In a family with a history of osteogenesis imperfecta (caused by a dominant negative mutation in a collagen gene), a couple is concerned about the risk of their child inheriting th... In a family with a history of osteogenesis imperfecta (caused by a dominant negative mutation in a collagen gene), a couple is concerned about the risk of their child inheriting the condition. If one parent is heterozygous for the mutation and the other is unaffected, what is the probability that their child will produce 25% of normal levels of functional collagen dimer?
Understand the Problem
The question describes a scenario of genetic inheritance of osteogenesis imperfecta, caused by a dominant negative mutation in a collagen gene. One parent is heterozygous for the mutation, while the other is unaffected. We need to compute the probability that their child will produce 25% of normal levels of functional collagen dimer. This requires understanding dominant negative mutations and how they affect protein production, as well as basic probability in genetics.
Answer
The probability is approximately 25%.
The probability that their child will produce 25% of normal levels of functional collagen dimer is approximately 25%. This is because the child has a 50% chance of inheriting the affected allele and, if so, would produce reduced levels of normal collagen.
Answer for screen readers
The probability that their child will produce 25% of normal levels of functional collagen dimer is approximately 25%. This is because the child has a 50% chance of inheriting the affected allele and, if so, would produce reduced levels of normal collagen.
More Information
Osteogenesis Imperfecta (OI) is a genetic disorder affecting bone formation, primarily caused by mutations in the COL1A1 and COL1A2 genes. In cases of dominant inheritance, each child of an affected individual has a 50% chance of inheriting the mutated gene. Since the mutation is dominant negative, even one copy can disrupt normal collagen production.
Tips
It's easy to confuse the chance of inheriting the gene with the percentage of normal collagen produced. The 50% inheritance risk does not directly translate to 50% collagen production. The question asks for probability of producing 25% of normal levels of functional collagen dimer.
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