The process involving the fusion of the nuclei of two gametes to form a zygote and the production of offspring that are genetically different
What is fertilisation?
The fusion of gamete nuclei, leading to variation in offspring as each gamete comes from a different parent
What does the formation of gametes involve?
Meiosis
What happens during fertilisation?
Gametes join together to restore the normal number of chromosomes and the new cell then divides by mitosis
As the embryo develops, cells differentiate
What is asexual reproduction?

Process involving only one parent and no fusion of gametes so there is no mixing of genetic information, leading to genetically identical offspring (clones)
What process is involved in asexual reproduction?
Only mitosis
What are the advantages and disadvantages to sexual reproduction?
Advantages
Produces variation in the offspring
If the environment changes, variation gives a survival advantage by natural selection
Natural selection can be sped up by humans in selective breeding to increase food production
Disadvantages
Takes time and energy to find mates
Difficult for isolated members of the species to reproduce
What are the advantages and disadvantages to asexual reproduction?
Advantages
Only one parent needed
More time and energy efficient as do not need to find a mate
Faster than sexual reproduction
Many identical offspring can be produced when conditions are favourable
Disadvantages
Limited genetic variation in population
Population is vulnerable to changes in conditions, and is only suited for one habitat
Disease is likely to affect the whole population as there is no genetic variation
Explain how malarial parasites, fungi and plants reproduce both asexually and sexually
Malarial parasites
Reproduce asexually in human host
Sexually in mosquito
Fungi
Reproduce asexually by spores
Sexually to give variation
Plants
Many produce seeds sexually
Can reproduce asexually by runners such as strawberry plants, or bulb division such as daffodils
Why is meiosis important for sexual reproduction?
Cells in reproductive organs divide by meiosis to form gametes
It increases genetic variation
It ensure that the zygote formed at fertilisation is diploid
Explain the process of meiosis
Each chromosome is duplicated, forming X-shaped chromosomes
First division - the chromosome pairs up along the centre of the cell and are then pulled apart so that each new cell only has one copy of each chromosome
Second division - the chromosomes line up along the centre of the cell and the arms of the chromosomes are pulled apart
A total of 4 haploid daughter cells will be produced
Explain how gametes are produced

Copies of the genetic information are made
The cell divides twice to form four gametes, each with a single set of chromosomes
All gametes are genetically different from each other
Explain how the number of chromosomes change from gamete to embryo
Meiosis halves the number of chromosomes in gametes.
Gametes join at fertilisation to restore the normal number of chromosomes.
The new cell divides by mitosis - the number of cells increases
As the embryo develops, cells differentiate
Why is meiosis important?
Produces gametes
Increases genetic variation in offspring
produces variation by forming new combinations of maternal and paternal chromosomes every time a gamete is made - each offspring from fertilisation will be different from any others
It ensures that the zygote formed at fertilisation is diploid
Compare mitosis with meiosis
Mitosis
1 division
2 genetically identical daughter cells
Diploid daughter cells (23 pairs)
Body cells
Meiosis
2 divisions
4 genetically different daughter cells
Haploid daughter cells (23)
Gametes
What is a genome?
the entire set of the genetic material of an organism
What is a gene?
A small section of DNA on a chromosome
Each gene codes for a particular sequence of amino acids, to make a specific protein
What is DNA?
The molecule that contains the instructions for growth and development of all organisms
What is the structure of DNA like?
Polymer made up of two strands forming a double helix, with many repeating units (monomers) called nucleotides
Where is DNA located?
DNA is contained in structures called chromosomes which are located in the nucleus of cells
What is the Human Genome Project?

