Inheritance

BY SUMAIYA BINTE SALAM

What is Inheritance?

 Inheritance is the process of genetic transmission of characteristics

from parent or ancestor to offspring.
 At fertilization, the nucleus of the sperm joins with the nucleus of
the egg. So, the zygote has half the genes from the father and half
the genes from the mother.
 The nucleus contains threads like chromosomes, which carry the
genes that control all your characteristics.
 The full number of chromosomes is called diploid number (46
chromosomes or 23 pairs).
 But sex cells have haploid chromosomes (23 chromosomes).
 Two gametes combine to form a diploid zygote.
The Process of Fertilisation
 What is a Gene?

 A gene is the basic physical and

functional unit of
heredity. Genes are made up of
DNA ( Deoxyribonucleic acid).
 A single gene is made of a short
length of DNA. So, the long
thread that makes up a
chromosome contains hundreds
of genes.
A DNA molecule

 A DNA molecule is made up of thousands of units,

each called a nucleotide.
 A single nucleotide is made up of three
molecules:
 A phosphate backbone, a sugar and a nitrogen
base.
 A DNA is made up two strands of nucleotides.
 The whole molecule is twisted forming a double
helix
Base Pairing

 DNA molecule is kept together by base pairing

of nucleotides.
 Each pair of bases are held together by
hydrogen bonds.
 The four different bases in DNA are: Thymine
(T), Adenine (A), Cytosine (C), and Guanine (G).
 Adenine(A) pairs with Thymine(T)
 Cytosine (C ) pairs with Guanine (G)
 Although the H-bond holding the two chains
together are weak, there are many of them.
So, altogether they keep the “double helix” in
shape.
Cell division

 Mitosis – takes place in somatic cells

 Meiosis- takes place in gametes
Mitosis

In mammals, body cells are diploid.

The chromosomes need to be copied exactly so that new
cells can be produced for:
 growth
 repair to damaged tissue
 replacement of worn-out cells
 The type of cell division involved is called mitosis.
The diagram in the next slide shows how it works. Let’s look
at what happens to ONE pair of chromosomes during
1. One of the 23 pairs of 3. The cell starts to divide into
chromosomes in the nucleus two. One complete set of
just before the cell is about to chromosomes goes into each of
divide. the two new daughter cells.

2. Each chromosome makes an 4. Two new daughter cells, each

identical copy of itself. For a identical to the cell they came
moment there are 92 from.
chromosomes in the nucleus.
Meiosis

Meiosis is the type of cell division that

produces gametes. A human body cell contains
46 chromosomes arranged in 23 pairs. Human
gametes are haploid – so their nucleus only contains a
single set of 23 unpaired chromosomes.
The diagram in the next slide shows how it works. Let’s
look at what happens to ONE pair of chromosomes
during meiosis:
In meiosis, the daughter cells are
not identical. They are
genetically different and this
contributes to variation.
Mitosis Vs Meiosis

 Meiosis produces four genetically different haploid cells. Unlike

mitosis, meiosis is a reduction division – the chromosome number
is halved from diploid (46 chromosomes in 23 pairs in humans) to
haploid (23 chromosomes in humans).
 DNA

 For most of the time, DNA exists

in the nucleus as thin strands.
When the cells containing nuclei
are ready to divide, the DNA
copies itself then coils and
condenses to form chromosomes.
 Each chromosome is made from
a single molecule of DNA. Each
section of this single molecule of
DNA contains a code for the
production of a
particular protein called a gene.
Alleles

 A gene is a short length of DNA found on a chromosome that codes for

a particular characteristic (expressed by the formation of different
proteins)
 Alleles are variations of the same gene
 For example, the gene for eye colour can have the alleles blue or brown
Genetic Definitions

 As we have two copies of each chromosome, we have two copies of

each gene and therefore two alleles for each gene
 One of the alleles is inherited from the mother and the other from the
father
 This means that the alleles do not have to ‘say’ the same thing
 For example, an individual has two copies of the gene for eye colour
but one allele could code for brown eyes and one allele could
code for blue eyes
 The physical characteristic that can be seen (or found – like blood type)
is called the phenotype
 The combination of alleles that control each characteristic is called
the genotype
Sex Determination

