How is information passed on through genes, and how do species change over time?
Sexual and asexual reproduction, meiosis, DNA and the genome, genetic inheritance and inherited disorders, variation and mutation, evolution by natural selection, selective breeding, genetic engineering, and evidence for evolution including fossils and extinction.
A focused answer to the AQA GCSE Combined Science: Trilogy Inheritance, variation and evolution topic, covering reproduction and meiosis, DNA and the genome, genetic inheritance and disorders, variation and mutation, evolution by natural selection, selective breeding and genetic engineering.
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What this topic is asking
AQA wants you to compare sexual and asexual reproduction and describe meiosis, explain DNA and the genome, use genetic diagrams and ratios, describe inherited disorders, explain variation and mutation, and explain evolution by natural selection along with selective breeding, genetic engineering and the evidence for evolution.
Reproduction and meiosis
Meiosis happens only in the reproductive organs and produces four genetically different gametes, each with half the number of chromosomes (in humans, 23 instead of 46). It does this through two divisions: the chromosomes are copied, then the cell divides twice so each gamete ends up with a single set. Genetic variation arises because the maternal and paternal chromosomes are shuffled. When two gametes fuse at fertilisation, the full chromosome number (the diploid number) is restored, and the new cell divides by mitosis to form an embryo. Asexual reproduction, by contrast, needs no gametes and produces offspring that are clones, which is fast and reliable but provides no variation to cope with environmental change.
DNA, the genome and inheritance
DNA is a polymer made of two strands coiled into a double helix, stored in structures called chromosomes inside the nucleus. A gene is a small section of DNA that codes for a particular sequence of amino acids, and so for a specific protein, which in turn affects a characteristic. The genome is the entire genetic material of an organism; the Human Genome Project mapped all human genes and helps scientists search for genes linked to disease, understand inherited disorders and trace human migration.
Genetic-cross diagrams (Punnett squares) predict the proportions of offspring genotypes and phenotypes. Inherited disorders include polydactyly (extra fingers or toes, caused by a dominant allele, so only one parent need carry it) and cystic fibrosis (a disorder of cell membranes, caused by a recessive allele, so both parents must be carriers). Sex is determined by the sex chromosomes: XX is female and XY is male, so a cross of XX with XY gives a 1 to 1 ratio of females to males.
Variation and evolution
Variation within a population is caused by differences in genes (inherited), differences in the environment, or a combination of both. Mutations are random changes to the DNA base sequence that occur continuously; most have little or no effect on the phenotype, a few are harmful, and very occasionally one produces a new characteristic that is advantageous, providing the raw material for evolution.
Humans also change organisms deliberately. Selective breeding (artificial selection) chooses parents with a desired characteristic (high milk yield, disease resistance, large fruit) and breeds them over many generations, though it can reduce the gene pool and cause inbreeding problems. Genetic engineering cuts a useful gene from one organism and transfers it into another, for example inserting the human insulin gene into bacteria so they make insulin, or making crops resistant to pests or herbicides; there are benefits (higher yields, medicines) and concerns (effects on wild populations and ethics). Evidence for evolution comes from fossils (showing how organisms changed over time, though the early fossil record is incomplete because soft-bodied organisms rarely fossilise) and from observing rapid evolution such as antibiotic-resistant bacteria. Extinction occurs when the environment changes faster than a species can adapt, a new predator or disease appears, or a catastrophic event happens, so no individuals of the species remain.
Exam-style practice questions
Practice questions written in the style of AQA exam questions on this dot point, with worked answer explainers. The year tag is the paper they imitate, not the source.
AQA 20194 marksCystic fibrosis is caused by a recessive allele (f). Two parents who are both heterozygous (Ff) have a child. Draw a genetic cross to find the probability that the child has cystic fibrosis.Show worked answer →
A Biology Paper 2 genetic-cross calculation. Method: set up a Punnett square with parental gametes F and f along each axis. The four offspring genotypes are FF, Ff, Ff and ff. Cystic fibrosis appears only in the homozygous recessive ff, which is 1 out of 4, so the probability is or 25 percent. Markers award the correctly completed Punnett square, identification of ff as the affected genotype, and the probability expressed as a fraction, ratio or percentage. The most common error is treating the disorder as dominant; emphasise that a recessive condition needs two copies of the allele.
AQA 20216 marksExplain how a population of bacteria can become resistant to an antibiotic, using the theory of evolution by natural selection.Show worked answer →
A Paper 2 extended-response question on natural selection, levelled marking. Reward the sequence: within a population there is genetic variation caused by random mutations, and by chance some bacteria carry an allele that makes them resistant to the antibiotic. When the antibiotic is used, the non-resistant bacteria are killed but the resistant ones survive. The survivors reproduce (rapidly, by binary fission) and pass on the resistance allele to their offspring. Over many generations the proportion of resistant bacteria in the population increases until most are resistant. Top answers link mutation to variation, selection by the antibiotic, survival and reproduction of the fittest, and inheritance of the advantageous allele, and may note this is why antibiotics should not be overused.
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Sources & how we know this
- AQA GCSE Combined Science: Trilogy (8464) specification — AQA (2016)