A Patient with Abnormally High Iron Levels Is Tested to Determine

question 20

Multiple Choice

A patient with abnormally high iron levels is tested to determine if hemochromatosis, specifically the C282Y mutation in the HFE gene, is the cause. The patient's DNA is isolated from whole blood and amplified. Amplicons are then cut with RsaI, and the resulting fragments are separated by gel electrophoresis. There are no RsaI sites in the normal 250 bp PCR product, while the C282Y mutation generates one RsaI site. The lane containing the patient's sample has three bands at 250 bp, 140 bp, and 110 bp. Controls were acceptable. Which of the following is the correct interpretation of these results?

• A) Normal
• B) Heterozygous mutation
• C) Homozygous mutation
• D) Wrong target and method performed for this disease

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Definitions:

Total Lung Capacity

The maximum amount of air the lungs can hold, typically measured after a maximal inhalation effort.

Tidal Volume

The volume of air displaced between normal inhalation and exhalation when extra effort is not applied, a key component of respiratory physiology.

Hyperventilates

Breathing at an abnormally rapid rate, leading to decreased carbon dioxide levels in the blood.

Carbon Dioxide

Carbon dioxide is a colorless, odorless gas produced by burning carbon and organic compounds and by respiration. It is naturally present in the air and is absorbed by plants in photosynthesis.