Inheritance of biological sex

 Human body cells have 23 pairs of chromosomes in the nucleus.
Twenty two pairs are known as autosomes, and control characteristics,
but one pair carries genes that determine sex - whether offspring are
male or female:
 males have two different sex chromosomes, X Y
 females have two X chromosomes, XX
Chromosome from a male

 These diagrams are known

as human karyotypes, and
show all the chromosomes
aligned in pairs. The blue
box shows the two sex
chromosomes - these are
different sizes, therefore an
X (larger chromosome) and a
Y (smaller one).
Chromosome from a female

The red box shows the

two sex chromosomes
- these are the same
size, both two X larger
chromosomes.
Genetic Diagram
A genetic
diagram,like a
Punnett square,
shows how alleles
may combine
in zygotes. The
diagram shows
how biological sex
is inherited.

Punnett square showing the inheritance of gender

Sex Determination

The two possible combinations are:

 an X chromosome from the mother and an X chromosome from the
father - producing a girl (female phenotype from the XX genotype)
 an X chromosome from the mother and a Y chromosome from the
father - producing a boy (male phenotype from the XY phenotype)
The ratio of female to male offspring is 1:1 - on average, half of the
offspring will be girls and half will be boys. This can also be converted into
a probability of 50% (XX) and 50% (XY).
This arrangement means that it is the male that determines the sex of the
offspring when fertilization occurs.
Alleles

 Alleles can be dominant or recessive

 A dominant allele only needs to be inherited from one parent in
order for the characteristic to show up in the phenotype
 A recessive allele needs to be inherited from both parents in
order for the characteristic to show up in the phenotype.
 If there is only one recessive allele, it will remain hidden and the
dominant characteristic will show
 If the two alleles of a gene are the same, we describe the individual as
being homozygous (homo = same)
 An individual could
be homozygous
dominant (having two copies
of the dominant allele),
or homozygous
recessive (having two copies
of the recessive allele)
 If the two alleles of a gene are
different, we describe the
individual as
being heterozygous (hetero =
different)
 When completing genetic
diagrams, alleles are
abbreviated to single letters
 The dominant allele is given
a capital letter and the Alleles of a gene can carry the same
recessive allele is given the instructions or different instructions
same letter, but lower case.
 In the example in the previous slide, the phenotypes and genotypes
from left to right would be:
 Phenotype – brown eyes; genotype – BB (homozygous dominant)
 Phenotype – blue eyes; genotype – bb (homozygous recessive)
 Phenotype – brown eyes; genotype – Bb (heterozygous)
 This example shows us that we cannot always tell the genotype of
an individual for a particular characteristic just by looking at the
phenotype – the first and third individuals both have brown eyes (their
phenotype), but they have different genotypes
Let’s test our understanding!

1) For each of the genotypes (AA, Aa or aa) below determine what the
phenotype would be. Purple flowers are dominant to white flowers.
PP_____________ Pp____________ pp_______________
PP- purple flowers, Pp= purple flowers, pp= white flowers

Hairy knuckles are dominant to non-hairy knuckles in humans.

HH_____________ Hh ___________ hh _________________
HH= hairy knuckles, Hh= hairy knuckles, hh= non-hairy knuckles
Bobtails in cats are recessive. Normal tails are dominant.
TT _____________ Tt _________ tt _____________
TT= normal tail, Tt= normal tail, tt= bobtail
2) For each of the following write whether it is homozygous dominant,
heterozygous or homozygous recessive.

