What you will learn
- describe the structure of DNA, chromosomes, genes and alleles,
- distinguish mitosis (body cell division) from meiosis (gamete formation),
- define dominant, recessive, genotype, phenotype and homozygous/heterozygous,
- predict offspring ratios from a monohybrid Punnett square,
- explain the inheritance of sex-linked traits.
Brown eye allele is dominant over blue allele . Both parents are heterozygous (). What fraction of their children are expected to have blue eyes?
- Each parent can pass on either or with equal probability.
- Draw a 2 by 2 Punnett square: possible combinations are , , , .
- Genotype ratio: . Phenotype ratio (brown : blue) .
- Expected fraction with blue eyes: , or .
Key idea: a cross between two heterozygotes gives the classic phenotypic ratio whenever one allele is fully dominant.
1. DNA, chromosomes, genes and alleles
DNA (deoxyribonucleic acid) is a double helix held together by base pairs. Adenine pairs with thymine (A-T) and guanine pairs with cytosine (G-C). The sequence of bases is the genetic code.
- Gene: a length of DNA that codes for a particular protein or trait.
- Chromosome: a long DNA molecule wrapped around proteins. Humans have pairs (46 in total).
- Allele: one of the possible versions of a gene (e.g. for brown eyes, for blue).
- Genotype: the pair of alleles an individual carries (, or ).
- Phenotype: the observable trait produced by the genotype.
2. Mitosis vs meiosis
Mitosis produces two genetically identical daughter cells. It is used for growth, repair and asexual reproduction. Each daughter has the full chromosomes.
Meiosis produces four genetically different gametes (sperm or egg cells), each with chromosomes — half the normal number. When a sperm fertilises an egg the full set is restored in the offspring.
| Feature | Mitosis | Meiosis |
|---|---|---|
| Number of divisions | 1 | 2 |
| Daughter cells | 2 | 4 |
| Chromosomes per cell | 46 (diploid) | 23 (haploid) |
| Genetic variation | identical copies | new combinations |
| Purpose | growth, repair | sexual reproduction |
A human skin cell has chromosomes. After mitosis, how many chromosomes does each daughter cell have? After meiosis?
- Mitosis: DNA is copied, then divided equally. Each daughter cell has chromosomes.
- Meiosis: chromosomes are copied once but the cell divides twice, so each gamete has chromosomes.
At fertilisation, a sperm () joins an egg () to give a zygote with chromosomes — the full diploid set.
3. Mendelian inheritance and Punnett squares
A Punnett square is a grid that shows all possible allele combinations in the offspring. The rows give one parent’s gametes, the columns give the other’s.
In pea plants, tall () is dominant over short (). Cross a heterozygous tall plant () with a short plant (). What are the genotype and phenotype ratios of the offspring?
- parent produces gametes and (each ).
- parent produces only gametes.
- Punnett square gives offspring: .
- Genotype ratio . Phenotype ratio (tall : short) .
So about half the offspring are tall, half are short.
Cystic fibrosis is caused by a recessive allele . Two heterozygous carriers () have a child. Find the probability the child (a) has the disease and (b) is an unaffected carrier.
- Punnett square: .
- (a) Has disease genotype : probability , or .
- (b) Carrier genotype : probability , or .
Key idea: two unaffected carriers can produce an affected child because each has a one-in-two chance of passing on the faulty allele.
4. Sex-linked inheritance
Sex chromosomes are and . Females are , males are . Genes on the chromosome show sex-linked inheritance: because males have only one , a single recessive allele is enough to express the trait.
The colour-blind allele is recessive. A carrier mother () has a child with a normal-vision father (). Find the probability that a son is colour-blind.
- Mother’s gametes: or (each ).
- Father’s gametes: or (each ).
- Sons receive from father. So son genotypes are or , each with probability .
- Probability a son is colour-blind . Daughters all receive from the father and are unaffected, though half are carriers.
Key idea: X-linked recessive conditions are far more common in males because they only need one copy of the allele to express it.
Practice: Year 10
Vocabulary and structure
- Name the four bases of DNA and state which pairs with which.
- How many chromosomes are in a normal human body cell? A normal gamete?
- Define: gene, allele, genotype, phenotype.
- A pea plant has genotype . Is it homozygous or heterozygous?
- List two purposes of mitosis in the human body.
- State one key difference between mitosis and meiosis.
Punnett squares
- Cross (brown dominant, blue ). State the phenotype ratio.
- Cross . State the genotype of all offspring and their phenotype.
- Cross (tall dominant). State the expected phenotype ratio.
- In guinea pigs, black fur () is dominant over white (). What is the probability that two heterozygous parents have a white offspring?
- Two parents both have attached earlobes (recessive, genotype ). What earlobe phenotype will all their children have? Explain.
Applied inheritance
- In humans, widow’s peak hairline () is dominant over straight (). A woman with a widow’s peak whose mother had a straight hairline marries a man with a straight hairline. What is her genotype? What fraction of their children are expected to have a widow’s peak?
- Two carriers of cystic fibrosis () plan to have four children. What is the expected number of affected children? Why might the actual number differ?
- Explain why a cross between two heterozygotes produces a phenotypic ratio but a genotypic ratio.
- A colour-blind father and a non-carrier mother have children. Can any of their daughters be colour-blind? Can any of their sons? Justify with a Punnett square.
- A farmer crosses two red-flowered plants and gets red and white offspring. Deduce the genotypes of the parents and write the Punnett square.
Meiosis and variation
- Explain how meiosis, followed by random fertilisation, produces genetic variation in offspring even though the parents’ genes do not change.
- A cell with chromosomes undergoes meiosis. How many chromosomes are in each gamete? How many gametes are produced from one starting cell?
- Haemophilia is X-linked recessive. A carrier mother and an unaffected father have a son. What is the probability that the son has haemophilia? What is the probability a daughter is a carrier?
- In snapdragons, red () and white () alleles show incomplete dominance: gives pink. Cross and give the phenotype ratio.
Challenge
Harder reasoning
- A couple has three daughters already. They ask: “What is the probability our next child is a girl?” Explain why the answer is still , not . Link your answer to the independence of meiosis events.
- Huntington’s disease is autosomal dominant. A man whose father had Huntington’s has not yet developed symptoms. If his mother is unaffected (), what is the probability that he carries the allele? If he does, what is the probability each of his children inherits it?
- A dihybrid cross involves two genes at once. If pea colour (yellow dominant, green ) and shape (round dominant, wrinkled ) assort independently, predict the phenotype ratio of offspring from a cross . (Hint: .) Justify the category.
- Evolutionary biologists argue that sexual reproduction, though costly, persists because meiosis generates variation. Explain how (i) independent assortment of chromosomes and (ii) random fertilisation combine to produce a vast number of possible offspring genotypes from a single couple.