Term
| If pyruvate dehydrogenase is inhibited, what does pyruvate get shunted to? |
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Definition
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Term
| What disease is characterized by subacute necrotizing encehpalomyelopathy caused by a defect in cytochrome C? |
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Definition
|
|
Term
| What risk to future children if a couple has one child with a congenital anomaly that follows multigenic inheritance? |
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Definition
|
|
Term
| To what do DNA repressors bind? |
|
Definition
|
|
Term
| From what two molecules is heme derived? |
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Definition
|
|
Term
| What disease is characterized by Achilles tendon xanthomas? |
|
Definition
| familial type IIa hyperlipidemia |
|
|
Term
| How long does it take Vitamin K deficiency to cause bleeding in a newborn? |
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Definition
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|
Term
| Deficiency in what vitamin causes dry conjunctiva and Bitot spots (small gray plaques on the retina)? |
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Definition
|
|
Term
| What disease leads to defects in NADPH production? |
|
Definition
| glucose-6-phosphate dehydrogenase (G6PD) deficiency |
|
|
Term
| What disease is caused by a defect in hexosaminidase A, leading to glycolipid ganglioside GM2 accumulation in the brain? |
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Definition
|
|
Term
| What vitamin is required to convert methylmalonyl-CoA to succinyl-CoA? |
|
Definition
| Vitamin B12 (cofactor of the enzyme methylmalonyl-CoA mutase) |
|
|
Term
| What is one result of glucokinase deficiency? (think eyes) |
|
Definition
|
|
Term
| What is the primary manifestation of galactose-1-phosphate uridyltransferase deficiency? |
|
Definition
| impaired renal tubular resorption, leading to death in infancy |
|
|
Term
| How long does it take for PKU to manifest in an infant? |
|
Definition
| 4-5 days (if mother followed strict diet during pregnancy) |
|
|
Term
| What is it called when 1 normal chromosome and 1 abnormal chromosome from a recipricol translocation carrier segregate together? |
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Definition
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|
Term
| What enzyme lays down an RNA primer so that DNA polymerase can have something to elongate? |
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Definition
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Term
| What autosomal recessive disease is characterized by a lack of sphingomyelinase, resulting in mental retardation, hepatosplenomegaly, and foam cells in the bone marrow? |
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Definition
|
|
Term
| What antibiotics inhibit DNA gyrase? |
|
Definition
| quinolones (e.g. ciprofloxacin) |
|
|
Term
| What alpha-glucosidase inhibitor is a treatment for type II diabetes? |
|
Definition
| acarbose - prevents the digestion of carbohydrates into simple sugars |
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|
Term
| What disease is characterized by enlarged testes and a CGG repeat? |
|
Definition
|
|
Term
| What disease is characterized by renal failure, telangectasias, skin rash, and leg pain? |
|
Definition
| Fabry's disease (X-linked) |
|
|
Term
| What cofactors are required by the enzyme homocysteine methyltransferase? |
|
Definition
|
|
Term
| What cofactor is required by delta-aminolevulinate? |
|
Definition
|
|
Term
| What cofactor is required by prolyl hydroxylase? |
|
Definition
|
|
Term
| What is trisomy 13 otherwise known as? |
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Definition
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|
Term
| What disease is characterized by polydactyly, cleft palate, cleft lip, rocker-bottom feet, and nervous system malformations? |
|
Definition
|
|
Term
| What disease is characterized by micrognathia, rocker-bottom feet, and VSD? |
|
Definition
| trisomy 18 (Edwards syndrome) |
|
|
Term
| Where does the conversion of alcohol to acetaldehyde occur? |
|
Definition
| peroxisomes and smooth ER (cytoplasm) |
|
|
Term
