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🌿 Genetic Inheritance

Spec 4.6.3 📙 Higher
📖 In-Depth Theory

Alleles — Dominant and Recessive

Each individual has TWO copies of most genes — one on each chromosome of a homologous pair. These copies may be the same allele or different alleles.
DOMINANT allele:
Expressed in the phenotype (physical characteristic) even if ONLY ONE COPY is present.
Written as a CAPITAL letter (e.g. B for brown eyes).
RECESSIVE allele:
Only expressed if TWO COPIES are present — hidden by dominant allele if only one copy exists.
Written as a LOWERCASE letter (e.g. b for blue eyes).
GENOTYPE — the alleles an organism has (e.g. BB, Bb, bb).
PHENOTYPE — the observable characteristic expressed (e.g. brown eyes, blue eyes).
HOMOZYGOUS — both alleles are the same (BB or bb).
HETEROZYGOUS — alleles are different (Bb).
CARRIER — an individual with one recessive allele that is not expressed (Bb). They appear normal but can pass the recessive allele to offspring.

Using Punnett Squares

A PUNNETT SQUARE is a grid used to predict the probability of offspring genotypes and phenotypes from a genetic cross.
How to draw one:
1. Write the alleles of one parent across the top.
2. Write the alleles of the other parent down the side.
3. Fill in each box by combining the alleles from the row and column.
4. The boxes show all possible offspring genotypes.
EXAMPLE — Heterozygous cross (Bb × Bb):
Parents: Bb × Bb
Offspring genotypes: BB, Bb, Bb, bb
Ratio: 1 BB : 2 Bb : 1 bb
Phenotype ratio: 3 dominant (BB and Bb) : 1 recessive (bb)
So 75% show dominant phenotype, 25% show recessive phenotype.
EXAMPLE — Carrier × Normal (Bb × BB):
Offspring: BB, BB, Bb, Bb
All offspring show dominant phenotype — but 50% are carriers (Bb).

Probability in Genetics

Punnett squares give us PROBABILITIES — the likelihood of each outcome, not a guarantee.
If a cross gives a 1 in 4 (25%) chance of an affected offspring, this means:
Each pregnancy independently has a 25% chance.
It does NOT mean that exactly 1 in every 4 children will be affected.
Small sample sizes may not reflect the expected ratio.
Probability can be expressed as:
A fraction: 1/4.
A percentage: 25%.
A ratio: 1 in 4.
Genetic counsellors use Punnett squares to advise couples on the risk of inherited conditions in their children.
⚠️ Common Mistake

A CARRIER (Bb) has the recessive allele but does NOT show the condition — they appear completely normal. Students often say carriers 'have the disease mildly' — this is WRONG. A carrier is phenotypically normal but genotypically heterozygous. Two carriers (Bb × Bb) have a 25% chance of an affected (bb) child.

📌 Key Note

Dominant (capital) = expressed with one copy. Recessive (lowercase) = needs two copies. Genotype = alleles present. Phenotype = observable trait. Homozygous = both same. Heterozygous = different. Carrier = Bb, appears normal.

🎯 Matching Activity — Genetics Vocabulary

Match each genetics term to its correct definition. — drag the symbols on the right to match the component names on the left.

Genotype
Drop here
Phenotype
Drop here
Homozygous
Drop here
Heterozygous
Drop here
Dominant allele
Drop here
Carrier
Drop here
Both alleles are the same — e.g. BB or bb
The observable characteristic — e.g. brown eyes
The alleles present in an organism — e.g. Bb
Alleles are different — e.g. Bb
Expressed in the phenotype even if only one copy is present
Heterozygous individual with one recessive allele — appears normal but can pass it on
⚽ FIFA Worked Examples
Punnett Square — Heterozygous Cross

Two parents are both heterozygous for brown eyes (Bb). Brown (B) is dominant over blue (b). Calculate the probability of a child having blue eyes.

F

Draw a Punnett square: Bb × Bb

I

Offspring: BB, Bb, Bb, bb → genotype ratio 1:2:1

F

Only bb gives blue eyes (recessive phenotype) = 1 out of 4

A

Probability of blue eyes = 1/4 = 25%

⭐ Higher Tier Only

Codominance: both alleles expressed in the phenotype. Example: blood groups — IA and IB are codominant; IO is recessive. Blood group AB genotype = IAIB (both A and B antigens expressed). Students should be able to construct Punnett squares for crosses involving codominant alleles and predict the phenotype ratios for codominant inheritance.

🎯 Test Yourself
Question 1 of 3
1. In a Bb × Bb cross, what fraction of offspring will show the RECESSIVE phenotype?
2. A person is described as a 'carrier' of cystic fibrosis. What does this mean?
3. If a Punnett square shows a 1 in 4 chance of having an affected child, what does this mean for a couple?
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