Question

Brittle Bone Disease is caused by a mutation in a gene that codes for collagen fibers. The product of the mutant allele binds to normal collagen and disrupts proper fiber formation. The mutation can be described as __________?

1) A missense mutation
2) A nonsense mutation
3) A frameshift mutation
4) A silent mutation

Answer 1

Brittle Bone Disease is caused by a missense mutation, resulting in the substitution of amino acids in the collagen fibers that disrupts fiber formation and leads to fragile bones.

Step-by-step explanation:

The mutation that causes Brittle Bone Disease, also known as Osteogenesis Imperfecta, is a missense mutation. This type of mutation occurs when a single nucleotide change in the DNA sequence results in the substitution of one amino acid for another in the protein product. In the case of Brittle Bone Disease, the mutation in the gene that codes for collagen fibers leads to the substitution of bulky side chain amino acids for glycine, disrupting proper fiber formation and causing the bones to be fragile and easily fractured.