You are studying a disease that is known to be caused by a single nucleotide change...
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?
Select one:
a. PCR amplification followed by Sanger DNA sequencing
b. PCR amplification followed by gel electrophoresis
c. High-throughput exome sequencing
d. High-throughput genome sequencing
e. Preimplantation genetic diagnosis
Homework Answers
a. PCR amplification followed by Sanger DNA sequencing
Sanger sequencing is a very effective tool to determine the sequence of a small DNA molecule. Since the mutation causing the disease is known, it would be possible to identify individuals who have the disease by amplifying DNA and then sequencing the DNA to determine which individuals have the disease.
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