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Flashcards in Biochemistry Deck (372)
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181

What five chromosomes can undergo a robertsonian translocation?

13, 14, 15, 21 and 22

182

What two structures produce α-FP in the fetus?

yolk sac and liver

183

What four specific types of tumors can possess elevated α-FP?

1. endodermal sinus/yolk sac

2. hepatoblastoma

3. hepatocellular carcinoma

4. Neuroblastoma

184

What are two physical characteristics of a patient with Edwards Syndrome?

rocker-bottom feet

low set ears

185

What are three physical characteristics of Patau Syndrome?

cleft liP/Palate

holoProsencephaly

polydactyly

186

What is an acrocentric chromosome?

chromosome with centromeres near their ends

187

What chromosomal aberration causes Cri-du-chat?

microdeletion of 5p

188

What heart abnormality can present in a patient with Cri-du-chat?

VSD

189

What chromosome is effected by Williams Syndrome? Long or short arm?

7

long

190

What electrolyte deficiency can a patient with Williams Syndrome present with? Why?

hypercalcemia

increased sensitivity to Vitamin D

191

What is the karyotype of a patient with DiGeorge Syndrome? What is the mnemonic?

22q11

CATCH22

192

What does the 'C' of CATCH22 stand for?

cleft palate

193

What does the 'A' of CATCH22 stand for?

abnormal facies

194

What does the 'T' of CATCH22 stand for?

thymic aplasia

195

What does the second 'C' of CATCH22 stand for?

cardiac defects

196

What does the 'H' of CATCH22 stand for?

Hypocalcemia

197

What pharyngeal arches are defective in DiGeorges Syndrome?

3rd and 4th

198

What is the function of H1 histone?

linker between nucleosomes

199

What two DNA bases are capable of being methylated?

adenine and cytosine

200

How many rings do purines have? Pyrimidines?

purines = two

pyrimidines = one

201

What two amino acids are required for pyrimidine synthesis?

Aspartate and glutamine

202

What amino acid is required for CPS I?

glutamine

203

What is the first base the leflunomide will inhibit the synthesis?

UMP

204

What two enzymes make up UMP Synthase?

Orotate phosphoribosyl transferase

O5P Decarboxylase

205

What are the three MOAs of ribavirin?

1. inhibits GMP/GTP formation

2. blocks mRNA capping

3. blocks RNA-dependent RNA polymerase

206

What rxn is catalyzed by ribonucleotide reductase?

UDP tp dUDP

207

Thymidylate synthase will inhibit the formation of what nucleotide?

dTMP

208

What reaction does APRT catalyze?

adenine to AMP

209

What are the two rxn's catalyzed by Xanthine Oxidase?

1. Hypoxanthine to Xanthine

2. Xanthine to uric acid

210

What does the H of HGPRT stand for? (Mnemonic)

Hyperuricemia