Genotype vs phenotype
Inheritance = transmission of genetic information from one generation to the next. Genotype = the alleles present; phenotype = the observable features. Homozygous = two identical alleles (AA or aa), so pure-breeding; heterozygous = two different alleles (Aa), not pure-breeding. Dominant = expressed whenever present, so the dominant phenotype shows in AA and Aa; recessive = expressed only when no dominant allele is present, so it shows only in aa.
Genetic diagrams follow six fixed steps
Key (upper case = dominant, lower case = recessive) -> parental phenotypes -> genotypes, two alleles each -> gametes, one allele each, circled -> 2x2 Punnett grid -> offspring genotypes -> phenotype ratio. Group the boxes by phenotype: every box holding at least one dominant allele shows the dominant phenotype. Tt x Tt gives genotypes TT : Tt : tt = 1 : 2 : 1, a 3:1 phenotype ratio; a test cross Tt x tt gives 1:1. 0654 limits ratios to 1:1 and 3:1.
Pedigree diagrams and probability
A pedigree diagram shows how a characteristic passes through several generations. If two individuals showing the normal phenotype have an affected child, the characteristic must be recessive and both parents are heterozygous carriers — they do not show it but can pass the recessive allele on. Anchor each deduction on an affected individual: a recessive characteristic means aa. All four Punnett boxes are equally likely, so one matching box = one quarter = 25%.
Drawn from real examiner reports.
"aa" is homozygous recessive — both words
To describe the genotype in words, both words are required. "Homozygous" alone says there are two identical alleles but not which one; "recessive" alone says which allele but not that there are two copies. Mark schemes award the description only for the full term homozygous recessive — and this is the one genotype that shows the recessive phenotype.
Flagged Nov 2023 P41 Q1aii
A genotype needs both alleles
A genotype is the pair of alleles in a body cell, so it is always written with two letters: , or . A single letter such as T or t is a gamete or an allele, not a genotype. Candidates lose the mark by answering with one letter, so read the command: "give the genotype" wants two letters, "give the gamete" wants one.
Flagged Jun 2022 P41 Q4aii
Use A/a — never P/Q or X/Y
Label the gene with a single letter: upper case for the dominant allele and the same letter in lower case for the recessive one (/, /). Invented symbols such as P and Q, or X and Y — which mean the sex chromosomes — are not credited. Choose a letter whose upper- and lower-case shapes differ, or the examiner cannot tell them apart.
Flagged Nov 2023 P41 Q1aiii
One allele per gamete circle
Gametes are haploid, so each gamete circle holds a single allele. A heterozygous parent makes two kinds of gamete, A and a, in separate circles — writing Aa or aA inside one gamete is wrong, and so is copying the whole genotype AA. Wrong gametes make the Punnett grid impossible to complete, so the offspring and ratio marks are forfeited too.
Flagged Nov 2023 P41 Q1aiii
0% and 100% get swapped
If one parent is homozygous dominant (), every gamete it makes carries A, so every offspring shows the dominant phenotype: 0% recessive, 100% dominant. Candidates report these the wrong way round, or default to 25%/50% out of habit. Count the boxes matching the target phenotype and convert — 0 of 4 = 0%, 1 = 25%, 2 = 50%, 3 = 75%, 4 = 100%.
Flagged Jun 2022 P41 Q4aiii
An AA parent cannot give aa offspring
A recessive phenotype needs one recessive allele from each parent, so a homozygous dominant parent can never produce homozygous recessive offspring, whatever the other parent is. Candidates asked whether a parent could be heterozygous often miss this. For recessive offspring to appear at all, both parents must carry a recessive allele — each is or .
Flagged Jun 2022 Q11 (MCQ)
A gene is not an allele
A gene is a length of DNA that codes for a protein; an allele is one alternative form (version) of that gene. The gene for flower colour has a purple allele and a white allele. Examiners report both terms being defined poorly or used interchangeably, so always define the gene first, then the allele as a version of it — never the other way round.
Flagged Jun 2022 P31 Q4d · Nov 2023 P32 Q4ci
Use the same six-step scaffold every time
Key -> parent phenotypes -> parent genotypes -> gametes -> 2x2 grid -> offspring genotypes -> phenotype ratio. Writing every stage out in the same order means each one earns its own mark even if the final ratio comes out wrong, and it stops you skipping the gametes line.
Match the command word
"Complete the genetic diagram" — fill every box and every gamete circle; leave nothing blank. "State the probability / percentage" — count matching boxes out of 4 and convert; do not just give the ratio. "Give the genotype" — two alleles. "Give the gamete" — one allele.
Start a pedigree at the affected individual
Anyone showing a recessive characteristic must be , so begin there and work outwards. An unaffected parent of an affected child must be a heterozygous carrier, . Never assume an unaffected relative cannot carry the recessive allele.
3:1 or 1:1 — check the parents first
A 3:1 phenotype ratio only comes from crossing two heterozygotes; 1:1 is the signature of a test cross, heterozygote with homozygous recessive. Read the ratio off your own completed grid rather than reaching for the familiar 3:1.
Cambridge 0654 spec reference: Section B16 "Inheritance", sub-topic B16.3 (Core content). This leaf covers definitions of inheritance/genotype/phenotype, homozygous vs heterozygous and pure-breeding, dominant vs recessive alleles, interpreting pedigree diagrams, and using genetic diagrams (Punnett squares) to predict monohybrid cross results and phenotype ratios (1:1 and 3:1).
Out of scope for B16.3 (do not use): codominance, sex linkage, multiple alleles, ABO blood groups.
| Term | Mark-scheme-precise definition |
|---|---|
| Inheritance | The transmission of genetic information from one generation to the next (parents to offspring) |
| Gene | A length of DNA (deoxyribonucleic acid) that codes for a characteristic / a unit of inheritance |
| Allele | A version (alternative form) of a gene |
| Genotype | The genetic make-up of an organism in terms of the alleles present (e.g. ) |
| Phenotype | The observable features (characteristics) of an organism |
| Homozygous | Having two identical alleles of a gene ( or ); pure-breeding |
| Heterozygous | Having two different alleles of a gene (); not pure-breeding |
| Pure-breeding | Homozygous — crossing with an identical genotype gives offspring all of the same phenotype |
| Dominant allele | An allele that is expressed if it is present (only one copy needed to show) |
| Recessive allele | An allele that is only expressed when there is no dominant allele of the gene present (only shows when homozygous, ) |
The one idea that unlocks the topic: the dominant phenotype appears in and , but the recessive phenotype appears only in .
Define homozygous and heterozygous. Which one is pure-breeding?
Define each of the following terms as used in genetics:
(a) genotype
(b) phenotype
(c) heterozygous
(3 marks)