CHAPTER 17 INHERITANCE

17.1.1 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
 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
 A diploid organism (e.g. a human) has two alleles for each gene in their
chromosomes.
 Alleles are alternative forms of a gene, so an organism could have two of the
same allele (homozygous) or two different alleles (heterozygous) at a particular
locus.
 The alleles an organism has (the genotype) will determine what characteristics it
has (the phenotype).
 Dominant and recessive alleles
 Alleles can either be dominant or recessive.
 Some can show codominance.
 If an allele is dominant, only one copy is needed for the characteristic to be
expressed in the phenotype.
 If an allele is recessive, two copies are needed for the characteristic to be
expressed in the phenotype.
 Therefore if an organism is heterozygous (has one dominant and one recessive
allele), the dominant characteristic will be expressed in the phenotype but the
recessive allele is part of the organism’s genotype and it can be passed on to
offspring.
 The organism is said to be a carrier of the recessive allele.
 Don’t forget that gametes are formed in meiosis and only contain one allele.
Genes are short lengths of DNA that code for a protein. They are found on
chromosomes

 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

Examiner Tips and Tricks

The Zoom model is always useful when trying to viualise where
you are in a cell, and what molecules are doing what. Imagine a
zoom lens that has the power to zoom right out to look at a whole
organism, but also to zoom right into individual molecules. This
helps in recognising the structures in cell nuclei visible as
chromosomes, then zooming in to picture the individual genes and
then, the bases that make up the DNA

17.1.2 The Inheritance of Gender

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
o He produces (ejaculates) around 250 million sperm cells during sexual
intercourse
o 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
 o 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.

Sperm cells determine the sex of offspring

 The inheritance of sex can be shown using a genetic diagram (known as

a Punnett square), with the X and Y chromosomes taking the place of the alleles
usually written in the boxes
 Punnett square showing the inheritance of sex

 A Punnett square represents a monohybrid cross in a grid format. This allows you to
predict genotype and phenotype ratios.

To use a Punnett square:

1. State the phenotypes of the two parents.
2. Assign the genotypes of the parents (e.g. GG for homozygous dominant, Gg for
heterozygous, gg for homozygous recessive).
3. State the gametes of the parents (e.g. G or g).
4. Use a Punnett square to show all offspring genotypes that could be produced from
random fertilisation of parental gametes.
5. State the proportion of each genotype among the offspring as a ratio or
percentage.
6. State the proportion of each phenotype among the offspring.
Worked example - Identifying offspring phenotypes using a Punnett
square

Short wings are produced in flies that are homozygous for the recessive allele ‘n’. The
dominant allele ‘N’ produces wings that are a normal length.

Work out the percentages of different phenotypes in the offspring produced from a cross
between two flies that are heterozygous for the wing length trait.

Step 1: Work out the parents’ genotypes and gametes

parents’ genotypes: Nn
parents’ gametes: N and n

Step 2: Input this into a Punnett square and fill in the squares for the offspring
genotypes

Step 3: State the percentage of different offspring phenotypes

3 out of 4 of the offspring have the dominant allele so have normal length wings
percentage of offspring with normal wings = 43×100 = 75%

1 out of 4 of the offspring is homozygous recessive, so has short wings

percentage of offspring with short wings = 41×100 = 25%

Note: you may also be asked to present these values as a ratio, e.g. 3:1
What is a test cross?
A test cross involves breeding an organism that has a dominant phenotype but an
unknown genotype with an organism that is homozygous recessive. This allows us to
determine the first parent's unknown genotype.

There are two potential outcomes of monohybrid test crosses:

1. All the offspring have the same dominant phenotype, so are

heterozygous (e.g. Tt)
 In this case, the unknown parent’s genotype must be homozygous dominant (TT).
 We know this because the offspring all inherited a recessive allele from the known
parent.
 This means they must all have inherited a dominant allele from the unknown
parent to all have the dominant phenotype.
 1. Half of the offspring are heterozygous and half are homozygous recessive
(e.g. Tt and tt)
 In this case, the unknown parent’s genotype must be heterozygous (Tt).
 We know this because the offspring all inherited a recessive allele from the known
parent.
 This means half the offspring inherited a dominant allele and half received a
recessive allele from the unknown parent.

To make a test cross as accurate as possible at identifying an unknown genotype, it

needs to be carried out many, many times.
Worked example - Identifying parental genotypes from a test cross
A short pea plant (tt) is bred with a pea plant of an unknown genotype to produce 50%
short pea plants and 50% tall pea plants.

Identify the unknown genotype of the parent.

Step 1: Identify possible genotypes of offspring
short offspring genotypes - must be tt
tall offspring genotypes - either Tt or TT

Step 2: Eliminate offspring genotypes based on known parent’s genotype

tall offspring genotypes - cannot be TT, as they inherited one recessive allele from the
known parent, so must be Tt

Step 3: Identify the unknown parent’s genotype

given the offspring genotypes of tt and Tt, and the known parent’s genotype of tt, the
unknown parent’s genotype must be heterozygous, Tt.

