IGSCE BIOLOGY
(0610)
NOTES DESIGNED BY
MS AISHA QADIR
CHAPTER
INHERITANCE
# 17
Set the difference between champion and second place
THE STRUCTURE OF GENES
Inheritance of Chromosomes, Genes and DNA
Inheritance is the transmission of genetic information from generation to generation
Chromosomes are located in the nucleus of cells
They are thread-like structures of DNA, carrying genetic information in the form of
genes
A gene is a short length of DNA found on a chromosome that codes for a specific
protein
This could be a structural protein such as collagen found in skin cells, an enzyme or
a hormone
Genes control our characteristics as they code for proteins that play important roles
in what our cells do
Think about zooming into the nucleus of a cell, as shown in the diagram below
On the right is the zoomed-out view
Which zooms in as we read across the diagram right-to-left
Alleles are different versions of a particular gene. The ABO gene for blood group
type has three alleles, IA, IB and IO
Alleles give all organisms their characteristics
XX & XY CHROMOSOMES
Sex is determined by an entire chromosome pair (as opposed
to most other characteristics that are just determined by one
or a number of genes)
Females have the sex chromosomes XX
Males have the sex chromosomes XY
As only a father can pass on a Y chromosome, he is
responsible for determining the sex of the child
He does this because
He produces (ejaculates) around 250 million sperm cells during
sexual intercourse
Of those, half (125 million sperm) will be carrying his X
chromosome
If one of these sperm fertilises the egg, the fetus will be female
The other 125 million of his sperm will be carrying his Y
chromosome
Which will result in a male fetus if one of these fertilises the egg
XX & XY CHROMOSOMES
DNA BASE SEQUENCE TO AMINO ACID SEQUENCE
The DNA Base Sequence Determines the Amino Acid Sequence in Protein
The DNA code (a series of bases) is converted into proteins (a series of amino acids)
The process of protein synthesis has two stages
Transcription (rewriting the base code of DNA into bases of RNA
Translation (using RNA base sequence to build amino acids into sequence in a protein)
Therefore, the sequence of bases in a gene determines the sequence of amino acids that make a
specific protein
Different sequences of amino acids give different shapes and functions to protein molecules
PROTEIN SYNTHESIS
Proteins are made by ribosomes with the sequence
of amino acids controlled by the sequence of bases
contained within DNA
DNA cannot travel out of the nucleus to the
ribosomes (it is far too big to pass through a nuclear
pore) so the base code of each gene is transcribed
onto an RNA molecule called messenger RNA (mRNA).
mRNA then moves out of the nucleus and attaches
to a ribosome
The ribosome ‘reads’ the code on the mRNA in
groups of three
Each triplet of bases codes for a specific amino acid
In this way the ribosome translates the sequence of
bases into a sequence of amino acids that make up a
protein
Once the amino acid chain has been assembled, it is
released from the ribosome so it can fold and form the
final structure of the protein
In this way, DNA
controls cell function
by controlling the
production of proteins
The proteins may be
enzymes, antibodies,
or receptors for
neurotransmitters
Although all body cells
in an organism
contain the same
genes, many genes in
a particular cell are
not expressed
because the cell only
makes the specific
proteins it needs
CONTROL OF GENE EXPRESSION
Expression of a gene means whether that gene is transcribed
and translated in a particular cell or not
Most genes are not expressed in a particular cell
They are 'switched off'
Because that
would be a
waste of energy
and other
resources in
the cell
Only the genes
whose proteins are
vital to that cell's
function are
expressed
('switched on')
HAPLOID AND DIPLOID CELLS
All humans have 23 different chromosomes in each cell
In most body cells, not including the gametes (sex cells), we have 2 copies of each chromosome,
leading to a total of 46 chromosomes
Nuclei with two sets of chromosomes are known as diploid nuclei
The gametes (egg and sperm cells) only have one copy of each chromosome, meaning they have a
total of 23 chromosomes in each cell
Nuclei with one set of unpaired chromosomes are known as haploid nuclei
MITOSIS
Most body cells have two copies of each chromosome
We describe these cells as diploid
When cells divide their chromosomes double beforehand
This ensures that when the cell splits in two, each new cell still has two copies of each chromosome (is still
diploid)
This type of cell division is used for growth, repair of damaged tissues, replacement of cells and asexual
reproduction and is known as mitosis
Mitosis is defined as nuclear division giving rise to genetically identical cells
Process:
Just before mitosis, each chromosome in the nucleus copies itself exactly (forms x - shaped chromosomes)
Chromosomes line up along the centre of the cell where cell fibers pull them apart
The cell divides into two; each new cell has a copy of each of the chromosomes
MITOSIS
Importance:
