A 16-year-old girl with a history of anemia since childhood is evaluated for a genetic abnormality after several members of her family are also found to be anemic. It is determined that she has a point mutation in the beta globin gene, which has resulted in the substitution of guanine (G) with cytosine (C) in the mRNA sequence shown below (+1 position indicates start codon). Which of the following cellular processes is most likely impaired due to this patient's gene mutation?

Question

A 16-year-old girl with a history of anemia since childhood is evaluated for a genetic abnormality after several members of her family are also found to be anemic.  It is determined that she has a point mutation in the beta globin gene, which has resulted in the substitution of guanine (G) with cytosine (C) in the mRNA sequence shown below (+1 position indicates start codon).  Which of the following cellular processes is most likely impaired due to this patient's gene mutation?

Quizplus · Accepted Answer

Eductional Objective: This patient has Beta thalassemia due to a mutation in the Beta globin gene just before the methionine start codon (AUG) that is most likely disrupting translation initiation. Eukaryotic translation initiation requires the assembly of ribosomal subunits (60S and 40S), mRNA, initiation factors, initiator tRNA charged with methionine, and guanosine-5-triphosphate (GTP).

A 16-Year-Old Girl with a History of Anemia Since Childhood