Inheritance, variation & selection
Chromosomes, genes and alleles, how mitosis and meiosis differ, how to work out monohybrid crosses with Punnett squares and pedigrees, why organisms vary, and how natural and artificial selection change populations.
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In 30 seconds
- DNA is the genetic code. A gene is a length of DNA that codes for a protein, and alleles are different versions of a gene. Humans have 46 chromosomes (23 pairs) in every body cell.
- Mitosis makes identical cells for growth and repair. Meiosis makes gametes with half the chromosomes, all genetically different. Punnett squares predict the ratios, for example 3 : 1 and 1 : 1.
- Offspring vary because of genes and the environment. Mutation makes new alleles. Natural selection (the environment) and selective breeding (humans) change which alleles are common.
By the end you can
- Define chromosome, gene and allele, and describe how sex is inherited in humans.
- Define haploid and diploid nuclei and state the chromosome number in human cells.
- Describe mitosis and meiosis and compare them, including why each is needed.
- Use the terms genotype, phenotype, homozygous, heterozygous, dominant, recessive and pure-breeding.
- Predict the results of monohybrid crosses (3 : 1 and 1 : 1) with Punnett squares, and interpret a pedigree.
- Compare continuous and discontinuous variation and say what causes variation.
- Define mutation and name factors that increase it.
- Describe adaptive features, natural selection and selective breeding.
- Explain how a gene codes for a protein, and how DNA controls cell function. EXT
- Describe stem cells. EXT
- Predict test cross, codominance (ABO) and sex-linked inheritance results. EXT
- Explain gene mutation, sources of variation and antibiotic resistance as natural selection. EXT
- Describe the adaptations of xerophytes and hydrophytes. EXT
1DNA, genes and chromosomes
Chromosomes, genes and alleles
Chromosome — a thread-like structure of DNA, carrying genetic information in the form of genes.
Gene — a length of DNA that codes for a protein.
Allele — a version of a gene.
- Chromosomes are found in the nucleus (cells). Human body cells have 46 chromosomes in 23 pairs. One chromosome of each pair came from the mother and one from the father.
- Because the two chromosomes of a pair carry the same genes in the same places, a person has two alleles of each gene. They may be the same or different.
Haploid and diploid nuclei
Haploid nucleus — a nucleus containing a single set of unpaired chromosomes (for example in a gamete).
Diploid nucleus — a nucleus containing two sets of chromosomes (for example in a body cell).
- Humans: body cells are diploid (46), gametes are haploid (23). Fertilisation restores the diploid number.
How a gene makes a proteinEXTENDED
- EXT The code: DNA has four bases (A, T, C, G). Every three bases in a gene code for one amino acid. The sequence of bases therefore decides the sequence of amino acids in the protein (proteins and enzymes).
- EXT Protein shape = job. The chain of amino acids folds into a particular 3D shape. A different amino acid sequence gives a different shape, so a different job (an enzyme, a hormone or haemoglobin).
- EXT Protein synthesis in 4 steps: (1) the gene in the nucleus is copied into mRNA, (2) the mRNA leaves the nucleus, (3) a ribosome in the cytoplasm reads the mRNA and joins amino acids in the right order, (4) the chain folds into the protein.
- EXT DNA controls the cell by controlling which proteins are made. Different cells use different genes (for example, only some pancreas cells make insulin), so cells become specialised.
- EXT The diagram shows the base pairing: DNA T → A, A → U, C → G, G → C in the mRNA. You do not need to learn which codon gives which amino acid.
How sex is inherited
- Humans have 23 pairs of chromosomes. 22 pairs are the same in both sexes. The 23rd pair are the sex chromosomes: XX in females and XY in males.
- Females make eggs that all carry X. Males make half X sperm and half Y sperm. So the sperm decides the sex of the baby, and each baby has a 50% chance of being a girl or a boy.
A couple already has four daughters. What is the probability that their fifth child is a boy?
- each fertilisation is an independent event
- the sperm that fertilises the egg is X or Y with equal chance
- probability of a boy = 1/2 = 50%
- the four daughters make no difference
2Cell division
Mitosis
Mitosis — nuclear division giving rise to genetically identical cells.
- Before the cell divides, the chromosomes are copied (replicated). Then the copies are separated into two nuclei.
- Each daughter cell has the same number of chromosomes and the same genes as the parent cell. In a human, 46 → 46.
- Uses of mitosis: growth (more cells), repair of damaged tissue, replacement of worn-out cells, and asexual reproduction (asexual reproduction).
