VARIATION IN HUMANS — Expanded & Simplified Notes
1. What is variation?
Variation = differences between individuals of the same species. These differences may be in appearance,
behaviour or in the way the body works.
Examples: height, eye colour, blood group, skin tone, lactose tolerance.
2. Types of variation
Genetic variation: differences caused by genes (inherited). Example: blood group.
Environmental variation: differences caused by environment or lifestyle. Example: suntan, accent, skills learned.
Combined: traits influenced by both genes and environment. Example: height (genes set potential; nutrition
affects final height).
3. Continuous and Discontinuous variation
Continuous variation: Traits that show a range of values with small differences between individuals. They form a
smooth scale (a bell-shaped curve if you plot many individuals).
Examples: height, weight, skin tone, shoe size. These are influenced by many genes + environment.
Remember: 'C' in Continuous = 'Curve' (many values).
Discontinuous variation: Traits that fall into distinct categories with no intermediate forms.
Examples: blood groups (A, B, AB, O), ability to roll tongue (yes/no). Usually controlled by a single gene with
clear-cut alleles.
Remember: 'D' in Discontinuous = 'Distinct groups'.
4. Main sources (causes) of variation
Mutation — a change in DNA sequence. Mutations create new alleles and so introduce new variation.
Types of mutation (simple): point mutation (one base changes), insertion/deletion, and larger chromosomal
changes (e.g., extra or missing chromosomes). Example: albinism from a gene mutation.
Meiosis — special cell division producing gametes (sperm/egg). Meiosis causes
variation by:
• Crossing over (homologous chromosomes swap pieces) → new combinations of alleles.
• Independent assortment (random distribution of maternal and paternal chromosomes) → many possible
chromosome combinations.
Random fertilisation — any sperm can fertilise any egg, producing many possible offspring genotypes.
Random mating — mates pair by chance, which keeps gene combinations mixed in the population.
5. Why DNA replication is not listed as a source of variation (but mutation
is)
• DNA replication is the process of copying DNA before cell division. Normally it produces exact copies so it does
NOT create variation.
• However, if an error happens during replication, that error is a mutation. So the error, not the normal replication
process, causes variation.
Short version: replication = copying; mutation = copying mistake. Only the mistake adds new variation.
6. Other useful ideas & extra information
Phenotype vs Genotype: Genotype is the genes an organism carries; phenotype is the traits we can see (how
genes are expressed with the environment).
Heritability (simple): The proportion of variation in a trait due to genetic differences. High heritability means
genes explain most of the differences (e.g., blood group). Low heritability means environment plays a big role
(e.g., weight).
Bottlenecks and Founder effects: When a population becomes small, its gene pool shrinks and variation is lost
— this can make the population less adaptable.
7. Memorable examples & mnemonics
• Sources of variation mnemonic: MMRR — Mutation, Meiosis, Random fertilisation, Random mating.
• Continuous vs Discontinuous: think Curve vs Categories — height (curve), blood group (categories).
• Replication vs Mutation: Copy vs Copy error — replication copies; mutation is the error that creates change.
8. More practical examples & quick practice
1) Why is skin tone influenced by both genes and environment? — Genes determine pigment production; sun
exposure increases melanin production (darker tan).
2) Is the ability to roll your tongue continuous or discontinuous? — Discontinuous (yes/no).
3) Why does a large gene pool help a population? — More alleles = more traits to help survive new challenges
(disease, climate).
9. Quick summary
• Variation = differences within a species. • Types: Genetic, Environmental, Combined. • Continuous = many
values (height); Discontinuous = distinct categories (blood groups). • Sources: Mutation (changes in DNA),
Meiosis (crossing over & independent assortment), Random fertilisation, Random mating. • Replication by itself
does NOT cause variation unless it makes a mistake (mutation). • Alleles = different forms of a gene. Gene pool =
all alleles in a population.
Study tip
Make a one-page flashcard with: definition, MMRR mnemonic, continuous vs discontinuous example, and
replication vs mutation short note. Use the flashcard to test yourself.