The pedigree below shows the inheritance of a disease that is caused by a late onset, dominant, autosomal mutation that is rare, but only 50% penetrant. The gene that is mutated in the disease is linked at a distance of 10 cM to a microsatellite marker that has alleles numbered 1, 2, and 3. The marker alleles detected in each individual are indicated below the pedigree. 13 12 ? 12 A 22 O 32 ? 32 B a. What is the probability that individual A will develop the disease? Explain you reasoning using an illustration of how this occurs. b. What is the probability that individual B will develop the disease? Explain your reasoning.

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The image depicts a pedigree chart illustrating the inheritance pattern of a disease linked to a late-onset, dominant, autosomal mutation that is rare and exhibits 50% penetrance. The gene responsible for the disease is associated with a microsatellite marker located 10 cM away, with alleles labeled 1, 2, and 3. The marker alleles present in each individual are shown beneath the pedigree chart.

**Pedigree Analysis:**

- The pedigree shows a family structure involving two parents and their offspring.
- The father is represented as a filled square (indicative of having the disease) with marker alleles 1 and 3.
- The mother is depicted as a half-filled circle (suggesting possible carrier status or reduced penetrance) with marker alleles 2 and 2.
- Their offspring include one square (male) and one circle (female).
- Individual A has alleles 1 and 2, while individual B has alleles 3 and 2.

**Questions:**

a. **What is the probability that individual A will develop the disease? Explain your reasoning using an illustration of how this occurs.**

- **Explanation:** Individual A has received allele 1 from the father and allele 2 from the mother. Since the disease is linked to a dominant allele (likely allele 1 from the father), the probability of inheriting the disease-causing allele is influenced by the linkage and the penetrance:
  - Transmission probability: 50% (for inheriting allele 1)
  - Penetrance: 50%
  
  Therefore, the probability that individual A will develop the disease is 0.5 (inheritance probability) × 0.5 (penetrance) = 25%.

b. **What is the probability that individual B will develop the disease? Explain your reasoning.**

- **Explanation:** Individual B has alleles 3 (from the father) and 2 (from the mother). Since allele 3 is not associated with the presence of the disease (as observed in the father), individual B has not inherited the disease-causing allele. Therefore, the probability that individual B will develop the disease is 0%, based on the alleles present and the family history shown in the pedigree.

This pedigree demonstrates the complexity of genetic inheritance, especially with factors like penetrance playing a crucial role in disease expression.
Transcribed Image Text:The image depicts a pedigree chart illustrating the inheritance pattern of a disease linked to a late-onset, dominant, autosomal mutation that is rare and exhibits 50% penetrance. The gene responsible for the disease is associated with a microsatellite marker located 10 cM away, with alleles labeled 1, 2, and 3. The marker alleles present in each individual are shown beneath the pedigree chart. **Pedigree Analysis:** - The pedigree shows a family structure involving two parents and their offspring. - The father is represented as a filled square (indicative of having the disease) with marker alleles 1 and 3. - The mother is depicted as a half-filled circle (suggesting possible carrier status or reduced penetrance) with marker alleles 2 and 2. - Their offspring include one square (male) and one circle (female). - Individual A has alleles 1 and 2, while individual B has alleles 3 and 2. **Questions:** a. **What is the probability that individual A will develop the disease? Explain your reasoning using an illustration of how this occurs.** - **Explanation:** Individual A has received allele 1 from the father and allele 2 from the mother. Since the disease is linked to a dominant allele (likely allele 1 from the father), the probability of inheriting the disease-causing allele is influenced by the linkage and the penetrance: - Transmission probability: 50% (for inheriting allele 1) - Penetrance: 50% Therefore, the probability that individual A will develop the disease is 0.5 (inheritance probability) × 0.5 (penetrance) = 25%. b. **What is the probability that individual B will develop the disease? Explain your reasoning.** - **Explanation:** Individual B has alleles 3 (from the father) and 2 (from the mother). Since allele 3 is not associated with the presence of the disease (as observed in the father), individual B has not inherited the disease-causing allele. Therefore, the probability that individual B will develop the disease is 0%, based on the alleles present and the family history shown in the pedigree. This pedigree demonstrates the complexity of genetic inheritance, especially with factors like penetrance playing a crucial role in disease expression.
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