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Ch. 26 - Population and Evolutionary Genetics
Klug - Concepts of Genetics 12th Edition
Klug12th EditionConcepts of GeneticsISBN: 9780135564776Non è quello che usi tu?Cambia libro di testo
Capitolo 26, Problema 6a

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:
0.0064

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Identify the given frequency of the disorder in the population, which represents the frequency of individuals who are homozygous recessive (q²). In this case, q² = 0.0064.
Calculate the allele frequency of the recessive allele (q) by taking the square root of q²: \(q = \sqrt{q^{2}}\).
Determine the frequency of the dominant allele (p) using the relationship \(p + q = 1\), so \(p = 1 - q\).
Calculate the frequency of heterozygous carriers (2pq) using the formula for heterozygotes in Hardy-Weinberg equilibrium: \(2pq = 2 \times p \times q\).
Convert the frequency of heterozygous carriers to a percentage by multiplying the result by 100.

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Autosomal Recessive Inheritance

Autosomal recessive disorders require two copies of a mutant allele for the phenotype to be expressed. Individuals with only one mutant 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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Autosomal Pedigrees

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 from Disease Prevalence

For an autosomal recessive disorder, the disease frequency corresponds to q² (homozygous recessive). 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.
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New Alleles and Migration
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