Question

A certain form of albinism in humans is recessive and autosomal. Assume that \(1 \%\) of the individuals in a given population are albino. Assuming that the population is in HardyWeinberg equilibrium, what percentage of the individuals in this population is expected to be heterozygous?

Short answer

Answer: 18%

Step-by-step solution

Determine the frequency of the recessive allele (q)

Since 1% of individuals in the population are albino, we are given the frequency of homozygous recessive individuals (aa). Therefore, $$q^2 = 0.01$$. Now we will find the frequency of the recessive allele (q) by taking the square root of $$q^2$$: $$q = \sqrt{0.01} = 0.1$$

Determine the frequency of the dominant allele (p)

Now that we have the frequency of the recessive allele (q), we can find the frequency of the dominant allele (p). Since we know that p + q = 1, we can calculate p like this: $$p = 1 - q = 1 - 0.1 = 0.9$$

Calculate the frequency of heterozygous individuals (Aa)

Now that we have both p and q, we can use the Hardy-Weinberg equation to find the frequency of heterozygous individuals (Aa). This can be calculated using the term $$2pq$$: $$2pq = 2 * 0.9 * 0.1 = 0.18$$ This means that 18% of the individuals in the population are expected to be heterozygous.

Key concepts

Recessive Allele Frequency

In genetics, the term 'recessive allele frequency' relates to how often a recessive allele appears in a given gene pool. Alleles are different versions of a gene, and in the context of the Hardy-Weinberg equilibrium, we often denote the frequency of a recessive allele as \( q \). In a population that follows the Hardy-Weinberg principles, the sum of the frequencies of all alleles for a particular gene should equal 1.
When dealing with an autosomal recessive trait, like albinism in humans, these traits only express themselves in individuals with two copies of the recessive allele. If 1% of the population shows this trait, the frequency of these individuals is represented by \( q^2 \). To find \( q \), the frequency of the recessive allele, we take the square root of \( q^2 \).

• For example, if 1% of the population is affected \( (q^2 = 0.01) \), then \( q = \sqrt{0.01} = 0.1 \).

Heterozygous Individuals

Heterozygous individuals carry two different alleles for a particular gene. In the context of autosomal recessive inheritance, such individuals have one dominant and one recessive allele (denoted as Aa). Even though they carry a recessive allele, the dominant allele prevents them from displaying the recessive trait.
The frequency of heterozygous individuals in a population can be calculated using the Hardy-Weinberg equation, which takes the form \( 2pq \). Here, \( p \) is the frequency of the dominant allele and \( q \) is the frequency of the recessive allele.

• For instance, with \( p = 0.9 \) and \( q = 0.1 \) from our previous calculations, the frequency of heterozygous individuals is \( 2 \times 0.9 \times 0.1 = 0.18 \) or 18%.

This finding is crucial because heterozygous individuals act as carriers of the recessive allele. They can pass it on to their offspring, potentially leading to the expression of the recessive trait if combined with another recessive allele.

Autosomal Recessive Inheritance

Autosomal recessive inheritance refers to how certain genetic traits or disorders are passed on through genes located on autosomes, which are chromosomes not involved in determining sex. Such traits only manifest when both alleles are recessive.
This type of genetic inheritance means that a person will only exhibit the recessive condition if they inherit one recessive allele from each parent. Otherwise, if at least one dominant allele is present, the dominant trait will express itself.

• Siblings of affected individuals have a 25% chance of being afflicted if both parents are carriers.
• In cases of autosomal recessive conditions, many carriers may unknowingly pass on the allele since they do not exhibit any symptoms.

Understanding autosomal recessive inheritance is essential for predicting genetic conditions and counseling families regarding their genetic health. It explains why certain traits skip generations and suddenly appear without a clear pattern.