Homozygous Dominant
AA _________________________________ Homozygous recessive
gg ___________________________________

Heterozygous
Pp _________________________________ Heterozygous
Ii ______________________________________

Homozygous recessive
tt___________________________________ Homozygous dominant
TT ___________________________________
Punnet Square Word Problems

Use the following information for questions 3-5: In dogs, the gene for fur
color has two alleles. The dominant allele (F) codes for grey fur and the
recessive allele (f) codes for black fur.
 Punnet Square

3) The female dog is heterozygous. The male dog is homozygous

recessive. Figure out the percentage or ratio of possible phenotypes and
genotypes of their puppies by using a Punnett Square
3) The female dog is heterozygous. The male dog is homozygous
recessive. Figure out the percentage or ratio of possible
phenotypes and genotypes of their puppies by using a Punnett
Square
4) The female dog has black fur. The male dog has black fur. Figure out the
phenotypes and genotypes of their possible puppies by using a Punnett
Square.
4) The female dog has black fur. The male dog has
black fur. Figure out the phenotypes and genotypes of
their possible puppies by using a Punnett Square.
5) The female dog is heterozygous. The male dog is heterozygous. Figure
out the phenotypes and genotypes of their possible puppies by using a
Punnett Square.
5) The female dog is heterozygous. The male dog is
heterozygous. Figure out the phenotypes and genotypes of
their possible puppies by using a Punnett Square.
6) In fruit flies, red eyes are dominant (E). White eyes are recessive (e). If
the female fly has white eyes and the male fly has homozygous dominant
red eyes, what are the possible phenotypes and genotypes of their
offspring?
6) In fruit flies, red eyes are dominant (E). White eyes are recessive (e). If
the female fly has white eyes and the male fly has homozygous dominant
red eyes, what are the possible phenotypes and genotypes of their
offspring?
More challenges!

 In dogs, there is a hereditary deafness caused by a recessive gene, “d.”

A kennel owner has a male dog (Gilbert) that she wants to use for
breeding purposes if possible. The dog can hear.
7) What are the two possible genotypes of Gilbert?

Ans: DD and Dd
Mutation

 Mutations are random changes that occur in a gene or a

chromosome
 As a mutation is contained in the DNA, it can be passed on from one
generation to the next, ie. mutations can be inherited.
 Mutations can be caused by a mutagen, like radiation or chemicals.
Inherited Disorders: Cystic Fibrosis

 Cystic fibrosis is an inherited disorder of cell membranes that mainly

affects the lungs and digestive system. They can become clogged with
lots of thick, sticky mucus as too much is produced. Over many years,
the lungs become increasingly damaged and may eventually stop
working properly. A number of treatments are available to help reduce
the problems caused by the condition, but unfortunately average life
expectancy is reduced for people who have it.
 It is caused by a faulty recessive allele on chromosome 7. To be born
with cystic fibrosis, a child has to inherit two copies of this faulty gene -
one from each of their parents. Their parents will not usually have the
condition themselves, because they will only carry one faulty gene and
one that works normally.
In the coming diagram, cystic fibrosis involves:
 the recessive allele (lower case), which can be shown as f
 the dominant allele (capital letter), which can be shown as F
An individual who is homozygous (ff) with the recessive allele will
develop cystic fibrosis. Someone who is heterozygous (Ff) will be a
carrier of the recessive allele, but will not develop cystic fibrosis and have
no symptoms. Someone who is homozygous with the dominant allele (FF)
will not develop cystic fibrosis, as you need two faulty alleles (ff) for the
condition. In this combination, no faulty alleles are present.
Example 1

 In example 1, both parents are heterozygous, Ff. The chance of them

producing a child with cystic fibrosis is 1 in 4, or 25%. The parents
are carriers of the disorder, and it is possible for them to produce a
child with cystic fibrosis, without having it themselves. Carriers have no
symptoms and are usually unaware they are carrying the recessive
allele.
Example 2

 In example 2, only one parent (the father) has a copy of the recessive
allele (Ff). There is no chance of them producing a child with cystic
fibrosis. However, half the possible offspring will be homozygous, FF,
and be unaffected, and half will be heterozygous, Ff and carry the
recessive allele. The ratio of FF to Ff is 1:1 or 50%.
Sickle Cell Anaemia

