Most of this topic is a procedure, not a fact, and Cambridge awards marks for the layout itself — parental phenotypes, parental genotypes, circled gametes, the Punnett square, offspring genotypes, offspring phenotypes, ratio. A correct ratio with no working scores one mark out of four. An allele is a version of a gene, never of a chromosome. Mitosis gives genetically identical cells; meiosis gives genetically different ones. There is no such thing as a male carrier of a sex-linked recessive, and a son never gets a sex-linked allele from his father. Twelve traps, six data-led walkthroughs, six lookalike pairs, a three-part concept map, six answers that read well and score badly, and ten full practice questions — every one aimed at a place where a sensible-sounding sentence earns nothing at all.
Twelve traps that cost marks on Topic 17 challenge papers, spread across 17.1 to 17.5. Every one is an answer that sounds right and that mark schemes refuse.
Six challenge-level questions with real data, worked through in the order you should actually think about them. Try each part before revealing the next step.
Fig. W1 shows the inheritance of coat colour in a family of rabbits. Shaded symbols are brown; unshaded are black. (a) State, with a reason, whether the allele for brown is dominant or recessive. (b) Give the genotypes of I-1, II-1 and II-2. (c) Explain why the feature cannot be sex-linked recessive. [7]
I-1 and I-2 are both black. Their daughter II-1 is brown. A feature that appears in a child but in neither parent cannot be caused by a dominant allele, because a dominant allele is expressed whenever it is present — at least one parent would have had to show it. So brown is caused by a recessive allele, and both parents must have been carrying it hidden. That is the whole of part (a), and it is worth two marks: the conclusion and the reason.
Anyone who is brown must be bb — there is no other possibility. So II-1 is bb, and III-1 is bb. Now work outwards. I-1 is black, so he has at least one B; but his daughter II-1 is bb, so she received a b from him. He must therefore be Bb. The same argument makes I-2 Bb. Never start from the individuals you are unsure about; start from the ones the diagram forces.
II-2 is black. His parents are Bb × Bb, so he could be BB or Bb, and he has no children shown who could settle it. The correct answer is BB or Bb — and that is a full-credit answer, not a hedge. Compare him with II-3, who is also black but has a brown son, III-1: II-3 must have given a b to that son, so II-3 is definitely Bb. Same phenotype, different amount of information.
If the brown allele were carried on the X chromosome and recessive, a brown female would have to be XbXb, which means she received an Xb from each parent — including from her father, whose only X she must have. Her father would therefore have to be XbY and brown himself. II-1 is a brown female and her father I-1 is black. That is impossible for a sex-linked recessive, so the feature is not sex-linked.
In a species of tomato plant, hairy stems (H) are dominant to smooth stems (h). Three crosses were carried out and the offspring counted. Deduce the genotype of the hairy parent in each cross, and explain your reasoning. [6]
| Cross | Parents | Offspring counts |
|---|---|---|
| 1 | hairy × hairy | 96 hairy, 31 smooth |
| 2 | hairy × smooth | 58 hairy, 61 smooth |
| 3 | hairy × smooth | 124 hairy, 0 smooth |
Cross 1: 96 ÷ 31 is about 3.1, so this is approximately 3 : 1. Cross 2: 58 and 61 are nearly equal, so approximately 1 : 1. Cross 3: every offspring is hairy, so all dominant. Do the arithmetic first — the ratio, not the raw counts, is what identifies the parents.
A 3 : 1 ratio comes from Hh × Hh, so both parents in cross 1 are heterozygous. A 1 : 1 ratio from a hairy × smooth cross comes from Hh × hh, so the hairy parent in cross 2 is heterozygous. All-dominant offspring from a hairy × smooth cross means the hairy parent gave an H to every offspring, so it is HH.
The smooth parent must be hh, because smooth is the recessive phenotype. That means crosses 2 and 3 are test crosses: the recessive parent can only contribute h, so the offspring reveal exactly what the hairy parent contributed. Cross 2 shows that the hairy parent produced some h gametes, which proves Hh. Cross 3 shows no smooth offspring at all.
Crosses 1 and 2 prove Hh, because smooth offspring appeared, and a smooth offspring can only come from a parent carrying h. Cross 3 does not prove HH — a Hh parent could give 124 hairy offspring by chance, though the probability is vanishingly small. The honest wording is that the parent in cross 3 is almost certainly HH, and that a larger sample makes the conclusion safer.
The table shows the blood groups of a mother, a father and three children. One of the three children was adopted. (a) Give the genotypes of the mother and the father. (b) Deduce which child was adopted, explaining your reasoning fully. [6]
| Person | Blood group |
|---|---|
| mother | AB |
| father | O |
| child 1 | A |
| child 2 | B |
| child 3 | O |
Group AB can only be IAIB, because both alleles must be present for both to be expressed. Group O can only be IOIO, because IO is recessive to both of the others, so it can only show when nothing else is there. That is part (a) done, with no working needed.
The mother, IAIB, makes gametes carrying IA or IB. The father, IOIO, can only make gametes carrying IO. Every child of theirs therefore receives an IO from the father and either an IA or an IB from the mother.
The possible children are IAIO, which is group A, and IBIO, which is group B. Nothing else is available. Notice the surprise: no child of this couple can be group AB like the mother or group O like the father. Every child has a blood group that neither parent has.