Monohybrid crosses in genetic inheritance diagrams

Humans are diploid organisms and almost always have two copies of each gene. This
means they have two alleles for every characteristic. Gametes (sex cells) are haploid,
which means that they have one allele per gene.

Monohybrid (monogenic) inheritance involves the transmission of one gene from

parents to their offspring.

A monohybrid cross tracks the inheritance pattern of the alleles for a single
characteristic, controlled by one gene with two possible alleles.

Genetic diagrams
Genetic diagrams illustrate how parents can pass on alleles to their offspring. They can
be used to predict possible genotypes and phenotypes in the next generation.
The F1 generation:
 This is the offspring from a cross between individuals with homozygous dominant
and homozygous recessive genotypes.
 All the offspring will be heterozygous, inheriting a recessive allele from one parent
and a dominant allele from the other.
 The offspring in the F1 generation will therefore all express the dominant trait in
their phenotype, as shown above.

The F2 generation:
 This is the offspring from a cross between two heterozygous F 1 individuals.
 It results in offspring exhibiting a 3:1 ratio of dominant to recessive phenotypes, as
shown above.

17.1.3 Genes & Proteins

DNA Base Sequence To Amino Acid Sequence: Extended
 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
o Transcription (rewriting the base code of DNA into bases of RNA)
o 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

17.1.4 Protein Synthesis

Transcription & Translation: Extended
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

The triplet code of DNA (carried by mRNA) is read by the ribosome and amino acids
are attached together in a specific sequence to form the protein

17.1.5 Which Proteins are Synthesised?

Control of Gene Expression: Extended
 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
o They are 'switched off'
o 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 neurotransmitters

 Although all body cells in an organism contain the same genes, many genes in a
particular cell are note xpressed because the cell only makes the specific
proteins it needs

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
 not expressed because the cell only makes the specific proteins it needs

17.1.6 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.
 It consists of 4 phases:
1. Prophase
2. Metaphase
3. Anaphase
4. Telophase.
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
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
 The process of cell division by mitosis

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
o A zygote divides several times by mitosis to become a ball of unspecialised cells
(around 200-300 cells). These are embryonic stem cells
o These cells are all the same and start differentiating as the fetus develops with
recognisable features

17.1.7 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
 Only happens in the reproductive organs of organisms which reproduce by sexual
reproduction.
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:
The process of cell division by meiosis to produce haploid gamete cells
17.1.8 Monohybrid Inheritance
Inheritance: definitions
 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
o 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
o 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
o A dominant allele only needs to be inherited from one parent in order for
the characteristic to show up in the phenotype
o 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:
o homozygous dominant: having two copies of the dominant allele, or
o 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
o 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

o 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

o 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

o heterozygous individuals are not pure breeding

Codominance
 If two alleles show codominance, it means that neither allele is recessive and that
they are both expressed in the phenotype if the organism is heterozygous.
 A classic example of codominance is the inheritance of sickle-cell anaemia.
 Sickle-cell anaemia is an inherited condition which affects the haemoglobin protein.
The sickle haemoglobin protein means that an affected person’s red blood cells are
sickle-shaped instead of the usual biconcave-disc shape. The means that the oxygen-
carrying capacity of red blood cells is decreased and they do not flow through blood
vessels as easily.
 The allele for normal haemoglobin (HN) and the allele for sickle haemoglobin (HS) are
codominant.
 For someone to have full sickle-cell anaemia they must have two H S alleles.
 If a person is heterozygous, they will have the sickle-cell trait: they will produce
some sickle haemoglobin, but the allele for normal haemoglobin is also expressed so
they will generally stay healthy. They also have the ability to pass on the H S allele to
their offspring, as shown below. In this specific case, the phenotypic ratio of the
F1 generation is 1:2:1.

Another example of codominance could be flower colour. If there were codominant red
flower and white flower alleles, the possible phenotypes would be red, pink
(heterozygous), and white.

Multiple alleles
 So far, we have only talked about genes where there are two possible alleles.
Sometimes, there are more than two possible alleles, and therefore more
possible genotypes and phenotypes.
 A good example of this is blood group in humans. There are three alleles for blood
group: IO (blood group O), IA (blood group A), and IB (blood group B). And just to
 complicate things, IA and IB are codominant, meaning that there is a fourth possible
blood group (blood group AB).
 IO is the recessive allele.
 In the example below, a parent with blood group AB and a parent with blood group O
have a 50% chance of having a child with blood group A and a 50% chance of having a
child with blood group B. The phenotypic ratio is 1:1.
 Codominant alleles are both expressed in the phenotype if the organism is
heterozygous.
 If there are more than two possible alleles for a gene, there are more possible
phenotypes. A good example of this is human blood group.

