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.
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.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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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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