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Patient X is small in stature (just under 5 feet tall). He’s a male who has been

ID: 198901 • Letter: P

Question

Patient X is small in stature (just under 5 feet tall). He’s a male who has been found to be infertile and develops severe skin lesions after being in the sun. He also has a distinctive high pitched voice and a narrow face. There also appears to be a learning disability and he may be developing diabetes already. Although Patient X is still relatively young (age of 16), initial tests indicate he has developed several tumors in his colon and lungs.

Johnathon and April get to work and after several hours produce a preliminary diagnosis including several ways with which to test if their diagnosis was correct. A number of these methods are based on DNA sequence at specific genes Their diagnosis was in fact correct and Dr. Targaryen was extremely excited. Both Johnathon and April left the physician’s office with a renewed sense of curiosity and drive to become medical professionals. (Hint: for the sake of this case study, you may want to focus on DNA repair and replication genes).

A) The repair polymerase is the enzyme that proofreads the newly synthesized strands to ensure the accuracy of DNA replication. (TRUE/FALSE)

B) There is a single enzyme that degrades the RNA primers and lays down the corresponding DNA sequence behind it in DNA Replication. (TRUE/FALSE)

C) DNA ligase is required to seal the sugar–phosphate backbone between all the DNA fragments on the lagging strand. (TRUE/FALSE)

D) The repair polymerase does not require the aid of the sliding clamp, because it is only synthesizing DNA over very short stretches. (TRUE/FALSE)

Explanation / Answer

A) The repair polymerase is the enzyme that proofreads the newly synthesized strands to ensure the accuracy of DNA replication.

B) There is a single enzyme that degrades the RNA primers and lay down the corresponding DNA sequence behind it in DNA replication.

C) DNA ligase is required to seal the sugar–phosphate backbone between all the DNA fragments on the lagging strand.

D) The repair polymerase does not require the aid of the sliding clamp, because it is only synthesizing DNA over very short stretches.