Child 1 is group A — possible. Child 2 is group B — possible. Child 3 is group O, which needs two IO alleles, one from each parent. The mother has no IO to give, so she cannot be child 3’s mother. Child 3 was adopted.
Fig. W4 shows red-green colour blindness in a family. (a) Give the genotypes of I-2 and II-1, using the symbols XB and Xb. (b) II-1 and II-2 are expecting another child. State the probability that the child will be colour blind, and the probability that it will be colour blind if it is a boy. [6]
I-1 is an affected male, II-3 is an affected male, III-1 is an affected male, and no female in the diagram is affected. A strong sex bias like that is the first sign of sex linkage, and it tells you immediately to abandon Bb notation and write XB, Xb and Y instead. Choosing the notation is the first decision, and it decides everything downstream.
II-3 is colour blind, so he is XbY. His Y came from his father and his X came from his mother, so I-2 must carry an Xb. She is not colour blind herself, so she is a carrier: XBXb. Notice you did not need her father or anything else — one affected son is enough.
III-1 is colour blind, so he is XbY, and his Xb came from his mother II-1. II-1 has normal vision, so she too is a carrier: XBXb. This is what “skipping a generation” actually means — the allele has travelled through two unaffected women. II-2 has normal vision and is therefore XBY.
Cross XBXb × XBY. The four boxes are XBXB, XBXb, XBY and XbY. Exactly one of the four children is colour blind, so the probability for a child is 1 in 4. But only two of the four are boys, and one of those two is colour blind, so the probability for a boy is 1 in 2. Both are correct answers to different questions.
The table gives the number of chromosomes in the nuclei of four cells. Cells P, Q and R come from the same animal. (a) Name the type of division that produced cell Q, and explain your answer. (b) Explain how cell R came to have 38 chromosomes. (c) Explain why the count for cell S tells you nothing about the animal. [6]
| Cell | Chromosomes in the nucleus |
|---|---|
| P — from the lining of the gut | 38 |
| Q — from an ovary, after division | 19 |
| R — a fertilised egg cell | 38 |
| S — from a root tip of the same species’ food plant | 18 |
Cell P is a body cell, so 38 is the diploid number for this animal — 19 pairs. Every body cell in the animal should have 38, and any cell with 19 has had its chromosome number halved. Establishing the diploid number first turns the rest of the question into arithmetic.
Cell Q has 19, which is haploid, so the chromosome number has been halved. Only meiosis halves it. The fact that the cell came from an ovary supports this — ovaries produce gametes — but the number is the evidence and the organ is only the context. Say “the number has been halved from 38 to 19, so it is meiosis”.
Cell R is a fertilised egg cell, which is a zygote. It has 38 because fertilisation is the fusion of the nuclei of two gametes: a haploid egg nucleus with 19 fused with a haploid sperm nucleus with 19, giving 19 + 19 = 38. That is why meiosis has to halve the number in the first place — otherwise the total would double every generation.
Cell S comes from a plant, which is a different species entirely, and chromosome number is not a measure of complexity or of relatedness. 18 in a plant tells you nothing about an animal with 38. Questions plant this kind of number to see whether you will try to compare across species — the only correct comment is that the two are unrelated.
A bacterium normally makes an enzyme that breaks down a sugar. In one bacterium a single base in the gene for that enzyme is different, and the bacterium can no longer break the sugar down, although it still makes a protein of the usual length. (a) Explain, in terms of the gene and the protein, why the enzyme no longer works. (b) The bacterium still contains the gene. Explain why it still makes a protein at all. (c) Suggest one other kind of protein that a change like this could affect, and what the consequence would be. [7]
The sequence of bases in a gene determines the sequence of amino acids in the protein it codes for. Change a base and you may change one amino acid. Different sequences of amino acids give proteins different shapes, so a changed amino acid can change the shape of the finished protein. Write the chain in that order and each link is a marking point.
An enzyme works because its active site has a shape complementary to its substrate. If the shape of the protein has changed, the substrate no longer fits the active site, so no enzyme-substrate complex forms and the sugar is not broken down. The whole of part (a) is the base-to-shape chain plus this one sentence about fit.
A protein is still made because the gene is still there and the process is unaffected: mRNA is still made as a copy of the gene in the nucleus — or, in a bacterium, from its circular DNA — the mRNA still passes through a ribosome, and the ribosome still assembles amino acids into a protein. Only which amino acid goes in one position has changed, so the protein is the usual length but the wrong shape.
DNA controls cell function by controlling the production of proteins, including enzymes, membrane carriers and receptors for neurotransmitters. So a change like this could alter a membrane carrier, meaning a particular ion or molecule can no longer be moved across the membrane by active transport; or a receptor for a neurotransmitter, meaning the neurotransmitter no longer fits and the impulse is not passed on at the synapse.
Six pairs that look almost identical and have different answers. In this topic the distinction is nearly always where the marks live.
Click each node. The whole topic is three frameworks: what the genetic material is and what it does, the two kinds of cell division, and one layout that answers five kinds of cross.
Six answers of the kind that read fluently and score badly. Find the fault before you reveal it.
Ten Cambridge-style challenge questions, each drawing on more than one sub-topic. Write your answer first, then reveal the model answer and the examiner notes.