- EXT Stem cells are unspecialised cells that divide by mitosis and can become specialised (differentiate). For example, stem cells in bone marrow make new blood cells.
Meiosis
Meiosis — nuclear division giving rise to genetically different cells, with half the number of chromosomes (a reduction division).
- Meiosis happens in the reproductive organs (testes and ovaries, anthers and ovules) to make gametes (gametes).
- One diploid cell makes four haploid cells. In a human, 46 → 23. Each gamete gets one chromosome from each pair, in a random mixture, so the gametes are genetically different.
- Fertilisation then joins two haploid gametes to make a diploid zygote, so the chromosome number stays the same from one generation to the next.
| Mitosis | Meiosis | |
|---|---|---|
| where | most body cells | reproductive organs only |
| cells made | 2 | 4 |
| chromosome number | stays the same (46 → 46) | halved (46 → 23) |
| the cells are | identical to the parent | different from the parent and from each other |
| job | growth, repair, replacement, asexual reproduction | making gametes |
A fruit fly body cell has 8 chromosomes. How many chromosomes are in (a) a cell made by mitosis, (b) a gamete, (c) a zygote?
- (a) mitosis keeps the number: 8
- (b) meiosis halves it: 8 ÷ 2 = 4
- (c) two gametes fuse: 4 + 4 = 8
3Monohybrid inheritance
Key terms
| Term | Meaning |
|---|---|
| inheritance | the passing on of genetic information from one generation to the next |
| genotype | the alleles an organism has (for example Tt) |
| phenotype | the observable features of an organism (for example tall) |
| homozygous | two identical alleles of a gene (TT or tt) |
| heterozygous | two different alleles of a gene (Tt) |
| dominant | an allele that is expressed even if only one copy is present |
| recessive | an allele that is expressed only if no dominant allele is present |
| pure-breeding | homozygous for the feature, so it always breeds true |
From parents to the F1 generation
- P = the parents. F1 = the first generation of offspring. F2 = the second generation (offspring of the F1).
- Each gamete carries only one allele of the gene. The TT parent makes only T gametes and the tt parent makes only t gametes, so every F1 plant is Tt.
- All F1 plants are tall, because T is dominant. The t allele is still there, hidden.
The F1 × F1 cross (3 : 1)
- Phenotype ratio 3 : 1. Genotype ratio 1 : 2 : 1. The short plant reappears because the F1 plants both carry t.
- The 1 : 1 ratio: a heterozygous parent (Tt) crossed with a homozygous recessive parent (tt) gives Tt, Tt, tt, tt, which is 1 tall : 1 short.
Cystic fibrosis is caused by a recessive allele (f). Two parents without the condition each carry one f (Ff × Ff). Find the probability that their child (a) has CF, (b) is a carrier, (c) is unaffected.
- gametes from each parent: F or f
- Punnett square gives FF, Ff, Ff, ff
- (a) CF = ff = 1 out of 4 = 1/4 = 25%
- (b) carrier = Ff = 2 out of 4 = 1/2 = 50%
- (c) unaffected = FF or Ff = 3 out of 4 = 3/4 = 75%
In a Tt × Tt cross, 120 offspring are produced. How many would you expect to be short?
- short plants are tt = 1/4 of the offspring
- 120 × 1/4 = 120 ÷ 4 = 30 short
- the other 120 − 30 = 90 are tall
- real results are close to, but not exactly, the expected ratio, because fertilisation is random
Test crossEXTENDED
Test cross — EXT a cross between an individual showing the dominant phenotype (unknown genotype) and a homozygous recessive individual, used to find the unknown genotype.
- EXT All offspring show the dominant feature → the unknown parent is homozygous (TT).
- EXT Some offspring show the recessive feature (about 1 : 1) → the unknown parent is heterozygous (Tt).
Pedigrees
- How to read it: horizontal line = parents; vertical line down = children; shaded = affected; open = unaffected.
- Clue for a recessive condition: two unaffected parents have an affected child. The parents must be carriers (heterozygous, Aa) and the child is aa.
- Clue for a dominant condition: two affected parents have an unaffected child. The parents are heterozygous and the child has no dominant allele.
Codominance and the ABO blood groupsEXTENDED
Codominance — EXT when both alleles of a gene are expressed in the phenotype of a heterozygote.
- EXT The ABO blood group gene has three alleles: IA, IB and i. IA and IB are codominant, and i is recessive to both.
