Helen has type I osteogenesis imperfecta (OI), a genetic skeletal disorder.Shown below is her DNA sequence for a portion of the coding region of the collagen type I gene, which contains the mutation responsible for her disorder.The corresponding wild-type sequence is shown also (only one DNA strand is shown in each case). Helen 5'-AAACTCCACTTCTTCCAGTAC-3'
Normal 5'-AAACTCACTTCTTCCAGTAC-3'
What type of mutation does Helen carry?

Question

Quizplus · Accepted Answer

Helen carries a frameshift mutation, as there is an insertion of a C nucleotide in her sequence compared to the normal sequence. This causes a shift in the reading frame of the subsequent codons, resulting in a premature stop codon and a truncated protein.

Helen Has Type I Osteogenesis Imperfecta (OI), a Genetic Skeletal