Term
| How many times does DNA loop around histone octamers to form the nucleosome "bead"? |
|
Definition
|
|
Term
| What amino acids primarily compose the octamer subunits of histone proteins? |
|
Definition
|
|
Term
| What are the nucleosome core histones? |
|
Definition
|
|
Term
| Which DNA bases are methylated to allow mismatch repair enzymes to distinguish between old and new strands? |
|
Definition
|
|
Term
| Which nucleotide basse has a ketone? |
|
Definition
|
|
Term
| What nucleotide base has a methyl? |
|
Definition
|
|
Term
| Name the amino acids necessary for purine synthesis? |
|
Definition
| glycine, aspartate and glutamine |
|
|
Term
| Describe the bond that links nucleosides? |
|
Definition
| 3'-5' phosphodiester bonds |
|
|
Term
| Describe the process of de novo purine synthesis? |
|
Definition
| start with sugar + phosphate then add base |
|
|
Term
| Describe the process of pyrimidine syntehsis? |
|
Definition
| make temporary base (orotic acid), add sugar + phosphate (PRPP), modify base |
|
|
Term
| Which is synthesized first, ribonucleotides or deoxyribonucleotides? |
|
Definition
| ribonucleotides (converted to deoxyribonucleotides by ribonucleotide reductase) |
|
|
Term
| What two metabolic pathways is carbamoyl pohsphate involved in? |
|
Definition
| de novo pyrimidine synthesis and the urea cycle |
|
|
Term
| ornithine transcarbamylase deficiency leads to an accumulation of what? |
|
Definition
| carbamoyl phosphate which is then converted into orotic acid |
|
|
Term
| What drug inhibits ribonucleotide reductase? |
|
Definition
|
|
Term
| What is the MOA of 6-mercaptopurine? |
|
Definition
| blocks de novo purine synthesis |
|
|
Term
| What is the MOA of 5-flourouracil? |
|
Definition
| inhibits thymidylate synthase (decrease dTMP) |
|
|
Term
| What is the deficiency of orotic aciduria? |
|
Definition
| inability to convert orotic acid to UMP due to defect in either orotic acid phosphoribosyltransferase or orotidine 5'phosphate decarboxylase |
|
|
Term
| What are the findings associated with orotic acidemia? |
|
Definition
| increased orotic acid in urine, megaloblastic anemia that does not improve with administration of folate or B12, failure to thrive |
|
|
Term
| How do you differentiate between orotic aciduria and OTC deficiency with labs? |
|
Definition
| both will have increased orotic acid; OTC deficiency will also have hyperammonemia |
|
|
Term
| How do you treat orotic aciduria? |
|
Definition
| oral uridine administration |
|
|
Term
| How does adenosine deaminsae deficiency cause SCID? |
|
Definition
| excess ATP dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase which prevents DNA synthesis and thus decreases lymphocyte count |
|
|
Term
| What was the first disease to be treated by experimental human gene therapy? |
|
Definition
|
|
Term
| What is teh deficiency in Lesch-Nyhan syndrome? |
|
Definition
| hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency |
|
|
Term
| How is Lesch Nyhan inherited? |
|
Definition
|
|
Term
| What are the symptoms of Lesh Nyhan? |
|
Definition
| retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis |
|
|
Term
| What does it mean to say the genetic code is unambiguous? |
|
Definition
| each codone specifies only 1 amino acid |
|
|
Term
| What does it mean to say the genetic code is degenerate or redundant? |
|
Definition
| more than 1 codon may code for the same amino acid |
|
|
Term
| What does it mean to say the genetic code is "commaless" or "nonoverlapping"? |
|
Definition
| read from a fixed starting point as a continuous sequence of bases |
|
|
Term
| Name an exception to the rule that the sequence of bases in mRNA is "nonoverlaapping" |
|
Definition
|
|
Term
| Which amino acids are only coded for by 1 codon? |
|
Definition
| methionine (AUG), and tryptophan (UCG) |
|
|
Term
| What does it mean to say the genetic code is "universal"? |
|
Definition
| conserved throughout evolution |
|
|
Term
| What type of mutation results in an early stop codon? |
|
Definition
|
|
Term
| What is a missense mutation? |
|
Definition
| changed aa (convservative-new aa is similar in chemical structure |
|
|
Term
| Where does eukaryotic replication begin? |
|
Definition
| consensus sequence of base pairs |
|
|
Term
| What is the replication fork? |
|
Definition
| Y shaped region along DNA template where leading and lagging strands are syntehsized |
|
|
Term
| What prevents the ssDNA from reannealing after helicase has broken the hydrogen bonds? |
|
Definition
| single-stranded binding proteins |
|
|
Term
| What is the MOA of flouroquinolones? |
|
Definition
| inhibit DNA gyrase (prokaryotic topoisomerase II) |
|
|
Term
|
Definition
| makes an RNA primer on which DNA polymerase III can initiate a replication |
|
|
Term
| T/F DNA polymerase III is found in eukarotes. |
|
Definition
|
|
Term
| What is the function of DNA polymerase III? |
|
Definition
| elongates leading strand by adding deoxynucleotides to the 3' end; elongates lagging strand until it reaches primer of preceding fragment; 3' to 5' exonuclease activity profreads each added nucleotide |
|
|
Term
| What is the function of DNA polymerase 1? |
|
Definition
| prokaryotic only; degrades RNA primer and fills in the gap with DNA (DNA polymerase 1 excises RNA primer with 5' to 3' exonuclease) |
|
|
Term
| What is the function of telomerase? |
|
Definition
| enzyme adds DNA to the 3' ends of chromosomes to avoid loss of genetic material with every duplication |
|
|
Term
| What links the okazaki fragments? |
|
Definition
|
|
Term
| What process can not take place in patients who have xeroderma pigmentosum? |
|
Definition
| specific endonucleases release thymidine dimers created by UV light exposure and DNA polymerase and ligase fill and reseal the gap |
|
|
Term
| What enzyme is used by prokaryotes to excise thymidine dimers? |
|
Definition
|
|
Term
| What enzyme is deficient in xeroderma pigmentosa? |
|
Definition
|
|
Term
| By what process is DNA repaired if there is spontaneous/toxic deamination/ |
|
Definition
|
|
Term
| How is base excision repair preformed? |
|
Definition
| specific glycosylases recognize and remove damaged bases; Ap endonuclease cuts DNA at apyrimidinic site; empty sugar is removed and the gap is filled and resealed |
|
|
Term
|
Definition
| when unmethylated, newly synthesized string is recognized, mismatched nucleitides are removed and the gap is filled and resealed |
|
|
Term
| Mismatch repair is mutated in what disease? |
|
Definition
| hereditary nonpolyposis colorectal cancer |
|
|
Term
| What is mutated in ataxia telangiectasia? |
|
Definition
| nonhomologous end joining |
|
|
Term
| What type of DNA repair repairs both strands of DNA? |
|
Definition
| nonhomologous end joining |
|
|
Term
| Where does the energy for DNA and RNA synthesis come from? |
|
Definition
| triphosphate on the 5' end of the incoming nucleotide |
|
|
Term
| In what direction is mRNA read? |
|
Definition
|
|
Term
| In what direction are amino acid synthesized? |
|
Definition
|
|
Term
| Drugs blocking DNA replication often have a modified ____, preventing addition of the next nuclotide (chain termination). |
|
Definition
|
|
Term
| What is the most abundant type of RNA? |
|
Definition
|
|
Term
| What is the longest type of RNA? |
|
Definition
|
|
Term
| What is the smallest type of RNA? |
|
Definition
|
|
Term
| What is the mRNA start codon? |
|
Definition
|
|
Term
|
Definition
| methionine in eukaryotes; formyl methionine in prokaryotes |
|
|
Term
| What are the stop codons? |
|
Definition
|
|
Term
| Promoter sequences are rich in what nucleotides? |
|
Definition
|
|
Term
| What's another name for the TATA box? |
|
Definition
|
|
Term
| Where are promoter sequences located? |
|
Definition
| upstream of gene locus (TATA is at -25; CAAT is at -70) |
|
|
Term
| What binds to teh promoter sequence? |
|
Definition
| RNA polymerase and multiople other transcription factors to initiate transcription |
|
|
Term
| What types of sequences that regulate gene transcipriton can be found close to, far from, or even within the gene whose expression it regulates? |
|
Definition
|
|
Term
| What do you call the site where negative regulators (repressors) bind? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What is the MOA of alpha amanitin? |
|
Definition
| inhibits RNA polymerase II causing liver failure |
|
|
Term
| What is the name of the poison found in death cap mushrooms? |
|
Definition
|
|
Term
| Which RNA polymerase opens DNA at the promoter site? |
|
Definition
|
|
Term
| Does RNA polymerase have proofreading functions? |
|
Definition
|
|
Term
| Describe the difference between eukaryotic and prokaryotic RNA polymerase. |
|
Definition
| there are three different types of RNA polymerase that make the different kinds of RNA in eukaryotes; prokaryotes have 1 RNA pol that makes all types of RNA |
|
|
Term
| The initial transcript by RNA pol II is called... |
|
Definition
|
|
Term
| How is transcription terminated? |
|
Definition
| rho dependent (uses Rho factor, an ATPase), or rho independent (GC rich reagion forms a hairpin loop and bumps off RNA pol at a weak AT rich region) |
|
|
Term
| What is the polyadenylation signal?? |
|
Definition
|
|
Term
|
Definition
| G attacks an A which forms UGA and then breaks off at the OH group and the two exons join together |
|
|
Term
| What effect does glucose have on the lac operon? |
|
Definition
| glucose inhibits the activated by decreasing cAMP (cAMP binds to the CAP which can then bind to the CAP binding site and allow transcription to take place) |
|
|
Term
| What is the activator for the lac operon? |
|
Definition
| CAP (catabolite activator protein) which binds with cAMP in order to bind to the CAP binding site and help RNA polymerase to bind to the promoter |
|
|
Term
| What effect does lactose have on the lac operon? |
|
Definition
| inhibits the repressor protein by binding to it and not allowing it to bind to the lacl sequence upstream of the lac genes |
|
|
Term
|
Definition
|
|
Term
| What do the lac genes encode? |
|
Definition
| beta galactosidase which breaks down lactose into glucose and galactose |
|
|
Term
| What do you call it when different exons can be combined by alternative splicing to make unique proteins in different tissues? |
|
Definition
|
|
Term
| Where is the anticodon end of a tRNA? |
|
Definition
| opposite the 3' aminoacyl end |
|
|
Term
| What is located at the three prime end of all tRNAs both eukaryotic and prokaryotic? |
|
Definition
| CCA at the 3' endalong with a high percentage of chemicall modified bases |
|
|
Term
| What enzyme puts an amino acid on tRNA? |
|
Definition
| aminoacyl-tRNA synthetase |
|
|
Term
| T/F Aminoacyl-tRNA synthetase has proofreading ability. |
|
Definition
| true; scrutinizes aa both before and after covalently binding aa to tRNA |
|
|
Term
| What is the MOA of tetracyclines? |
|
Definition
| bind the thirty S subunit, preveting attachment of aminoacyl-tRNA |
|
|
Term
| What are the subunits of the prokaryotic vs eukaryotic subunits? |
|
Definition
prokaryotic (30 + 50 = 70)
eukaryotes (40 + 60 = 80) |
|
|
Term
| What is the energy source for tRNA charging? |
|
Definition
|
|
Term
| Describe how initiation occurs? |
|
Definition
| activated by GTP hydrolysis, initiation factors (eIFs) help assemble the 40S ribosomal subunit with the initiator tRNA and are released when the mRNA and the ribosomal subunit assemble with the complex |
|
|
Term
| What are the different tRNA sites of the ribosome? |
|
Definition
| a= incoming aminoacyl-tRNA; p= peptide chain; e= holds empty tRNA as it exits |
|
|
Term
| What is the MOA of aminoglycosides/ |
|
Definition
| bind the thirty S subunit and inhibit formation of the initiation complex and cause mimsreading of mRNA |
|
|
Term
| How does translation termination occur? |
|
Definition
| stop codon is recognized by release factor and complete protein is released from ribosome |
|
|
Term
| What is the MOA of chloramphenicol? |
|
Definition
| inhibits 50S peptidyltransferase |
|
|
Term
| What is the MOA of streptogramins? |
|
Definition
| inhibits 50S peptidyltransferase |
|
|
Term
| What is the MOA of macrolides? |
|
Definition
| block translocation by binding the 23 subunit of 50S |
|
|
Term
| What is the MOA of clindamycin? |
|
Definition
| block peptide bond formation |
|
|
Term
| what is the MOA of linezolid? |
|
Definition
| bind to 23 subunit of 50S |
|
|
Term
| What are the elongation factors in eukaryotes versus prokaryotes? |