- EXT Group A = IAIA or IAi. Group B = IBIB or IBi. Group AB = IAIB. Group O = ii.
A woman is group O and her partner is group AB. Which blood groups can their children have?
- mother = ii, father = IAIB
- mother's gametes are all i; father's are IA or IB
- children are IAi (group A) or IBi (group B)
- group A or group B in a 1 : 1 ratio, never O or AB
Sex linkageEXTENDED
Sex linkage — EXT the association of a characteristic with the sex of the individual, because the gene is on a sex chromosome (usually X).
- EXT Red-green colour blindness is caused by a recessive allele (Xn) on the X chromosome. A woman needs two copies (XnXn) to be colour-blind, but a man needs only one (XnY).
- EXT More men than women are colour-blind. A carrier mother (XNXn) and a normal father (XNY) have daughters with normal vision and sons with a 1 in 2 chance of being colour-blind.
4Variation and mutation
Variation
Variation — differences between individuals of the same species.
- Causes: genes (inherited alleles) and the environment (for example diet, exercise, sunlight). Many features are affected by both.
| Feature | Continuous variation | Discontinuous variation |
|---|---|---|
| values | a range with all values in between | distinct categories |
| cause | genes and environment | usually genes only |
| examples | height, body mass, leaf length | blood group, tongue rolling, sex |
| graph | histogram (bars touch) or line graph | bar chart (gaps between bars) |
- To investigate: measure the feature in a large sample (50 or more), group the values and draw a graph. Continuous data gives a bell-shaped curve.
The lengths of five leaves from one tree are 42, 47, 45, 50 and 46 mm. Calculate the mean and the range.
- mean = total ÷ number
- total = 42 + 47 + 45 + 50 + 46 = 230
- mean = 230 ÷ 5 = 46 mm
- range = largest − smallest = 50 − 42 = 8 mm
Mutation
Mutation — genetic change.
- Mutation is the source of new alleles. The rate of mutation is increased by ionising radiation (UV rays, X-rays, gamma rays) and by some chemicals (for example tar in tobacco smoke).
- EXT A gene mutation is a random change in the sequence of DNA bases. It may change the amino acids in a protein and so its shape and function. Most are harmless, some are harmful (for example sickle-cell anaemia, caused by a one-base change in the haemoglobin gene) and a few are beneficial.
- EXT Sources of variation: mutation, meiosis (a new mix of chromosomes in each gamete), random mating and random fertilisation.
5Selection and adaptation
Adaptive features
Adaptive feature — an inherited feature that helps an organism survive and reproduce in its environment.
- EXT Fitness is the probability of an organism surviving and reproducing in the environment where it lives.
| Organism | Adaptive feature | How it helps |
|---|---|---|
| polar bear | thick fur and a fat layer; white fur | insulation against the cold; camouflage in snow |
| camel | large flat feet; hump of fat; long eyelashes | do not sink into sand; food store; keep sand out of the eyes |
| cactus | spines; thick waxy stem | less water lost; stores water |
| water lily | large floating leaves | catch lots of light at the surface |
XerophytesEXTENDED
Xerophyte — EXT a plant adapted to survive in dry habitats.
- EXT Less water lost: thick waxy cuticle, small leaves or spines (small surface area), sunken stomata and hairs (trap moist air), and rolled leaves.
- EXT Water stored in fleshy stems. Long or widely spread roots reach water.
HydrophytesEXTENDED
Hydrophyte — EXT a plant adapted to live partly or wholly in water.
- EXT Large, flat, floating leaves catch light and have stomata on the upper surface (in the air).
- EXT Air spaces in the leaves and stems make the plant float and carry oxygen to the roots. Thin (or no) cuticle, small roots and a flexible stem.
Natural selection
Natural selection — the process in which organisms that are better adapted to their environment survive and produce more offspring, passing on the alleles for their adaptive features.
- Five steps: (1) there is variation, (2) more offspring are produced than can survive, (3) there is competition (food, mates, predators), (4) the best adapted survive and breed, (5) they pass the helpful alleles to their offspring, so these alleles become more common over generations.
- EXT This is how populations become adapted to their environment, and over a very long time how new species can arise.
Antibiotic resistanceEXTENDED
- EXT A random mutation makes a bacterium resistant to an antibiotic. When the antibiotic is used, non-resistant bacteria die and resistant bacteria survive and reproduce. The allele for resistance becomes common: natural selection.
