In diploid organisms there are _______ chromosomal copies. In haploid organisms there is _______ chromosomal copy.
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
2. Mendel's Laws of Inheritance
Inheritance in Diploids and Haploids
Problem B.1a
Textbook Question
Answer the following questions for autosomal conditions such as PKU.
If both parents are heterozygous carriers of a mutant allele, what is the chance that their first child will be homozygous recessive for the mutation?

1
Identify the inheritance pattern: Since the condition is autosomal recessive, the disease manifests only when an individual has two copies of the mutant allele (homozygous recessive).
Define the genotypes of the parents: Both parents are heterozygous carriers, meaning their genotype is , where is the normal allele and is the mutant allele.
Set up a Punnett square to determine the possible genotypes of their offspring by combining the alleles from each parent: the possible combinations are , , , and .
Calculate the probability of the child being homozygous recessive (): count the number of outcomes over the total possible outcomes in the Punnett square.
Express the probability as a fraction or percentage to represent the chance that the first child will be homozygous recessive for the mutation.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Autosomal Recessive Inheritance
Autosomal recessive inheritance occurs when a trait or disorder is expressed only if an individual inherits two copies of a mutant allele, one from each parent. Carriers have one normal and one mutant allele but typically do not show symptoms. Diseases like PKU follow this pattern.
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Autosomal Pedigrees
Genotype Probability in Offspring
When both parents are heterozygous carriers (Aa), the possible genotypes for their child are AA, Aa, or aa. Using a Punnett square, the probability of the child being homozygous recessive (aa) is 25%, as each allele is inherited independently.
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Probability
Phenotypic Expression of Homozygous Recessive
Individuals who are homozygous recessive (aa) for a mutation typically express the autosomal recessive condition, such as PKU. This means the disease phenotype manifests only when both alleles are mutant, highlighting the importance of genotype in predicting disease risk.
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Penetrance and Expressivity
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