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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:
0.01
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Ch. 26 - Population and Evolutionary Genetics
Klug12th EditionConcepts of GeneticsISBN: 9780135564776
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TOC.tableOfContents
- Ch. 1 - Introduction to Genetics17
- Ch. 2 - Mitosis and Meiosis36
- Ch. 3 - Mendelian Genetics51
- Ch. 4 - Extensions of Mendelian Genetics74
- Ch. 5 - Chromosome Mapping in Eukaryotes51
- Ch. 6 - Genetic Analysis and Mapping in Bacteria and Bacteriophages46
- Ch. 7 - Sex Determination and Sex Chromosomes33
- Ch. 8 - Chromosome Mutations: Variation in Number and Arrangement40
- Ch. 9 - Extranuclear Inheritance31
- Ch. 10 - DNA Structure and Analysis43
- Ch. 11 - DNA Replication and Recombination44
- Ch. 12 - DNA Organization in Chromosomes30
- Ch. 13 - The Genetic Code and Transcription54
- Ch. 14 - Translation and Proteins47
- Ch. 15 - Gene Mutation, DNA Repair, and Transposition41
- Ch. 16 - Regulation of Gene Expression in Bacteria29
- Ch. 17 - Transcriptional Regulation in Eukaryotes41
- Ch. 18 - Post-transcriptional Regulation in Eukaryotes33
- Ch. 19 - Epigenetics33
- Ch. 20 - Recombinant DNA Technology44
- Ch. 21 - Genomic Analysis36
- Ch. 22 - Applications of Genetic Engineering and Biotechnology36
- Ch. 23 - Developmental Genetics37
- Ch. 24 - Cancer Genetics34
- Ch. 25 - Quantitative Genetics and Multifactorial Traits54
- Ch. 26 - Population and Evolutionary Genetics45
Klug12th EditionConcepts of GeneticsISBN: 9780135564776Non è quello che usi tu?Cambia libro di testo
Capitolo 26, Problema 6b
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:
0.000081
Guida verificata passo dopo passo1
Identify the given value as the frequency of individuals affected by the autosomal recessive disorder, which corresponds to the homozygous recessive genotype frequency \(q^2 = 0.000081\).
Calculate the allele frequency of the recessive allele \(q\) by taking the square root of the affected frequency: \(q = \sqrt{q^2}\).
Determine the frequency of the dominant allele \(p\) using the relationship \(p + q = 1\), so \(p = 1 - q\).
Calculate the frequency of heterozygous carriers (the carriers) using the Hardy-Weinberg formula for heterozygotes: \$2pq$.
Convert the heterozygous carrier frequency \$2pq$ into a percentage by multiplying by 100 to express the final answer as a percentage of the population.
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Autosomal Recessive Inheritance
Autosomal recessive disorders require two copies of a mutated gene for the phenotype to appear. Individuals with only one mutated 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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Percorso guidato
09:08
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 p² + 2pq + q² = 1, where q² represents affected individuals.
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13:04Hardy Weinberg
Calculating Carrier Frequency from Disease Prevalence
For an autosomal recessive disorder, the disease frequency equals 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 in the population.
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03:03New Alleles and Migration
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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:
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