 Sickle cell anaemia is an inherited disease of

the blood.
 The S-shaped cells are sickle cells and have
abnormal haemoglobin.
 This makes it difficult for the red cells to
carry oxygen.
 This inherited disease is common in West
Africa.
 It is caused by a recessive allele.
 The child inherits the allele from each parent
and is homozygous recessive.
Sickle Cell Anaemia

 The interesting thing is that the heterozygous individual becomes

resistant to malaria! Malaria is a fatal disease caused when a
plasmodium parasite gets into red cells. This microbes don’t affect
sickle shaped blood cells in the same way. So, being heterozygous or a
carrier can be an advantage in malarial regions.
Huntington’s Disease

 This is a rare inherited disease

 It affects about 1 in 20 000.
 It shows up when the patient is 30 to 40 years old.
 The cells of the brain degenerate and the patient makes clumsy and
jerky movements.
 Sufferers become moody and depressed. Their memory is affected and
they eventually become totally disabled.
Huntington’s Disease

 Huntington’s disease is caused by a dominant gene. So, only ONE allele

is necessary to give the disease. So, all the heterozygous people are
sufferers.
 Because the onset of the disease occurs so late, many people may
have produced a family before finding that they have the condition.
Genetic Engineering

 Genetic engineering is changing the traits of one organism by

inserting genetic material from another organism
 The organism receiving the genetic material is said to be ‘genetically
modified’
 The DNA of the organism that now contains DNA from another organism
as well is known as ‘recombinant DNA’
Insulin Production

 Insulin is needed in large

quantities to help treat
diabetes
 Prior to the development
of genetic engineering,
insulin for human use
was collected from pigs
 Bacteria are
now genetically
engineered to produce
human insulin which
can be collected and
purified for use with no
fear of rejection
Insulin Production

 Once some bacteria have been genetically engineered they are grown
in large quantities in a fermenter, also known as bioreactors.
 Each bacterial cell will produce a tiny mass of insulin
 In this way large quantities of insulin protein can be produced,
extracted and purified for use by diabetics
Advantages of Insulin Production by
Genetic Engineering

 Fast
 Cheap
 Bacteria can be grown in a controlled environment
 Disease free
Selective Breeding

 Selective breeding means to select individuals with the

characteristics you want and breed them together
 The process doesn’t stop there though because it’s likely that not all of
the offspring will show the characteristics you want so offspring that
do show the desired characteristics are selected and bred
together
 This process has to be repeated for many successive
generations before you can definitely say you have a ‘new breed’
which will reliably show those selected characteristics in all offspring
Selective Breeding in Plants

 Plants are selectively bred by humans for development of many

characteristics, including:disease resistance in food crops
 increased crop yield
 hardiness to weather conditions
 better tasting fruits
 large or unusual flowers
Selective Breeding in Plants

 An example of a plant that has been selectively bred in multiple ways is

wild brassica, which has given rise to cauliflower, cabbage, broccoli,
brussel sprouts, kale and kohlrabi:
Selective Breeding

 An example of a
plant that has been
selectively bred in
multiple ways is wild
brassica, which has
given rise to
cauliflower, cabbage,
broccoli, brussel
sprouts, kale and
kohlrabi:

An example of selective breeding in

plants
Selective Breeding in Animals

 Selective breeding of animals has been carried out by humans for thousands
of years
 It takes place in the same way as selective breeding of plants
 Individuals with the characteristics you want are bred together (often
several different parents all with the desired characteristics are chosen so
siblings do not have to be bred together in the next generation)
 Offspring that show the desired characteristics are selected and bred
together
 This process is repeated for many successive generations before you
can definitely say you have a ‘new breed’ which will reliably show those
selected characteristics in all offspring
Selective Breeding in Animals

 Animals are commonly selectively bred for various characteristics,

including:
 cows, goats and sheep that produce lots of milk or meat
 chickens that lay large eggs
 domestic dogs that have a gentle nature
 sheep with good quality wool
 horses with fine features and a very fast pace
 An example of an animal
that has been selectively
bred by humans in many
ways to produce breeds
with many different
characteristics is the
domestic dog, all breeds
of which are descended
from wolves

Selective breeding has produced many different breeds of domestic dog