A botanist studying water lilies in an isolated pond observed three leaf shapes in the population: round, arrowhead, and scalloped. Marker analysis of DNA from 125 individuals showed the round-leaf plants to be homozygous for allele r1, while the plants with arrowhead leaves were homozygous for a different allele at the same locus, r2. Plants with scalloped leaves showed DNA profiles with both the r1 and r2 alleles. Frequency of the r1 allele was estimated at 0.81. If the botanist counted 20 plants with scalloped leaves in the pond, what is the inbreeding coefficient F for this 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
Allelic Frequency Changes
Problem 22c
Textbook Question
Tay–Sachs disease is an autosomal recessive neurological disorder that is fatal in infancy. Despite its invariably lethal effect, Tay–Sachs disease occurs at very high frequency in some Central and Eastern European (Ashkenazi) Jewish populations. In certain Ashkenazi populations, 1 in 750 infants has Tay–Sachs disease. Population biologists believe the high frequency is a consequence of genetic bottlenecks caused by pogroms (genocide) that have reduced the population multiple times in the past several hundred years. In the population described, what is the frequency of the recessive allele that produces Tay–Sachs disease?

1
Step 1: Recognize that Tay–Sachs disease is autosomal recessive, meaning individuals with the disease must inherit two copies of the recessive allele (homozygous recessive). The frequency of affected individuals in the population is given as 1 in 750. This corresponds to the genotype frequency of homozygous recessive individuals (q²).
Step 2: Use the Hardy-Weinberg equation to relate genotype frequencies to allele frequencies. The equation is: \( p^2 + 2pq + q^2 = 1 \), where \( q^2 \) represents the frequency of homozygous recessive individuals, \( q \) is the frequency of the recessive allele, and \( p \) is the frequency of the dominant allele. Start by setting \( q^2 = \frac{1}{750} \).
Step 3: Solve for \( q \), the frequency of the recessive allele, by taking the square root of \( q^2 \). This gives \( q = \sqrt{\frac{1}{750}} \).
Step 4: Once \( q \) is determined, you can also calculate \( p \), the frequency of the dominant allele, using the relationship \( p + q = 1 \). Rearrange to find \( p = 1 - q \).
Step 5: Interpret the result. The value of \( q \) represents the frequency of the recessive allele in the population, which is higher than expected due to historical genetic bottlenecks as described in the problem.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Autosomal Recessive Inheritance
Tay-Sachs disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the recessive allele (one from each parent) to express the disease. Carriers, who possess only one copy of the recessive allele, do not show symptoms but can pass the allele to their offspring. This inheritance pattern is crucial for understanding the genetic basis of the disease and its prevalence in certain populations.
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Hardy-Weinberg Principle
The Hardy-Weinberg principle provides a mathematical framework for understanding allele frequencies in a population at equilibrium. It states that allele and genotype frequencies will remain constant from generation to generation in the absence of evolutionary influences. This principle can be used to calculate the frequency of the recessive allele in the context of Tay-Sachs disease, given the prevalence of affected individuals in the population.
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Hardy Weinberg
Genetic Bottleneck
A genetic bottleneck occurs when a population's size is significantly reduced for at least one generation, leading to a loss of genetic diversity. In the case of Ashkenazi Jews, historical events such as pogroms have caused such bottlenecks, resulting in a higher frequency of certain genetic disorders, including Tay-Sachs disease. Understanding this concept helps explain why certain alleles can become more common in specific populations due to historical demographic events.
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