Chapter 17
Chapter 17
Chapter 17
Page 1 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
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
Page 2 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Exam Tip
Your notes
The Zoom model is always useful when trying to viualise where you are in a cell, and what
molecules are doing what. Imagine a z oom lens that has the power to z oom right out to look at a
whole organism, but also to z oom right into individual molecules. This helps in recognising the
structures in cell nuclei visible as chromosomes, then z ooming in to picture the individual genes
and then, the bases that make up the DNA
Page 3 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 4 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 5 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
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
Your notes
Page 6 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Exam Tip
Students often confuse sequences of bases (in DNA/RNA) with sequences of amino acids (in
proteins).
Make sure you're clear which large molecule you're referring to and therefore, which monomers
make up the larger molecule.
Page 7 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 8 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 9 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
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
Page 10 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
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
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
Page 11 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 12 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 13 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Protein synthesis
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')
Page 14 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
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
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
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
Page 15 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
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 Your notes
Exam Tip
An easy way to remember the difference between haploid and diploid is to remember:
Haploid = Half the normal number of chromosomes
It’s worth noting that the human diploid chromosome number is 46. In an exam, you may be given
information about a different species, with a different number of chromosomes. Make sure you
read exam questions carefully.
Page 16 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 17 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 18 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
The process of cell division by mitosis
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 z ygote
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 z ygote 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
Page 19 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 20 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 21 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
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
Page 22 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Exam Tip
Questions on cell division often ask for differences between mitosis and meiosis. Learn two or
three and remember to BE SPECIFIC when giving your answer.
You should also know the reasons for a specific type of cell division taking place and the types
of cells where each happen.
Page 23 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 24 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Alleles of a gene can carry the same instructions or different instructions. You can only inherit two alleles
for each gene, and they can be the same or different
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
homoz ygous and a dominant heteroz ygous 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
Page 25 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Genetic Diagrams
What is monohybrid inheritance? Your notes
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
Monohybrid Inheritance 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 homoz ygous for that characteristic
Page 26 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 27 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 28 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
There is more variation in this cross, with a 3:1 ratio of tall : short, meaning each offspring has a
75% chance of being tall and a 25% chance of being short
The F2 generation is produced when the offspring of the F1 generation (pure-breeding parents) Your notes
are allowed to interbreed
‘Show the results of crossing a heterozygous plant with a short plant’
The heteroz ygous plant will be tall with the genotype Tt
The short plant is showing the recessive phenotype and so must be homoz ygous recessive - tt
The results of this cross are as follows:
Page 29 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
In this cross, there is a 1:1 ratio of tall to short, meaning a 50% chance of the offspring being tall Your notes
and a 50% chance of the offspring being short
How to construct Punnett squares
Determine the parental genotypes
Select a letter that has a clearly different lower case, for example: Aa, Bb, Dd
Split the alleles for each parent and add them to the Punnett square around the outside
Fill in the middle four squares of the Punnett square to work out the possible genetic
combinations in the offspring
You may be asked to comment on 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
Completing a Punnett square allows you to predict the probability of different outcomes from
monohybrid crosses
Exam Tip
You should always write the dominant allele first, followed by the recessive allele.
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, whereas A and a are!
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
Page 30 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Males are indicated by the square shape and females are represented by circles
Affected individuals are red and unaffected are blue
Horiz ontal 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
Page 31 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
‘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 homoz ygous recessive - tt
Page 32 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 33 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
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’
Page 34 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 35 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Page 36 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
Head to savemyexams.com for more awesome resources
Your notes
Page 37 of 37
© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers