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70 Cards in this Set
- Front
- Back
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What is the toxicity limit of ammonia?
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30-60umol/L
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What aa form pyruvate?
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GACTS
Gly--> Ser--> Pyruvate SGT Sargeant= Serine, glycine, threonine are related |
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What are teh reactants of Heme biosynthesis?
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Succinyl CoA + Glycine--> ALA
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What is the daily requirement of folate?
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0.400 mg
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What are the two sources of NADPH needed for FA synthesis
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Malic Enzyme (malate-->pyruvate)
HMP/PEP oxidative branch |
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Where is the phosphopantoteinate group on the FA Synthase complex?
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ACP segment
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Whre is the cysteine residue on teh FA synthase complex?
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Ketoacyl synthase segment
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What inhibits Carnitine Palmitoyl Transferase I?
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Malonyl CoA, prevents futile cycling.
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How is biotin attached to Acetyl CoA carboxylase?
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Prostethic group through lysine residue.
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Where does the incoming malonyl CoA attach to FA Synthase?
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Phosphopantotheinate group. The growing chain moved to cysteine.
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Where does FA synthesis elongation occur?
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ER
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Where does VLDL assembly occur?
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Golgi
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Where does TAG synthesis occur?
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smooth ER liver
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What is the difference between FA elongation and FA synthesis
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The growing chain is attached to Coenzyme A instead of the phoshopantheinate residue
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What are the requirements of FA Desaturase? and where does it occur?
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Ocurrs in the ER and requires O2, Cytochrom B5, NADH
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omega 6 can form which FA?
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arachodonic--> eicosanoids (20:4)
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Omega 3 can form which FA?
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eiscosapentaenoic acid (20:5)
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How is peroxisomal oxidation different from regular beta oxidation?
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It involves really long FA's and doesn't require Carnitine to translocate.
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What are the major substrates of Peroxisomal oxidation?
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LCBFA's: Pristinic and Phytanic acid
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Where does omega oxidation occur?
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occurs in ER
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What are the cofactors for omega-oxidaiton?
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Cytochrome P450, O2, NADPH, Ultimately form a dicarboxylic acid from an alcohol.
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What is teh function of peroxisomal and omega oxidation?
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To get rid of FA intermediates and convert into substrates that can undergo beta oxidaiton since Free fatty acids are toxic in circulation. Therefore these reactions are not regulated.
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What are the desired qualities of stem cells?
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Pluripotent, Genetically stable, long-lived and capable of self-renewal
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What are the advantages of adult stem cells?
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don't require destruction of embryo, autologous, plasticity, don't form tumors
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What is the treatment for porphyrias?
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avoidance of barbituates
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What is the treatment of urea cycle disorders?
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diversion of sodium benzoate
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How does TPMT affect drug efficacy/toxicity?
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SNPs in 2, 3A, 3C affect efficacy: low metabolizes, so 6-MP could be inadvertently administered in toxic doses
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What enzymes is the major drug metabolizer?
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CY2D6, CYP2D19
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What are the importatn facts about the CF gene?
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27 exons, 250kb, encodes the CFTR chloride channel. Most common in ashkenazi jew population
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What is the inheritance pattern of BRCA1/2 genes?
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autosomal dominant
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What is teh relative risk of BRCA1/2 carriers to cancer?
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50-85%
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What is the sporadic rate of breast cancer?
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75%
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What is the relationship of economy class syndrome and Factor V liden?
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SNP in Factor 5 leiden resutls in prolonged clotting, can cause DVT. Women under BCPs are particularly at risk.
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What is the disease etiology of Fragile X?
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triple nt repeats (200+) is disease manifestation. These repeats are CGG (really stable), PCR can't denature so you see no band. Need to cross check with Southern Blot.
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What is the disease etiology of Huntingtons?
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GAG 40+
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What is CODIS?
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combined DNA index system. database for DNA of criminals and sex offenders
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Why are mitochondrial polymorphisms particularly useful for geneticists?