- EXT Reduce the problem: complete the full course of antibiotics, and do not use them for viral infections. (antibiotics)
Selective breeding
Selective breeding — the intentional breeding of individuals with desired features, so that the features become more common in the population (artificial selection).
- Examples: cattle for more milk or meat, wheat and rice for higher yield and disease resistance, flowers for colour and scent.
- It usually takes many generations. A disadvantage is that the variation in the population falls, so one disease may harm all of them.
| Natural selection | Artificial selection | |
|---|---|---|
| who chooses? | the environment | humans |
| what is selected? | features that help survival and reproduction | features that are useful to people |
| who benefits? | the organism | usually the farmer or customer |
6Test yourself
Test yourself — cover the answers first
Quick check
- Define a gene.
- What is an allele?
- How many chromosomes are in a human body cell?
- Which chromosomes make a human male?
- What is mitosis?
- Give two uses of mitosis.
- How does meiosis change the chromosome number?
- Define phenotype.
- What does heterozygous mean?
- What is the phenotype ratio of a Tt × Tt cross?
- What is the phenotype ratio of a Tt × tt cross?
- Give one example of continuous variation.
- Name two factors that increase the rate of mutation.
- What is an adaptive feature?
- Define selective breeding.
- EXT What do three bases in a gene code for?
- EXT What is a stem cell?
- EXT Why is a test cross done with a homozygous recessive?
- EXT Which blood group has the genotype IAIB?
- EXT Why are more men than women colour-blind?
- EXT Name two adaptations of a xerophyte.
Exam-style
- Describe how the sex of a baby is inherited. [3]
- State three differences between mitosis and meiosis. [3]
- Two heterozygous tall plants (Tt) are crossed. Use a Punnett square to show the genotypes and phenotype ratio of the offspring. [4]
- Describe the difference between continuous and discontinuous variation. [3]
- Describe how natural selection leads to a population becoming better adapted. [4]
- Describe how selective breeding could be used to produce a cow that gives more milk. [4]
- EXT Explain how a gene controls the production of a protein. [4]
- EXT Explain how bacteria become resistant to an antibiotic. [4]
- EXT A woman who is a carrier of colour blindness has children with a man with normal vision. Explain the chance that a son is colour-blind. [4]
Show answers
- a length of DNA that codes for a protein
- a version of a gene
- 46 (23 pairs)
- X and Y
- nuclear division giving genetically identical cells
- growth, repair, replacement of cells, asexual reproduction
- it halves it (diploid to haploid)
- the observable features of an organism
- having two different alleles of a gene
- 3 dominant : 1 recessive
- 1 dominant : 1 recessive
- height, body mass
- ionising radiation (UV, X-rays), some chemicals such as tar
- an inherited feature that helps survival and reproduction
- the intentional breeding of organisms with desired features
- one amino acid
- an unspecialised cell that divides by mitosis and can become specialised
- its gametes all carry the recessive allele, so the offspring show the unknown genotype
- group AB (codominance)
- the allele is recessive and on the X chromosome, and men have only one X
- thick waxy cuticle, spines or small leaves, water-storing stem, long or wide roots
- females have XX and males have XY
eggs all carry X; sperm carry X or Y
the sperm that fertilises the egg decides the sex (50% chance of each) - mitosis makes 2 cells and meiosis makes 4
mitosis keeps the chromosome number and meiosis halves it
mitosis gives identical cells and meiosis gives genetically different cells - gametes T and t from each parent
offspring TT, Tt, Tt, tt
1 TT : 2 Tt : 1 tt
3 tall : 1 short - continuous has a range of values with no clear categories (e.g. height)
discontinuous has distinct categories (e.g. blood group)
continuous is caused by genes and environment; discontinuous mostly by genes only - there is variation in the population
more offspring are born than can survive
the best adapted survive and reproduce
they pass on their alleles, so the allele becomes more common - choose a cow and a bull from parents with high milk yield
breed them together
choose the offspring that give the most milk
repeat over many generations - the base sequence of the gene is copied into mRNA
mRNA moves to a ribosome
ribosome joins amino acids in the order set by the mRNA
the amino acid sequence decides the shape of the protein - a random mutation makes a bacterium resistant
the antibiotic kills the non-resistant bacteria
the resistant bacterium survives and reproduces
the resistance allele becomes common (natural selection) - mother is XNXn, father is XNY
the son gets Y from the father and an X from the mother
the X from the mother is XN or Xn with equal chance
so there is a 1 in 2 (50%) chance that a son is colour-blind
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