All cells in the body (excluding gametes) are produced by mitosis of the zygote
Mitosis is important for replacing cells e.g, skin cells, red blood cells and for allowing growth (production
of new cells e.g. when a zygote divides to form an embryo)
Occurs in:
Growth: mitosis produces new cells
Repair: to replace damaged or dead cells
Asexual reproduction: mitosis produces offspring that are genetically identical to the parent
MITOSIS & STEM CELLS
Many tissues in the human body contain a small number of unspecialised cells
These are called stem cells and their function is to divide by mitosis and produce new daughter cells that
can become specialised within the tissue and be used for different functions
The ultimate stem cell is the zygote
A zygote divides several times by mitosis to become a ball of unspecialised cells (around 200-300 cells)
These are embryonic stem cells
These cells are all the same and start differentiating as the fetus develops with recognisable features
MEIOSIS
Meiosis is a type of nuclear division that gives rise to cells that are genetically different
It is used to produce the gametes (sex cells)
The number of chromosomes must be halved when the gametes (sex cells) are formed
Otherwise there would be double the number of chromosomes after they join at fertilisation in the zygote
(fertilized egg)
This halving occurs during meiosis, and so it is described as a reduction division in which the chromosome
number is halved from diploid to haploid, resulting in genetically different cells
It starts with chromosomes doubling themselves as in mitosis and lining up in the centre of the cell
After this has happened the cells divide twice so that only one copy of each chromosome passes to
each gamete
We describe gametes as being haploid - having half the normal number of chromosomes
Because of this double division, meiosis produces four haploid cells
MEIOSIS
Process:
Each chromosome makes identical copies of itself (forming X-shaped chromosomes)
First division: chromosomes pair up along the centre of the cell, recombination occurs and then cell fibres
will pull the pairs apart, each new cell will have one of each recombinant chromosome pair
Second division: chromosomes will line up along the centre of the cell, cell fibres will pull them apart (as
with mitosis)
A total of four haploid daughter cells will be produced
Importance:
Production of gametes e.g. sperm cells and egg cells, pollen grains and ovum
Increases genetic variation of offspring
Meiosis produces variation by forming new combinations of maternal and paternal chromosomes every
time a gamete is made, meaning that when gametes fuse randomly at fertilisation, each offspring will be
different from any others
DIFFERENCES BETWEEN MITOSIS & MEIOSIS
INHERITANCE
Inheritance is the transmission of genetic information from one generation to the next generation
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
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 observable characteristics of an organism (seen just by looking - like eye colour, or found – like blood type)
is called the phenotype
The combination of alleles that control each characteristic is called the genotype
CONCEPT OF DOMINANT AND RECESSIVE ALLELE
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
recessive allele is given the same letter, but lower case
We cannot always tell the genotype of an individual for a particular characteristic just by looking at the phenotype – a phenotype
associated with a dominant allele will be seen in both a dominant homozygous and a dominant heterozygous genotype
If two individuals who are both identically homozygous for a particular characteristic are bred together, they will produce offspring
with exactly the same genotype and phenotype as the parents - we describe them as being ‘pure breeding’ as they will always
produce offspring with the same characteristics
A heterozygous individual can pass on different alleles for the same characteristic each time it is bred with any other individual and
can therefore produce offspring with a different genotype and phenotype than the parents - as such, heterozygous individuals are not
pure breeding
CONCEPT OF DOMINANT AND RECESSIVE ALLELE
MONOHYBRID INHERITANCE
Monohybrid inheritance is the inheritance of characteristics controlled by a single gene (mono = one)
This can be determined using a genetic diagram known as a Punnett square
A Punnett square diagram shows the possible combinations of alleles that could be produced in the offspring
From this the ratio of these combinations can be worked out
Remember the dominant allele is shown using a capital letter and the recessive allele is shown using the same
letter but lower case
Example:
The height of pea plants is controlled by a single gene that has two alleles: tall and short
The tall allele is dominant and is shown as T
The small allele is recessive and is shown as t
‘Show the possible allele combinations of the offspring produced when a pure breeding short plant is bred with a
pure breeding tall plant’
The term ‘pure breeding’ indicates that the individual is homozygous for that characteristic