Monohybrid inheritance
 Monohybrid inheritance is the inheritance of a characteristic controlled by
a single gene.
 You can easily work out the possible outcomes of a monohybrid cross by drawing
a genetic diagram or Punnett square. A Punnett square diagram shows the
possible combinations of alleles that could be produced in the offspring.
 From these, you can work out the probability of offspring having a particular
genotype or phenotype. From this the ratio of these combinations can be worked
out.
 In the example below, two beetles are crossed.
o The gene we are looking at is the gene for wing colour.
o The allele for blue wings (B) is dominant, and the allele for white wings (b) is
recessive.
o If two heterozygous parents are crossed, there is a 75% chance that the
offspring will have blue wings and 25% chance they will have white wings.
o The phenotypic ratio is 3:1.

Punnett
Square
 Normal
Genetic
Diagram

Worked Example 1
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 homozygous
short plant is bred with a homozygous tall plant. Determine the probability that any
offspring will be tall
Step 1: construct a Punnett square
 The parents are homozygous, so:
o tall = TT
o short = tt
 The Punnet square should indicate:
o parent gametes
o offspring genotypes
o an indication of which offspring are tall
Step 2: determine the probability of tall offspring
 All 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.
Step 1: construct a Punnett square
 The offspring from the first cross are all Tt
 The Punnet square should indicate:
o parent gametes
o offspring genotypes
o an indication of which offspring are short
Step 2: determine the probability of short offspring
 Offspring genotypes = TT, Tt, Tt, tt
 Offspring phenotypes = 3 x tall, 1 x short
 The probability that they are tall = 25 %
Worked Example 2
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 results of crossing a heterozygous plant with a short plant. Determine the
probability of the offspring being short.
Step 1: construct a Punnett square
 The heterozygous parent has the genotype Tt
 The short parent has the genotype tt
 The Punnet square should indicate:
o parent gametes
o offspring genotypes
o an indication of which offspring are short
Step 2: determine the probability of short offspring
  Offspring genotypes = Tt, Tt, tt, tt
 Offspring phenotypes = 2 x tall, 2 x short
 The probability that they are tall = 5O %

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:
1. Determine the letter that will be used to notate each allele
o Some exam Qs will provide this information
o If not then you should select a relevant letter, e.g. E and e for eye
colour
2. Determine the parental genotypes
3. Determine the gametes produced by each parent and add them to the
Punnett square headings
4. Fill in the middle four squares of the Punnett square to work out the possible
genetic combinations in the offspring
5. Indicate clearly on your Punnett square which individual will show each
phenotype, e.g. with labels or colour coding
Examiner Tips and Tricks
If you are asked to use your own letters to represent the alleles in
a Punnett square, try to choose a letter that is obviously different
as a capital than the lower case so the examiner is not left in any
doubt as to which is dominant and which is recessive.
For example, C and c are not very different from each other when
written by hand, whereas A and a are!

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.

A family pedigree chart

 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:
o both males and females are affected
o every generation has affected individuals
o That there is one family group that has no affected parents or children
o the other two families have one affected parent and affected children as well

Identifying an unknown genotype: extended

 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

Worked 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
A plant breeder has a tall plant of unknown genotype. Show how they can find out
whether it is homozygous dominant or heterozygous.
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
Step 1: construct Punnett squares
 The short plant is showing the recessive phenotype and so must be homozygous
recessive tt
 The tall parent could be either TT or Tt, so we will need to produce two Punnett
squares to show the different outcomes
 The Punnet squares should indicate:
o parent gametes
o offspring genotypes
o which offspring are tall or short

Step 2: determine how the outcomes of the two crosses would differ
 Homozygous tall parent offspring = Tt = all tall
 Heterozygous tall parent offspring genotypes = Tt or tt = 50 % tall and 50 % short
 The presence of any short offspring indicate that the unknown parent has
a heterozygous genotype
 Determining genotypes from offspring

Sex Linkage
 In humans, one pair of the 23 pairs of chromosomes are the sex chromosomes.
 Females have two X chromosomes, whereas males have one X
chromosome and one Y chromosome.
 The X chromosome is longer than the Y chromosome and therefore has more genes.
 Because males only have one copy of the X chromosome, they only need one copy
of a recessive allele located on the X chromosome in order for it to be expressed in
the phenotype.
 This is why some disorders are more common in men than in women.
 The inheritance of colour blindness is a good example of this.
 The genetic cross below shows how it is possible for two parents with normal vision
to have a colour blind son, but not a colour blind daughter. X N is the dominant
normal vision allele, Xn is the recessive colour blindness allele.
 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:

Punnett square showing the inheritance of colourblindness, an X-linked condition

 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