|
Definition
|
|
Term
| What is the shortest phase of the cell cycle? |
|
Definition
|
|
Term
| Which is cell cycle specific: cyclins or CDKs? |
|
Definition
| cyclins are phase specific while CDKs are constitutive and inactive |
|
|
Term
| What is a "permanent" cell type? |
|
Definition
| remain in G0, regenerate from stem cells; ex= neurons, skeletal and cardiac muscl, RBCs |
|
|
Term
| What are stable/quiescent cells? |
|
Definition
| enter G1 from G0 when stimulated (hepatocytes, lymphocytes) |
|
|
Term
|
Definition
| never go to G0; divide rapidly with a short G1 (bone marrow, gut epithelium, skin, hair follicles) |
|
|
Term
| Name two cell types that are rich in RER? |
|
Definition
| plasma cells; globlet cells |
|
|
Term
| What kinds of post translational modifications can occur in the RER? |
|
Definition
| n-linked oligosaccharide addition |
|
|
Term
| What is RER in neurons called? |
|
Definition
|
|
Term
| Where are organellar proteins made? |
|
Definition
|
|
Term
| What types of cells are rich in SER? |
|
Definition
| liver hepatocytes (detox of drugs and poisons) and adrenal cortex (site of steroid synthesis) |
|
|
Term
| What does the golgi do to modify proteins? |
|
Definition
| modifies N-oligosaccharides on asparagine; adds O-oligosaccharides on serine and threonine; adds mannose-6-phosphate for trafficking to lysosomes |
|
|
Term
|
Definition
| vesicular trafficking protein that moves retrograde (golgi --> ER) |
|
|
Term
|
Definition
| vesicular trafficking protein that is responsible for anterograde movement (RER --> cisGolgi) |
|
|
Term
| What is trans versus cis golgi? |
|
Definition
| trans is on the side of the plasma membrane; cis is on the side of the ER and nucleus |
|
|
Term
| What is the defect in I cell disease? |
|
Definition
| lysosomal storgae disorder d/t failure of addition of mannose 6 phosphate to lysosome proteins (enzymes are secreted outside the cell instead of being targetted to the lysosome) |
|
|
Term
| What are the symptoms of I cell disease? |
|
Definition
| coarse facial features; clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes |
|
|
Term
| What is the prognosis of I cell disease? |
|
Definition
|
|
Term
| What is the function of a peroxisome? |
|
Definition
| membrane enclosed organelle involved in catabolism of very long chain fatty acids and amino acids |
|
|
Term
|
Definition
| barrel shaped protein complex that degrades damaged or unnecessary proteins tagged for destruction with ubiquitin |
|
|
Term
| Describe the structure of a microtubule? |
|
Definition
| cylindrical structure composed of a helical array of polymerized dimers of alpha and beta tubulin (each dimer has 2 GTp bound) |
|
|
Term
| What are the drugs that act on microtubules? |
|
Definition
| mebendazole/thiabendazole, griseofulvin, vincristine, vinblastine, paclitaxel, colchicine |
|
|
Term
| Name a disease caused by a microtubule polymerization defect? |
|
Definition
|
|
Term
| What are the symptoms of chediak higashi syndrome? |
|
Definition
| recurrent pyogenic infections, partial albinism, and peripheral neuropathy |
|
|
Term
| What is the ATPase located around cilia? |
|
Definition
| axonemal dyneine (links peripheral nine doublets and causes bending of cilium by differential sliding of doublets) |
|
|
Term
| What cytoskeletal element is responsible for microvilli? |
|
Definition
|
|
Term
| What cytoskeletal element is associated with cytokinesis? |
|
Definition
|
|
Term
| What cytoskeletal element is responsible for adherens junctions? |
|
Definition
|
|
Term
| What cytoskeletal element is associated for cell movement? |
|
Definition
|
|
Term
| What cytoskeletal muscle makes up cilia and flagella? |
|
Definition
|
|
Term
| What cytoskeletal elements are responsible for axonal trafficking? |
|
Definition
|
|
Term
| What cytoskeletal elements are associated with centrioles? |
|
Definition
|
|
Term
| What is the function of intermediate filaments? |
|
Definition
|
|
Term
| What are the different types of intermediate filaments? |
|
Definition
| vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins, neurofilaments |
|
|
Term
| T/F There are more phospholipids than cholesterol in the plasma membrane? |
|
Definition
|
|
Term
| What composes the plasma membrane? |
|
Definition
| phospholipids, cholesterol, sphingolipids, glycolipids, and proteins |
|
|
Term
| What effect does high cholesterol have on plasma membrane? |
|
Definition
| increases melting temperature; decrease fluidity |
|
|
Term
| What effect does long saturated fatty acid content ahve on cell membrane? |
|
Definition
| increases melting temperature; decreases fluidity |
|
|
Term
| A vimentin stain stains... |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| In order to pump 3 Na out and 2 K in, the Na/K ATPase must be... |
|
Definition
| phosphorylated by ATP to allow Na out; depohsphorylated to bring K in |
|
|
Term
| What is the most abundant protein in the human body? |
|
Definition
|
|
Term
| Where is type I cartillage found? |
|
Definition
| bone, skin, tendon, dentin, fascia, cornea, late wound repair |
|
|
Term
| Where is type II cartilage found? |
|
Definition
| vitreous body, cartilage, nucleus pulposus |
|
|
Term
| Where is type III collagen found? |
|
Definition
| reticulin= skin, blood vessels, uterus, fetal tissue, granulation tissue |
|
|
Term
| Where is type IV collagen found? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What is the amino acid sequence characteristic of collagen? |
|
Definition
| Gly-X-Y (X and Y can be proline, hydroxyproline, or hydroxylysine) |
|
|
Term
| Where does hydroxylation of proline and lysine residues of collagen molecule take place? |
|
Definition
|
|
Term
| Where does glycosylation of collagen take place? |
|
Definition
|
|
Term
| How is procollagen formed? |
|
Definition
| hydrogen and disulfide bonds (tripple helix of three collagen alpha chains) |
|
|
Term
| Where does the formation of procollagen take place? |
|
Definition
|
|
Term
| What form of collagen is exocytosed by the fibroblast? |
|
Definition
|
|
Term
| What happens to procollagen once it leaves the fibroblast? |
|
Definition
| cleavage of terminal regions of procollagen transforms it into insoluble tropocollagen; reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine cross linkage (by lysyl oxidase) to make collagen fibrils |
|
|
Term
| What is the final form of collagen called? |
|
Definition
|
|
Term
| What are the symptoms of osteogenesis imperfecta? |
|
Definition
| multiple fractures; blue sclerae, hearing loss, dental imperfections |
|
|
Term
| What type of OI is fatal in utero or in the neonatal period? |
|
Definition
|
|
Term
| What is the incidence of OI? |
|
Definition
|
|
Term
| What is the pathogenesis of ehlers danlos syndrome? |
|
Definition
| type III collagen is most frequently affected |
|
|
Term
| What are the symptoms of Ehlers Danlos? |
|
Definition
| hyperextensible joints, stretchy skin, tendency to bleed, joint dislocation, berry aneurysms, organ rupture |
|
|
Term
| What is the inheritance pattern of ehlers danlos? |
|
Definition
| there are six types and they can be either autosomal dominant or recessive |
|
|
Term
| What is the inheritance pattern of alport syndrome? |
|
Definition
| most common form is x linked |
|
|
Term
| What are the symptoms of alport syndrome? |
|
Definition
| progressive hereditary nephritis and deafness; may be associated with ocular disturbances |
|
|
Term
| Where is elastin particularly important? |
|
Definition
| lungs, large arteries, elastic ligaments, vocal cords, ligamenta flava |
|
|
Term
| Elastin is rich in which amino acids? |
|
Definition
| proline and glycine, nonglycosylated forms |
|
|
Term
| What is the function of fibrillin? |
|
Definition
| provide scaffolding for tropoelastin |
|
|
Term
|
Definition
|
|
Term
| What causes the wrinkles of aging? |
|
Definition
| decreased collagen and elastin production |
|
|
Term
|
Definition
| DNA is electrohporesed on a gel and then transferred to a filter; filter is soaked in a denaturant and subsequently exposed to a radiolabeled DNA probe that recognizes and anneals to its complementary strand; the resulting double stranded labeled piece of DNA is visualized when the filter is exposted to film |
|
|
Term
| What is a southern blot for RNA called? |
|
Definition
|
|
Term
|
Definition
| sample protein is separated via gell electrophoresis and transferred to a filter; labeled antibody is used to bind to relevant protein |
|
|
Term
| What is a southwestern blot? |
|
Definition
| identifies DNA binding proteins (trnascription factors) using labeled oligonucleotide probes |
|
|
Term
| What is the purpose of microarrays? |
|
Definition
| profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments; able to detect SNPs |
|
|
Term
| T/F the specificity and sensitivity aof ELISA approach 100%. |
|
Definition
|
|
Term
| What is the "cre-lox system"? |
|
Definition
| can inducibly manipulate genes at specific developmental oints using an antibiotic controled promoter (e.g. to study a gene whose deletion causes embryonic death) |
|
|
Term
| How do you make trnasgenic mice? |
|
Definition
| random insertion of gene into mouse genome (constitutive); targeted insertion of deletion of gene through homologous recombintation with mouse gene (conditional) |
|
|
Term
|
Definition
| dsRNA syntehsized that is complementary to the mRNA sequence of interest. when transfected into human cells; dsRNA separates and promotes degradation of target mRNA, knocking down gene expression |
|
|
Term
| What kinds of body tissues do you need to perform karyotyping? |
|
Definition
| sample of blood, bone marrow, amniotic fluid, or placental tissue |
|
|
Term
|
Definition
| neither of 2 alleles is dominant |
|
|
Term
| What is variable expression? |
|
Definition
| nature and severity of phenotype vary from 1 individual to another |
|
|
Term
|
Definition
| 1 gene has > 1 effect on an individuals phenotype |
|
|
Term
|
Definition
| differences in phenotype depend on whether mutation is of maternal or paternal origin |
|
|
Term
| What types of genes can cause tumor syndromes due to loss of heterozygosity? |
|
Definition
|
|
Term
| What is a dominant negative mutation? |
|
Definition
| exerts a dominant effect; a heterozygote produces a nonfunctional altered protein that also prevents the normal protein from functioning |
|
|
Term
| What is linkage dysequilibrium? |
|
Definition
| tendency for certain alleles nearby in a gene to occur more often than expected by chance (measured in population not ina family and often variies in different populations) |
|
|
Term
|
Definition
| postfertilization loss of genetic information during mitosis |
|
|
Term
|
Definition
| random X inactivation in females |
|
|
Term
|
Definition
| random X inactivation in females |
|
|
Term
| What is a chimeric individual? |
|
Definition
| an individual whose genetic make up resutls from two zygotess that subsequently fuse |
|
|
Term
| What do you call it when mutations at different loci can produce the same phenotype? |
|
Definition
|
|
Term
| Name three different diseases that can cause a marfanoid habitus? |
|
Definition
| marfans, homocysteinuria, MEN 2B |
|
|
Term
|
Definition
| presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease |
|
|
Term
| What is uniparental disomy? |
|
Definition
| offspring recieves 2 copies of a chromosome from 1 parent and no copies from the other parent |
|
|
Term
| What is the hardy weinberg equation? |
|
Definition
|
|
Term
| What are the assumptions of the hardy weinberg law? |
|
Definition
| no mutation occuring at the locus, no selection for any of the genetypes of the locus, completely random mating, no migration |
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Term
| What is the abnormality of prader willi syndrome? |
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Definition
| individual has normally inactivated maternal allele on chr 15; paternal allele should be active but is deleted |
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Term
| What is the defect in angleman's syndrome? |
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Definition
| individual has normally inactivated paternal allel; maternal allel on chr 15 should be active but is deleted |
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Term
| What are the symptoms of prader willi syndrome? |
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Definition