This shows that there is a 100% chance that all the All of the offspring of the first cross have the same
offspring will be tall genotype, Tt (heterozygous), so the possible combinations of
offspring bred from these are:
There is more variation in this cross, with a 3:1 ratio of tall :
‘Show the possible allele combinations of the offspring short, meaning each offspring has a 75% chance of being tall
produced when two of the offspring from the first cross and a 25% chance of being short
The F2 generation is produced when the offspring of the F1
are bred together’ generation (pure-breeding parents) are allowed to interbreed
‘Show the results of crossing a heterozygous plant with a short plant’
The heterozygous plant will be tall with the genotype Tt
The short plant is showing the recessive phenotype and so must be homozygous recessive - tt
The results of this cross are as follows:
In this cross, there is a 1:1 ratio of tall to short, meaning a 50% chance of the offspring being tall and a
50% chance of the offspring being short
PEDIGREE CHARTS
Family pedigree
diagrams are usually
used to trace the
pattern of inheritance of
a specific characteristic
(usually a disease)
through generations of
a family
This can be used to
work out the probability
that someone in the
family will inherit the
genetic disorder
PEDIGREE CHARTS
Males are indicated by the square shape and females are represented by circles Affected individuals are
red and unaffected are blue Horizontal lines between males and females show that they have produced
children (which are shown underneath each couple) The family pedigree above shows: both males and
females are affected
every generation has affected individuals
That there is one family group that has no affected parents or children
the other two families have one affected parent and affected children as well
TEST CROSS
Breeders can use a test cross to find out the genotype of an organism showing the dominant phenotype
This involves crossing the unknown individual with an individual showing the recessive phenotype - if
the individual is showing the recessive phenotype, then its genotype must be homozygous recessive
By looking at the ratio of phenotypes in the offspring, we can tell whether the unknown individual is
homozygous dominant or heterozygous
‘A plant breeder has a tall plant of unknown genotype. How can they find out whether it is homozygous
dominant or heterozygous?’
The short plant is showing the recessive phenotype and so must be homozygous recessive - tt
TEST CROSS
► If the tall plant is homozygous
dominant, all offspring
produced will be tall
► If the tall plant is
heterozygous, half the
offspring will be tall and the
other half will be short
CODOMINANCE
Codominance occurs when both alleles in heterozygous
organisms contribute to the phenotype
Inheritance of blood group is an example of codominance
There are three alleles of the gene governing this instead of the
usual two
Alleles IA and IB are codominant, but both are dominant to IO
I represents the gene and the superscript A, B and O represent
the alleles
IA results in the production of antigen A in the blood
IB results in the production of antigen B in the blood
IO results in no antigens being produced in the blood
These three possible alleles can give us the following genotypes
and phenotypes:
CODOMINANCE
We can use genetic diagrams to predict the
outcome of crosses that involve codominant
alleles:
‘Show how a parent with blood group A and a
parent with blood group B can produce offspring
with blood group O’
The parent with blood group A has the genotype
IAIO
The parent with the blood group B has the
genotype IBIO
We know these are their genotypes (as opposed
to both being homozygous) as they are able to
produce a child with blood group O and so the
child must have inherited an allele for group O
from each parent
Parents with these blood types have a 25%
chance of producing a child with blood type O
SEX-LINKED CHARACTERISTICS
Alleles on the same chromosome are said to be linked
When alleles that control a particular characteristic are found on the sex chromosomes, we describe the
inheritance that results as ‘sex linked’
In almost all cases, there are only alleles on the X chromosome as the Y chromosome is much smaller
Because males only have one X chromosome, they are much more likely to show sex-linked recessive
conditions (such as red-green colour blindness and haemophilia)
Females, having two copies of the X chromosome, are likely to inherit one dominant allele that masks the
effect of the recessive allele
A female with one recessive allele masked in this way is known as a carrier; she doesn’t have the disease, but
she has a 50% chance of passing it on to her offspring
If that offspring is a male, he will have the disease
The results of a cross between a normal male and a female who is a carrier for colourblindness is as follows:
► In the cross above,
► there is a 25% chance of
producing a male who is
colourblind,
► a 25% chance of producing
a female carrier,
► a 25% chance of producing
a normal female
► and a 25% chance of
producing a normal male
