CHAPTER 17

INHERITANCE
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
• 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
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
Transcription & Translation
• 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 (codon)
• 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
• 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')
 • In this way, DNA controls cell
function by controlling the production
of proteins
• The proteins may be enzymes,
antibodies, or receptors for neurotran
smitters
• Although all body cells in an organism
contain the same genes, many genes
in a particular cell are not
expressed because the cell only
The triplet code of DNA (carried by mRNA) is read by makes the specific proteins it needs
the ribosome and amino acids are attached together
in a specific sequence to form the protein
https://youtu.be/gG7uCskUOrA?si=rPnW0W1k7f7_uCoJ
 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 Occurs in
• Just before mitosis, each • Growth: mitosis produces new
chromosome in the nucleus cells
copies itself exactly (forms x - • Repair: to replace damaged or
shaped chromosomes) dead cells
• Chromosomes line up along the • Asexual reproduction: mitosis
centre of the cell where cell produces offspring that are
fibers pull them apart genetically identical to the
• The cell divides into two; each parent
new cell has a copy of each of
the chromosomes
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
Process:
Importance:
• Each chromosome makes identical copies
of itself (forming X-shaped chromosomes) Production of gametes e.g. sperm cells
• First division: chromosomes pair up along and egg cells, pollen grains and ovum
the centre of the cell, recombination Increases genetic variation of offspring
occurs and then cell fibres will pull the Meiosis produces variation by
pairs apart, each new cell will have one of forming new combinations of maternal
each recombinant chromosome pair and paternal chromosomes every time a
• Second division: chromosomes will line up gamete is made, meaning that when
along the centre of the cell, cell fibres will gametes fuse randomly at fertilisation,
pull them apart (as with mitosis)
each offspring will be different from any
• A total of four haploid daughter cells will
others
be produced
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
• Alleles are versions, or forms, of a gene
• Chromosomes exist in matching pairs, so individuals have two
copies of each gene and therefore two alleles of each gene
• One of the alleles is inherited from the mother and the other from the
father
• For example, an individual has two copies of the gene for eye
colour; these alleles could be identical, or they could be
different
• The observable characteristics of an organism is called the phenotype
• The combination of alleles that control each characteristic is called
the genotype
• 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 notated as single
letters
• The dominant allele is given a capital letter and the recessive allele is given
the lower case version of the same letter
• We cannot always determine the genotype of an individual just by
looking at the phenotype
• A phenotype associated with a dominant allele will be seen in both a dominant
homozygous and a 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 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 breeds with any other individual and can
therefore produce offspring with a different genotype and phenotype
than the parents
• heterozygous individuals are not pure breeding
 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
 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
• The parents are homozygous, so:
• tall = TT
• short = tt

AAll offspring are Tt

The probability that they are tall = 100 %
Show the possible
allele combinations of
the offspring produced
when two of the
offspring from the first
cross are bred
together. Determine
the probability that
any offspring will be
short
• Offspring genotypes
= TT, Tt, Tt, tt
• Offspring phenotypes
= 3 x tall, 1 x short
• The probability that
they are tall = 25 %
Show the results of
crossing a
heterozygous plant
with a short plant.
Determine the
probability of the
offspring being short.
• Offspring genotypes = Tt, Tt, tt, tt
• Offspring phenotypes = 2 x tall, 2
x short
• The probability that they are tall
= 50 %
 Constructing Punnett squares
• You may be asked to determine the ratio of different allele combinations
in the offspring, calculate a percentage chances of offspring showing a
specific characteristic or just determine the phenotypes of the offspring;
this can be done using a Punnett square as follows:
• Determine the letter that will be used to notate each allele
• Some exam Qs will provide this information
• If not then you should select a relevant letter, e.g. E and e for eye colour
• Determine the parental genotypes
• Determine the gametes produced by each parent and add them to the Punnett
square headings
• Fill in the middle four squares of the Punnett square to work out the possible
genetic combinations in the offspring
• Indicate clearly on your Punnett square which individual will show each
phenotype, e.g. with labels or colour coding
Pedigree diagrams
• 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
• 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
Inherited medical conditions:
Sickle Cell Anaemia
A serious condition in which red blood cells can
become sickle-shaped
Normal red blood cells are smooth and round. They
move easily through blood vessels to carry oxygen to
all parts of the body.
Sickle-shaped cells don’t move easily through blood.
They’re stiff and sticky and tend to form clumps and
get stuck in blood vessels.
The clumps of sickle cell block blood flow in the
blood vessels that lead to the limbs and organs.
Blocked blood vessel can cause pain, serious
infection, and organ damage.
Normal and Sickle RBCs in blood
vessels
• People who have sickle cell anemia are born with it; means inherited,
lifelong condition.
• They inherit two copies of sickle cell gene, one from each parent.
• Sickle cell trait is different from sickle cell anemia. People with sickle
cell trait don’t have the condition, but they have one of the genes that
cause the condition.
• People with sickle cell anemia and sickle cell trait can pass the gene
on when they have children.
Inheritance of Sickle Cell Anaemia
• If one parent has sickle cell anaemia
(HbSS) and the other is completely
unaffected (HbAA) then all the children
will have sickle cell trait.
• None will have sickle cell anemia.
• The parent who has sickle cell anemia
(HbSS) can only pass the sickle hemoglobin
gene to each of their children.
• If both parents have sickle cell trait (HbAS) there is a one in four (25%)
chance that any given child could be born with sickle cell anemia.
• There is also a one in four chance that any given child could be
completely unaffected.
• There is a one in two (50%) chance that any given child will get the
sickle cell trait.
 Inherited medical conditions:
Albinism
• Albinism is caused by a recessive allele.
• Heterozygous individuals are not
affected by the condition, but they are
carriers of the mutant, recessive allele.
• People with albinism do not produce
the pigment melanin.
• They usually have pale skin, light hair
and pink eyes.
• They are very sensitive to bright light
and the skin burns easily in sunlight.
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:
• 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
• 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
• In the cross below, 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