(a) Name the defective enzyme (you will have to do some detective work). (b) Write out the reaction catalyzed by the defective enzyme (use structural formulas). What is the stoichiometry? (c) Assume that you have identified the defective enzyme. Assume that you have a polyclonal antibody to that enzyme from normal persons. Using the antibody, you find no evidence that the enzyme is expressed in liver cells of your patient; in a liver cell from a normal person, however, the antibody would show that the enzyme was expressed. Assume that you know the sequence of the gene encoding for the enzyme in a normal person and also the sequence of the gene in your patient. Here is a portion of the gene sequence: Codon no. Normal person: Your patient: 309 310 311 312 GCC TCT CTG GGT GCC TCT CCG GGT Propose as to why the observed change (mutation) could lead to the missing enzyme.
(a) Name the defective enzyme (you will have to do some detective work). (b) Write out the reaction catalyzed by the defective enzyme (use structural formulas). What is the stoichiometry? (c) Assume that you have identified the defective enzyme. Assume that you have a polyclonal antibody to that enzyme from normal persons. Using the antibody, you find no evidence that the enzyme is expressed in liver cells of your patient; in a liver cell from a normal person, however, the antibody would show that the enzyme was expressed. Assume that you know the sequence of the gene encoding for the enzyme in a normal person and also the sequence of the gene in your patient. Here is a portion of the gene sequence: Codon no. Normal person: Your patient: 309 310 311 312 GCC TCT CTG GGT GCC TCT CCG GGT Propose as to why the observed change (mutation) could lead to the missing enzyme.
Chapter8: Forms Of Drugs And How They Act
Section: Chapter Questions
Problem 27RQ
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Transcribed Image Text:6. CASE STUDY. Your patient is a 2-week old child with elevated levels of phenylpyruvic acid, phenyllactic
acid, and phenylacetic acid in his urine. He has elevated levels of phenylalanine in his blood. You do a
liver biopsy and prepare a cell-free extract from the liver cells. To this you add tetrahydrobiopterin and
radioactive phenylalanine and find that the production of radioactive tyrosine is only 1% of that which you
would expect in the case of a normal person.
(a) Name the defective enzyme (you will have to do some detective work).
(b) Write out the reaction catalyzed by the defective enzyme (use structural formulas). What is the
stoichiometry?
(c) Assume that you have identified the defective enzyme. Assume that you have a polyclonal antibody to
that enzyme from normal persons. Using the antibody, you find no evidence that the enzyme is
expressed in liver cells of your patient; in a liver cell from a normal person, however, the antibody would
show that the enzyme was expressed. Assume that you know the sequence of the gene encoding for
the enzyme in a normal person and also the sequence of the gene in your patient. Here is a portion of
the gene sequence:
Codon no.
Normal person:
Your patient:
Propose as to why the observed change (mutation) could lead to the missing enzyme.
309 310 311 312
GCC TCT CTG GGT
GCC TCT CCG GGT
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