Flashcards in Biochemistry Deck (372)
What five chromosomes can undergo a robertsonian translocation?
13, 14, 15, 21 and 22
What two structures produce α-FP in the fetus?
yolk sac and liver
What four specific types of tumors can possess elevated α-FP?
1. endodermal sinus/yolk sac
3. hepatocellular carcinoma
What are two physical characteristics of a patient with Edwards Syndrome?
low set ears
What are three physical characteristics of Patau Syndrome?
What is an acrocentric chromosome?
chromosome with centromeres near their ends
What chromosomal aberration causes Cri-du-chat?
microdeletion of 5p
What heart abnormality can present in a patient with Cri-du-chat?
What chromosome is effected by Williams Syndrome? Long or short arm?
What electrolyte deficiency can a patient with Williams Syndrome present with? Why?
increased sensitivity to Vitamin D
What is the karyotype of a patient with DiGeorge Syndrome? What is the mnemonic?
What does the 'C' of CATCH22 stand for?
What does the 'A' of CATCH22 stand for?
What does the 'T' of CATCH22 stand for?
What does the second 'C' of CATCH22 stand for?
What does the 'H' of CATCH22 stand for?
What pharyngeal arches are defective in DiGeorges Syndrome?
3rd and 4th
What is the function of H1 histone?
linker between nucleosomes
What two DNA bases are capable of being methylated?
adenine and cytosine
How many rings do purines have? Pyrimidines?
purines = two
pyrimidines = one
What two amino acids are required for pyrimidine synthesis?
Aspartate and glutamine
What amino acid is required for CPS I?
What is the first base the leflunomide will inhibit the synthesis?
What two enzymes make up UMP Synthase?
Orotate phosphoribosyl transferase
What are the three MOAs of ribavirin?
1. inhibits GMP/GTP formation
2. blocks mRNA capping
3. blocks RNA-dependent RNA polymerase
What rxn is catalyzed by ribonucleotide reductase?
UDP tp dUDP
Thymidylate synthase will inhibit the formation of what nucleotide?
What reaction does APRT catalyze?
adenine to AMP
What are the two rxn's catalyzed by Xanthine Oxidase?
1. Hypoxanthine to Xanthine
2. Xanthine to uric acid