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A 3-Year-Old Boy Is Being Evaluated for Recurrent Respiratory Infections

question 71

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A 3-year-old boy is being evaluated for recurrent respiratory infections.  The patient's family immigrated to the United States 5 months after his birth.  Since then, the boy has experienced multiple episodes of pneumonia and bronchitis, and has developed a persistent cough and failure to thrive.  His older brother has no medical issues.  A genetic test is performed and reveals a mutation in an exon of a gene that codes for a transmembrane chloride channel.  The abnormal mRNA is isolated from cultured epithelial cells, and its complementary DNA is synthesized.  Amplified cDNA samples from both the patient and his healthy sibling are analyzed using gel electrophoresis and compared to DNA fragments of known size to determine base pair length.  The results are shown below. A 3-year-old boy is being evaluated for recurrent respiratory infections.  The patient's family immigrated to the United States 5 months after his birth.  Since then, the boy has experienced multiple episodes of pneumonia and bronchitis, and has developed a persistent cough and failure to thrive.  His older brother has no medical issues.  A genetic test is performed and reveals a mutation in an exon of a gene that codes for a transmembrane chloride channel.  The abnormal mRNA is isolated from cultured epithelial cells, and its complementary DNA is synthesized.  Amplified cDNA samples from both the patient and his healthy sibling are analyzed using gel electrophoresis and compared to DNA fragments of known size to determine base pair length.  The results are shown below.   Which of the following is most likely responsible for this patient's condition? A) Frameshift mutation B) In-frame deletion C) Missense mutation D) Nonsense mutation E) Silent mutation F) Trinucleotide expansion Which of the following is most likely responsible for this patient's condition?

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