| What disease is characterized by a lack of glucose-6-phosphotase in the liver, and increased of lactate, cholesterol, uric acid, triglyceride, and pyruvate in the serum? |
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Definition
|
|
Term
| What disease is characterized by syndactyly of the second and third toes? |
|
Definition
| Smith-Lemli-Opitz disease (low 7-DHC reductase enzyme; treat with vegetable oil and cholesterol) |
|
|
Term
| What is southwestern blotting? |
|
Definition
| protein on the paper, exposed to labeled DNA |
|
|
Term
| What are proteins targeted to lysosomes tagged with in the ER? |
|
Definition
|
|
Term
| What disease is characterized by muscle weakness after exercise? |
|
Definition
| glycogen phosphorylase deficiency |
|
|
Term
| What are 3 causes of homocystinuria? |
|
Definition
| cystathione synthase deficiency, methionine synthase deficiency, low levels of pyroxine, folate, or Vitamin B12 |
|
|
Term
| What test is useful to determine levels of mRNA expression? |
|
Definition
|
|
Term
| How do you screen for cystic fibrosis? |
|
Definition
| PCR specific sites (after functional sweat test, probably) |
|
|
Term
| What can pyruvate kinase deficiency cause? |
|
Definition
|
|
Term
| How does methotrexate work? |
|
Definition
| competitive inhibitor of dihydrofolate reductase |
|
|
Term
| What disease is characterized by weakness in blood vessel walls, splinter hemorrhages, perifollicular hemorrhage, gum changes, and possibly a normochromic normocytic anemia? |
|
Definition
|
|
Term
| What disease is caused by mutations in mismatch repair genes leading to dinucleotide repeat instability? |
|
Definition
|
|
Term
| What should you think of when presented with hypoglycemia and hypoketosis? |
|
Definition
| probably in fatty acid oxidation, most commonly medium-chain acyl-CoA dehydrogenase deficiency |
|
|
Term
| What disease is characterized by a cell-signaling defect in fibroblast growth factor (FGF) receptor 3? |
|
Definition
|
|
Term
| On what chromosome is the APKD1 gene located? |
|
Definition
|
|
Term
| Familial adenomatous polyposis is caused by a deletion in what gene? |
|
Definition
|
|
Term
| What disease is characterized by telangiectasia, recurrent epistaxis, skin discolorations, and AVMs? |
|
Definition
| hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome) |
|
|
Term
| Hereditary spherocytosis is due to a defect in what protein? |
|
Definition
|
|
Term
| On what chromosome is the gene for Huntington's disease located? |
|
Definition
|
|
Term
| What genetic disease is characterized by caudate atrophy and decreased levels of GABA and ACh in the brain? |
|
Definition
|
|
Term
| With what gene are MEN IIa and IIb associated with? |
|
Definition
|
|
Term
| On what chromosome is the gene associated with Lisch nodules, skeletal disorders, and optic pathway gliomas found? |
|
Definition
| long arm of chromosome 17 |
|
|
Term
| What disease is associated with bilateral acoustic schwannomas and juvenille cataracts? |
|
Definition
| NF-2 (gene on chromosome 22) |
|
|
Term
| What disease is associated with hemangioblastomas of the retina/cerebellum/medulla and renal cell carcinomas? |
|
Definition
| von Hippel-Lindau disease |
|
|
Term
| Deletion of the VHL gene is associated with von Hippel-Lindau disease. On what chromosome is the VHL gene located? |
|
Definition
| chromosome 3 - leads to constitutive expression of HIF and activation of angiogenic growth factors |
|
|
Term
| What genetic disease is associated with bilateral absence of the vas deferens? |
|
Definition
|
|
Term
| On what chromosome is the CFTR gene located? |
|
Definition
|
|
Term
| What genetic microdeletion is associated with cri-du-chat syndrome? |
|
Definition
| short arm of chromosome 5 |
|
|
Term
| What disease is characterized by "elfin" facies, mental retardation, hypercalcemia, well-developed verbal skills, friendliness with strangers, and cardiovascular problems? |
|
Definition
|
|
Term
| With what microdeletion is Williams syndrome associated? |
|
Definition
|
|
Term
| With what deletion is DiGeorge syndrome associated? |
|
Definition
|
|
Term
| What disease is associated with a "starry sky" appearance? |
|
Definition
|
|
Term
| What chromosomal translocation is associated with Burkitt's lymphoma? |
|
Definition
t(8,14)
8 = cyc gene
14 = heavy chain Ig gene |
|
|
Term
| What chromosomal translocation is associated with mantle cell lymphoma? |
