Skip to main content
Ch. 23 - Evolutionary Processes
Chapter 22, Problem 10

In humans, albinism is caused by loss-of-function mutations in genes involved in the synthesis of melanin, the dark pigment in skin. Only people homozygous for a loss-of-function allele (genotype 𝑎𝑎) have albinism. In one study of an American population, individuals with albinism were present at a frequency of about 1 in 10,000 (or 0.0001). Assuming that genotypes are in Hardy–Weinberg Equilibrium, what is the predicted frequency of individuals who are carriers (that is, 𝐴𝑎) for the albinism allele?

Verified step by step guidance
1
Identify the frequency of the homozygous recessive genotype (aa) in the population, which is given as 0.0001.
Use the Hardy-Weinberg principle, which states that the frequency of the alleles in the population can be represented as p^2 + 2pq + q^2 = 1, where p is the frequency of the dominant allele (A) and q is the frequency of the recessive allele (a).
Calculate the frequency of the recessive allele (q) by taking the square root of the frequency of the homozygous recessive genotype (q^2). Thus, q = sqrt(0.0001).
Determine the frequency of the dominant allele (p) using the relationship p + q = 1.
Calculate the frequency of the heterozygous genotype (Aa) using the formula 2pq.

Verified Solution

Video duration:
5m
This video solution was recommended by our tutors as helpful for the problem above.
Was this helpful?

Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Albinism and Genetic Mutations

Albinism is a genetic condition caused by mutations in genes responsible for melanin production, leading to a lack of pigment in skin, hair, and eyes. These mutations are typically loss-of-function, meaning they disrupt the normal function of the gene, resulting in the absence of melanin. Individuals with albinism are homozygous for the recessive allele (aa), while carriers possess one normal allele and one mutated allele (Aa).
Recommended video:

Hardy-Weinberg Equilibrium

The Hardy-Weinberg Equilibrium is a principle in population genetics that describes the genetic variation in a population under certain ideal conditions. It states that allele and genotype frequencies will remain constant from generation to generation in the absence of evolutionary influences. This model assumes no mutation, migration, selection, or genetic drift, allowing for the calculation of expected frequencies of genotypes based on allele frequencies.
Recommended video:
08:26
Testing if a Population is in Hardy-Weinberg Equilibrium

Carrier Frequency Calculation

To find the frequency of carriers (Aa) in a population under Hardy-Weinberg Equilibrium, we use the allele frequencies derived from the observed frequency of the homozygous recessive genotype (aa). If the frequency of aa is 0.0001, the frequency of the recessive allele (q) is the square root of this value. The frequency of carriers (Aa) can then be calculated using the formula 2pq, where p is the frequency of the dominant allele and q is the frequency of the recessive allele.
Recommended video:
03:30
A. Calculating Genotype Frequency from Allele Frequency
Related Practice
Textbook Question

Determine what is incorrect in the following statement: Deer mice living on beaches mutated their genes so that they could have white fur color, providing better camouflage to survive on beaches.

67
views
Open Question

Melissa Kemp is a conservation paleobiologist who studies how biodiversity has changed (and is changing) over time by integrating paleontology and genetics. She has studied how lizards in the Caribbean have evolved in response to changing ecological factors, including climate change. In one of her studies, Kemp identified that larger lizards were less likely to survive than smaller lizards. (1) Propose a hypothesis for what evolutionary mechanism could lead to this observation. (2) How could anthropogenic climate change potentially accelerate these evolutionary changes?

72
views
Textbook Question

Draw a small concept map showing how selection, genetic drift, gene flow, and mutation relate to genetic variation.

597
views
Textbook Question

Suppose you were a conservation biologist working to preserve two populations of monkeys. The first population has 5000 individuals, while the second population has 50,000 individuals. Which population do you expect to have higher genetic diversity? Consider which evolutionary process(es) may be different between these populations. Justify your response.

117
views
Textbook Question

Human activities are causing the fragmentation of the Brazilian Atlantic rain forest. One result is that toucans have become extinct or nearly extinct in some of the forest fragments. Does the absence of toucans affect the forest? Toucans disperse seeds of key forest species such as juçara palms by eating the fruit and defecating the seeds in new locations, sometimes more than a kilometer away. If there are no toucans, is the genetic diversity of palms likely to increase or decrease within forest fragments? Why? a. increase (due to increased genetic drift) b. decrease (due to decreased gene flow) c. decrease (due to decreased mutation rate) d. decrease (due to decreased natural selection)

379
views
Textbook Question

Human activities are causing the fragmentation of the Brazilian Atlantic rain forest. One result is that toucans have become extinct or nearly extinct in some of the forest fragments. Does the absence of toucans affect the forest? Toucans can eat fruits with large seeds because their large bills can open wide. Most other birds in the same forest can only eat small seeds. Ecologist Mauro Galetti and his colleagues measured the seed sizes of palms in forest fragments with and without toucans. The graphs show two of the forest populations they studied. What is the take-home message of the data?

343
views