The frequency of an autosomal recessive condition is 0.001 (1 in 1000) in a population. What is the frequency of the mutant allele?

Key Concepts

Hardy-Weinberg Principle

The Hardy-Weinberg Principle provides a mathematical framework for understanding allele and genotype frequencies in a population at equilibrium. It states that in a large, randomly mating population with no evolutionary influences, the frequencies of alleles and genotypes will remain constant from generation to generation. This principle is essential for calculating allele frequencies, particularly in the context of autosomal recessive conditions.

Allele Frequency

Allele frequency refers to how often a particular allele appears in a population compared to other alleles for the same gene. In the case of an autosomal recessive condition, the frequency of the mutant allele can be derived from the frequency of affected individuals. Understanding allele frequency is crucial for predicting the likelihood of genetic traits and conditions within a population.

Autosomal Recessive Inheritance

Autosomal recessive inheritance occurs when a trait or condition is expressed only when an individual has two copies of the recessive allele. In a population, the frequency of individuals affected by an autosomal recessive condition can be used to estimate the frequency of the recessive allele using the formula p^2 + 2pq + q^2 = 1, where q^2 represents the frequency of the recessive phenotype. This concept is vital for understanding how genetic disorders are passed through generations.