Which of the following formulas can be used to calculate heterozygote frequency in a population?
Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
21. Population Genetics
Hardy Weinberg
Problem 6e
Textbook Question
Consider rare disorders in a population caused by an autosomal recessive mutation. From the frequencies of the disorder in the population given, calculate the percentage of heterozygous carriers:
0.10

1
Identify that the disorder is autosomal recessive, meaning individuals with the disorder are homozygous recessive (genotype aa). The frequency of affected individuals in the population is given as 0.10, which corresponds to q² in Hardy-Weinberg equilibrium.
Calculate the allele frequency of the recessive allele (q) by taking the square root of the frequency of affected individuals: .
Determine the frequency of the dominant allele (p) using the relationship , so .
Calculate the frequency of heterozygous carriers (genotype Aa) using the Hardy-Weinberg formula for heterozygotes: .
Convert the frequency of heterozygous carriers to a percentage by multiplying the result by 100.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Autosomal Recessive Inheritance
Autosomal recessive disorders require two copies of a mutated gene for the phenotype to appear. Individuals with only one mutated allele are carriers and typically do not show symptoms. Understanding this inheritance pattern is essential to relate genotype frequencies to disease prevalence.
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Hardy-Weinberg Equilibrium
The Hardy-Weinberg principle provides a mathematical framework to relate allele and genotype frequencies in a population under random mating and no evolutionary forces. It allows calculation of carrier frequencies from disease prevalence using the equation p² + 2pq + q² = 1.
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Calculating Carrier Frequency
For an autosomal recessive disorder with frequency q², the carrier frequency is 2pq, where p ≈ 1 for rare alleles. By taking the square root of disease frequency to find q, one can estimate the percentage of heterozygous carriers in the population.
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