The international, collaborative research effort to determine the DNA sequence of the entire human genome and record every gene in human beings
Give 3 ways the Human Genome Project is important
Diagnosis of inherited / geneticdisorders
Understanding of evolution, ethnic origins or ancestry
Trace human migration patterns in the past
Helps understand and find treatments for inherited disorders
How does a gene code for a protein?
A sequence of 3 bases is the code for a particular amino acid
The specific order of amino acids determines the shape of the protein, and the shape of the protein determines its function
The order of amino acids in a protein is determined by the sequence of bases in the gene for that protein
Explain the transcription stage of protein synthesis
Transcription - DNA cannot travel out of the nucleus to the ribosomes so the base code for each gene is transcribed onto a complementary template (RNA) molecule - messenger RNA (mRNA)
mRNA can move out of the nucleus and into the cytoplasm
Explain the translation stage of protein synthesis
Translation - mRNA attach to ribosome and the correct sequence of amino acids are then brought to the ribosome on carrier molecules (tRNA)
The ribosome reads the triplets of bases on mRNA and uses this to join together the correct amino acids in the correct order.
Once the protein chain is complete, it folds up to form a unique shape, enabling the proteins to do their job
What happens to the protein made when a change in the DNA structure occurs?
A change in DNA structure may result in a change in the protein synthesised by a gene
If there is a change in the order of the bases in a section of DNA (gene) then a different protein may be produced
This protein may not function in the same way as the original protein would have
Explain the translation phase of protein synthesis
The ribosome 'reads' the code on the mRNA in groups of 3. Each triplet of bases codes for a specific amino acid
Carrier molecules bring specific amino acids to add to the growing protein chain in the correct order. In this way, the ribosome translates the sequence of bases into a sequence of amino acids that mae 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
Why is 'folding' of amino acids important in proteins such as enzymes?
The folding of amino acids forms a unique shape, enabling the proteins to fulfil a specific function. E.g. the shape of the active site must be highly specific to the substrate
Give 3 different types proteins
Enzymes - biological catalysts to speed up chemical reactions occuring in the body
Hormones - proteins that carry messages around the body
Structural proteins - proteins that provide structure and are physically strong
E.g. collagen is a structural protein that strengthens connective tissues such as ligaments and cartilage
What are mutations?

Random changes that occur in the sequence of DNA bases in a gene or chromosome continuously
Describe the effect of mutations on coding DNA
As the DNA base sequence determines the sequence of amino acids that make up a protein, mutations in a gene can sometimes lead to a change in the protein that the gene codes for
Most mutations do not alter the protein or only alter it slightly so that its appearance or function is not changed
Describe the 3 types of mutations
Insertions
A new base is randomly inserted into the DNA sequence
Changes the amino acid that would have been coded for by the group of 3 bases in which the mutation occurs
Insertion mutation has a knock-on effect by changing the groups of 3 bases further on in the DNA sequence
Deletions
A base is randomly deleted from the DNA sequence
Effects like insertions
Substitutions
A base in the DNA sequence is randomly swapped for a different base
Will only change the amino acid for the group of 3 bases in which mutation occurs - no knock on effect
What are non-coding parts of DNA
Parts of DNA that can switch genes on and off, controlling whether or not a gene is expressed
What happens if a mutation occurs in a section of non-coding DNA?
If a mutation occurs in a section of non-coding DNA that controls gene expression, the expression of these genes may be altered or in some cases, the mutation may cause them not to be expressed at all
Gamete - sex cells
Chromosome - thread-like structures of DNA, carrying genetic information in the form of genes
Gene - short lengths of DNA which code for specific proteins
Allele - different versions of a particular gene
Genotype - combination of alleles that control each characteristic
Phenotype - observable characteristics of an organism
What is monohybrid inheritance?

Characteristics controlled by a single gene
What is polygenic inheritance?
When most characteristics are a result of multiple genes interacting, rather than a single gene
What is polydactyly?

Genetic disorder that causes someone to be born with extra fingers or toes
Polydactyly is caused by a dominant allele
What is cystic fibrosis?
Genetic disorder of cell membranes, resulting in the body producing large amounts of thick, sticky mucus in the air passages
Over time this may damage the lungs and stop them from working properly