

with antiparallel strands [Watson
and Crick].

Nucleotides in each strand are

linked by 5-3 phosphodiester
bonds

Bases on opposite strands are

linked by hydrogen bonding: A
with T, and G with C.
DNA Structure: Nucleotides
How a trait is manifested from the basic unit of inheritance.

Sequence of
Chromosome in DNA is made up nucleotide bases is
nucleus contain DNA of nucleotide called gene

Genetic code contains Gene contains genetic

information to synthesis a information in the form
specific polypeptide chain of genetic code

The protein formed determined the

characteristics of an organism
 DNA fingerprinting

Making DNA Fingerprints

1: Isolation of DNA.

2: Cutting, sizing, and sorting.

Restriction enzymes are used to cut the
DNA at specific places
3: Transfer of DNA to nylon.
The distribution of DNA pieces
is transferred to a nylon sheet
by placing the sheet on the gel
and soaking them overnight.

4-5: Probing.
Adding radioactive probes to the nylon sheet
produces a pattern called DNA fingerprint.
1.Paternity and Maternity
person inherits his or her VNTRs from his or her parents
Parent-child VNTR pattern analysis has been used to solve
standard father-identification cases

Can someone tell me who is my father?

2. Criminal Identification and Forensics
DNA isolated from blood, hair, skin cells, or other
genetic evidence left at the scene of a crime can be
compared

3. Diagnosis of Inherited Disorders

diagnose inherited disorders in both
prenatal and newborn babies
These disorders may include cystic
fibrosis, hemophilia, Huntington's
disease, familial Alzheimer's, sickle cell anemia,
thalassemia.
4 Developing Cures for Inherited Disorders
By studying the DNA fingerprints of relatives who
have a history of some particular disorder
identify DNA patterns associated with the disease

5. identification of Chinese medicine

The Hong Kong Baptist University was able to use
DNA fingerprinting to identify the Chinese medicine
Lingzhi in 2000
Humans use selective breeding to pass desired traits
on to the next generation.
humans decide who will breed instead of nature
Hybrids (heterozygous for a trait)can be used to
increase hardiness of plants.
Inbreeding keeps desired traits within a line of
organisms by breeding related organisms.
Increasing Variation
To increase variation, breeders often introduce mutations
into the population.
Breeders discovered a pumpkin mutation that produced
white Spots.
they eventually able to produce a white pumpkin.
 Biotechnology-Cloning
A clone is a member of a population of genetically
identical cells produced from a single cell.
Dolly-the famous sheep
Cows , Cats and more.
Can we bring back
endangered or even
extinct species?
 Somatic or
body cells has
54
Chromosomes

Egg or ovum
has cells has
27
Chromosomes

Fused cells has 54

tricking the cell into
thinking it got fertilized
by a sperm
 Dolly the sheep
She was cloned at the Roslin Institute in Scotland and
lived there from her birth in 1996 until her death in 2003
when she was six.
This photo is of Dolly and
her first lamb called
Bonnie

Telomeres get
shorter as an
organism ages
 Recombinant DNA technology- Combining genes from
different organisms
The resulting organism is said to be "genetically
"
modified," "genetically
" engineered," or "transgenic
" ."
Insulin -producing bacteria were commercialized in 1982

Plasmid- a DNA molecule that is

separate from, and can replicate
independently of, the chromosomal
DNA
Genetic Engineering-Transgenic
Organisms
Transgenic organisms contain genes from other
organisms.
Making onions glow using jellyfish DNA.
Using bacteria to make human insulin.
Using genetic modification to improve food supply
known as GM foods.
Genetically Modified Food
This is a short list of the genetically modified food
crops that are grown in the US today:

Corn Soy bean Sugar cane

Tomatoes Potatoes Sweet peppers
Bananas Strawberries Zucchini
Pineapples Cocoa beans Yellow squash
Ethical and safety concerns
A major safety concern relates to the human health
implications of eating genetically modified food, in
particular whether toxic or allergic reactions could
occur.[70]
Ethical concerns involve religious issues, corporate
control of the food supply, intellectual property rights
and the level of labeling needed on genetically
modified products.
 Gene Therapy
In gene therapy, an absent or faulty gene is replaced by
a normal, working gene.
gene
During your life time gene therapy has the potential to
almost cure some genetic disorders.
 Human Genome Project

1990-2003 The human genome worked out

Goals of the human genome project

identify all 20,000-25,000 genes in human DNA
determine the sequences of the 3 billion chemical
base pairs that make up human DNA
store this information in databases
improve tools for data analysis
address the ethical, legal, and social issues (ELSI)
that may arise from the project.