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    PracticeAQA GCSEAQA GCSE Biology Higher Tier Paper 2Question 06.4
    Hard4 marksStructured
    Inheritance Variation and EvolutionHigherinheritancegeneticsprobability

    AQA GCSE · Question 06.4 · Inheritance Variation and Evolution

    Cystic fibrosis (CF) is another inherited disorder caused by a mutation. The mutation occurs in a gene called CFTR. For the CFTR gene, one allele in every 50 in the UK population is the cystic fibrosis allele.

    Explain why only one person in 2500 in the UK population has cystic fibrosis.

    How to approach this question

    1. First, state whether cystic fibrosis is dominant or recessive. How many copies of the allele are needed to have the disorder? 2. The question gives you the probability of having ONE CF allele in the population (the allele frequency). 3. To have the disorder, you need two of these alleles. How do you calculate the probability of two independent events both happening?

    Full Answer

    1. Cystic fibrosis is a recessive disorder. This means an individual must inherit two copies of the recessive allele (be homozygous recessive) to have the condition. 2. The probability of inheriting one CF allele is 1 in 50 (or 1/50). 3. To have the disorder, a person must inherit the CF allele from their mother AND from their father. 4. The probability of this happening is the product of the individual probabilities: (1/50) × (1/50) = 1/2500. Therefore, 1 in 2500 people are expected to have cystic fibrosis.
    This question involves understanding both recessive inheritance and probability. 1. **Recessive Inheritance:** Cystic fibrosis is a recessive genetic disorder. This is a crucial piece of information. It means that an individual must have two copies of the faulty CFTR allele to have the disease. Their genotype would be, for example, 'ff'. Individuals with one faulty allele and one normal allele ('Ff') are carriers but do not have the disease themselves. 2. **Allele Frequency:** The question states that the frequency of the cystic fibrosis allele ('f') in the population is 1 in 50, or a probability of 1/50. 3. **Probability Calculation:** For a child to be born with cystic fibrosis, they must inherit one CF allele from their mother and one CF allele from their father. These are independent events. The probability of inheriting the allele from one parent is 1/50. The probability of inheriting it from the other parent is also 1/50. To find the probability of both events happening, we multiply their individual probabilities: P(child has CF) = P(inherit from mother) × P(inherit from father) P(child has CF) = (1/50) × (1/50) P(child has CF) = 1/2500 This calculation, known as the Hardy-Weinberg principle for homozygous recessive individuals (q²), explains why the frequency of the disease (1 in 2500) is much lower than the frequency of the allele (1 in 50).

    Common mistakes

    ✗ Forgetting that CF is recessive and requires two alleles. ✗ Adding the probabilities (1/50 + 1/50) instead of multiplying them. ✗ Not being able to convert "one in every 50" to a probability of 1/50.
    Question 06.1All questionsQuestion 07.1

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