How is the absorption of ultraviolet light by DNA and RNA important in the analysis of nucleic acids?
Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
7. DNA and Chromosome Structure
DNA as the Genetic Material
Problem 31a
Textbook Question
Albinism, an autosomal recessive trait characterized by an absence of skin pigmentation, is found in 1 in 4000 people in populations at equilibrium. Brachydactyly, an autosomal dominant trait producing shortened fingers and toes, is found in 1 in 6000 people in populations at equilibrium. For each of these traits, calculate the frequency of the recessive allele at the locus

1
Understand the problem: Albinism is an autosomal recessive trait, meaning individuals with the condition must have two copies of the recessive allele (aa). The frequency of individuals with albinism in the population is given as 1 in 4000. This corresponds to the genotype frequency of homozygous recessive individuals (q²). Similarly, for brachydactyly, an autosomal dominant trait, the frequency of affected individuals is 1 in 6000, which includes both heterozygous (Aa) and homozygous dominant (AA) genotypes.
For albinism, use the Hardy-Weinberg equation to calculate the frequency of the recessive allele (q). The Hardy-Weinberg equation is p² + 2pq + q² = 1, where p is the frequency of the dominant allele, q is the frequency of the recessive allele, p² is the frequency of homozygous dominant individuals, 2pq is the frequency of heterozygous individuals, and q² is the frequency of homozygous recessive individuals. Since q² = 1/4000, calculate q by taking the square root of q²: q = √(1/4000).
For brachydactyly, note that the frequency of affected individuals (1/6000) includes both heterozygous (2pq) and homozygous dominant (p²) genotypes. To calculate the frequency of the recessive allele (q), first determine the frequency of unaffected individuals (q²), which is the complement of the affected frequency: q² = 1 - (frequency of affected individuals). Then calculate q by taking the square root of q²: q = √q².
Once you have calculated q for both traits, you can also calculate the frequency of the dominant allele (p) using the relationship p + q = 1. Rearrange this equation to solve for p: p = 1 - q.
Summarize the results: The frequency of the recessive allele (q) for albinism and brachydactyly can be determined using the Hardy-Weinberg principle. Ensure that all calculations are consistent with the assumptions of Hardy-Weinberg equilibrium, such as random mating, no mutation, no migration, no selection, and a large population size.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Hardy-Weinberg Principle
The Hardy-Weinberg Principle provides a mathematical framework for understanding allele frequencies in a population at genetic equilibrium. It states that allele and genotype frequencies will remain constant from generation to generation in the absence of evolutionary influences. This principle is essential for calculating allele frequencies, particularly in traits governed by simple Mendelian inheritance.
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Autosomal Recessive Inheritance
Autosomal recessive inheritance occurs when a trait is expressed only when an individual has two copies of the recessive allele. In the case of albinism, the absence of skin pigmentation results from inheriting two recessive alleles. Understanding this inheritance pattern is crucial for calculating the frequency of the recessive allele in a population.
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Allele Frequency Calculation
Allele frequency calculation involves determining the proportion of a specific allele within a population. For recessive traits, the frequency of the recessive allele can be derived from the proportion of individuals expressing the trait, using the formula q^2 = frequency of recessive phenotype. This calculation is vital for understanding genetic variation and predicting the likelihood of traits in future generations.
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