|
Definition
t(11,14)
CD5+, poor prognosis |
|
|
Term
| What chromosomal translocation is associated with follicular lymphoma? |
|
Definition
t(14,18)
increased Bcl-2 expression |
|
|
Term
| What is a pro-apoptotic factor? |
|
Definition
|
|
Term
| What lymphoma is caused by HTLV-1? |
|
Definition
|
|
Term
| What disease is associated with smudge cells? |
|
Definition
| small lymphocytic lymphoma or chronic lymphocytic leukemia |
|
|
Term
| What disease stains tartrate-resistant acid phosphatase (TRAP) positive? |
|
Definition
|
|
Term
| What disease is associated with Auer rods? |
|
Definition
| acute myelogenous leukemia (AML) |
|
|
Term
| How can you treat the M3 variant of AML? |
|
Definition
| all-trans retinoic acid (Vitamin A) - induces differentiation of myeloblasts |
|
|
Term
| What chromosomal translocation corresponds to the Philadelphia chromosome? |
|
Definition
|
|
Term
| What chromosomal translocation is associated with Ewing's sarcoma? |
|
Definition
|
|
Term
| On what chromosome is the WT-1 gene located? |
|
Definition
|
|
Term
| Which cyclin regulates the G1 -> S transition? |
|
Definition
|
|
Term
| What cofactor is required by both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase? |
|
Definition
|
|
Term
| What is the key enzyme of fatty acid synthesis? |
|
Definition
|
|
Term
|
Definition
| Wilms tumor, aniridia, genital anomalies, mental retardation (defect on chromosome 11) |
|
|
Term
| What disease is characterized by mental retardation, fair skin, and a musty body odor? |
|
Definition
|
|
Term
| What disease is characterized by cirrhosis, hypotonia, and failure to thrive? |
|
Definition
| Anderson disease (brancher enzyme deficiency) |
|
|
Term
| What disease is characterized by hypoglycemia, hepatomegaly, myopathy, and increased levels of cholesterol and triglycerides? |
|
Definition
| Cori disease (debrancher enzyme deficiency) |
|
|
Term
| What is the primary substrate of gluconeogenesis? |
|
Definition
|
|
Term
| What LOD score is required to establish linkage? |
|
Definition
|
|
Term
| What vitamin is important for epithelial differentiation? |
|
Definition
|
|
Term
| What is the first reaction in the HMP shunt? |
|
Definition
| glucose 6 phosphate -> 6 phosphogluconate |
|
|
Term
| What are secretory proteins tagged with? |
|
Definition
| hydrophobic NH2 terminal leader sequence that brings them to the RER |
|
|
Term
| What can stimulate glucose uptake via GLUT4 in muscle without any exogenous influence? |
|
Definition
|
|
Term
| What disease is characterized by a lack of ApoB, decreased triglycerides, and decreased serum cholesterol levels? |
|
Definition
|
|
Term
| What disease is caused by a deltion of 15q11-13 in the father's chromosome? |
|
Definition
|
|
Term
| What is a risk factor for CVD disease and DVT? |
|
Definition
| high levels of homocysteine |
|
|
Term
| What is another name for glucose-6-phosphatase deficiency? |
|
Definition
|
|
Term
| What does cyanide inhibit? |
|
Definition
|
|
Term
| What disease is associated with situs inversus? |
|
Definition
|
|
Term
| What scavenger receptor do steroidgenic tissues have to help them take up cholesterol from HDL? |
|
Definition
|
|
Term
| What are characteristics of an autosomal dominant pedigree? |
|
Definition
| male to male transmission and all affected individuals have an affected parent |
|
|
Term
| On what chromosome is BRCA-1 located? |
|
Definition
|
|
Term
| On what chromosome is BRCA-2 located? |
|
Definition
|
|
Term
| What is the disease with a germline mutation in p53? |
|
Definition
|
|
Term
| What gene is most often amplified in pediatric neuroblastoma? |
|
Definition
|
|
Term
| What type of cancer does aflatoxin B1 cause? |
|
Definition
|
|
Term
| What type of cancer is chromium and nickel most likely to cause? |
|
Definition
|
|
Term
| What genetic syndrome involves a defect to repair of DNA after UV exposure? |
|
Definition
|
|
Term
| What genetic syndrome is characterized by a defect in DNA cross-linking repair with a sensitivity to nitrogen mustards? |
|
Definition
|
|
Term
| What is associated with elevated CEA levels? |
|
Definition
|
|
Term
| What gene product promotes the degradation of beta-catenin, which normally translocates to the nucleus to induce cellular proliferation? |
|
Definition
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