You Are Studying a Disease That Is Known to Be

question 35

Multiple Choice

You are studying a disease that is known to be caused by a single nucleotide change in a single gene, although the effect this change ultimately has on the protein's structure and function is unknown.You have DNA samples from multiple patients that you suspect of having this disease.What is the most efficient way to test the samples for the relevant mutation?

• A)Preimplantation genetic diagnosis
• B)PCR amplification followed by Sanger DNA sequencing
• C)PCR amplification followed by gel electrophoresis
• D)High-throughput exome sequencing
• E)High-throughput genome sequencing

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Definitions:

Head Tilt-chin Lift Maneuver

A first aid technique used to open the airway of an unconscious patient to facilitate breathing.

Rescue Breaths

A component of CPR that involves breathing for the person who is not breathing on their own, to provide them with oxygen.

Acute Asthma Episode

A sudden exacerbation of asthma symptoms, such as wheezing, coughing, and shortness of breath, requiring immediate medical attention.

Pulse Oximetry

A noninvasive method to monitor the oxygen saturation level of the blood.