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They are many copies compared to nuclear genome. The pattern of inheritance is down from mom.
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Which prenatal diagnostic procedures are not done today?
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Fetal blood sampling, Fetal tissue biopsy (high risk of spontaneous abortion)
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What is the genetic defect in Turner's Syndrome?
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75% is due to missing paternal contribution.
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Why do a subtelomere FISH on Wolf-hirrshorn syndrome?
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unbalanced translocation (4p-deltion)
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How could we detect uniparental disomy?
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use a methylation test as well as FISH. since FISH can't detect maternal vs. paternal contribution
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What is CGH (comparative genomic hybridization)?
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compare patient (Green) with control (Red). Equal concentrations. If deltion, then see RE.
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What are the limitations of CGH?
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Deletions too small can't be detected (SNPs, point mutations, mitochondrial deletions); any change that doesn't alter concentraiton won't be detected (balanced translocations, inversions, triploidy, mosaicism)
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What is the relative percentage of known vs. unknown causes of congential abnormalities?
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Known 40%, Unknown 60%
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Which have a higher recurrence risk? Intrinsic or Extrinsic factors?
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Intrinsic (malformations) due to lack of necessary vitamins (ie.Folic acid)
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What are the extrinsic factors?
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deformations (physical interruption), disruptions (teratogens)
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Renal agenesis can cause?
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oligohydramnios--> many other things, potter sequence, facial compression, rocker bottom feet.
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What are some extrinsic factors that can cause disruptions?
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retinoic acid, thalidimide
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How folate much do american women consume, was is the recommended intake?
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140ug, recommended is 400ug. Pregnant women who already had a child with neural tube defect should take 4000ug or 4 mg.
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What are teh effects of retinoid acid?
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Ear, aorta, brain defects
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What are teh effects of Tobacco?
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Growth retardation, miscarriage
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What are teh effects of alcohol on babies?
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mental retardation, microcephaly, heart defects, cleft lip
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What is the risk reduction with folic acid?
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70% if taken prior to conception
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See Lip pits, cleft lip, cleft palate, mom also had disease. What disease is this?
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Van der Wolude. Autosomal Dominant
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What is a dysplasia?
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malformations affecting the same tissue type
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What are characteristics of X-linked ectodermal dysplasia?
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females (thin hair, poor teeth)
males (missing, needle teeth, dry skin) |
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Achrondroplasia?
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trident hand, most common bone dysplasia, FGFR3 mutation, advanced paternal age.
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Thanatophoric dysplasia?
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Lethal bone dysplasia, telephone reciever femurs, trident hands, rhizomelia, stellate illiac bones
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Osteogenesis imperfecta II
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Lethal defect in collagen, several intrauterine fractures, bent long bones
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What is the VATER associaiton
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V: vertebral
A: anus T:trachea E: esophagus R: radial/renal |
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What is a sequence?
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A primary defect causes a secondary defect, a cascade effect.
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What percentage of cancers are heritable germ line cancers?
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10%
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What percentage of breast cancers are sporadic vs. hereditary
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Sporadic 75%, hereditary 10%
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What is teh BRCA1/2 gene?
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Tumor suppressor genes on Chr 17,13, the proteins have a role in genomic stability
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What is the difference between BRCA1 and BRCA2
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BRCA1 higher risk for ovarian cancer, , males have breast cancer with BRCA2, increased risk for prancreatic and prostate cancer, and has a later onset.
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What is HNPCC?
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cancer caused by deletion in MMR genes.
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what is epCAM and MMR relation?
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epCAM is upstream of MSH2. Deletion of MSH2 causes silence of MSH2 gene and can cause Lynch syndrome.
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What percentage of HNPCC is due to deletion in MSH1 and MSH2?
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85-90%
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If you are a carrier for MSH1/2 deletions, when should your colonoscopy exams start?
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at age 20-25
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What are seen in patients with FAP?
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osteomas, desmoid tumors, CHRPE (retina)
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