| mental retardation, hyperphagia, obesity, hypogonadism, hypotonia |
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Term
| What are the symptoms of angel man syndrome? |
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Definition
| mental retardation, seizures, ataxia, inappropriate laughter (happy puppet) |
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Term
| Defects in structural genes often cause disease with what mode of inheritance? |
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Definition
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Term
| If ALL female offspring of an affected father are affected, the inheritance is likely... |
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Definition
|
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Term
| Name a disease that is x linked dominant? |
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Definition
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Term
| What is the defect of hypophosphatemic rickets? |
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Definition
| increased phosphate wasting at proximal tubule |
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Term
| What are the symptoms of Leber's hereditary optic neuropathy? |
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Definition
| acute loss of central vision |
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Term
| What is teh defect in achondroplasia? |
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Definition
| cell signaling defect of fibroblast growth factor receptor 3 |
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Term
| What genetic disease is associated with advanced paternal age? |
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Definition
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Term
| What is the presentaiton of ADPKD? |
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Definition
| flank pain, hematuria, hypertension, preogressive renal failure |
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|
Term
| What is the mutation associated with ADPKD? |
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Definition
| 90% due to mutation of PKD 1 on chr 16 |
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Term
| What other pathology besides polycystic kidneys is associated with ADPKD? |
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Definition
| polycystic liver disease, berry aneurysms, mitral valve prolapse |
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Term
| What is teh mutation that causese familial adenomatous polyposis? |
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Definition
|
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Term
| What is the MOA of familial hypercholesterolemia? |
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Definition
| elevated LDL due to defective or absent LDL receptor |
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Term
| What's another naem for familial hypercholesterolemia? |
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Definition
|
|
Term
| What is the cholesterol of someone with familal hypercholesterolemia? |
|
Definition
| heterozygote= 300 mg/dl; homozygote= 700+ mg/dl |
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Term
| What rae teh symptoms of familal hypercholesterolemia? |
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Definition
| severe atherosclerotic diesease early in life and tendon xanthomas 9classically in the achilles tendon); MI may develop before age 20 |
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Term
| What's another name for osler-weber-rendu? |
|
Definition
| hereditary hemorrhagic telangiectasia |
|
|
Term
| What are the findings in herditary hemorrhagic telangiectasia? |
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Definition
| telangiectasia, recurrent epistaxis, skin discoloration, ateriovenous malformations |
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Term
| Hereditary spherocytosis is due to a defect in.. |
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Definition
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Term
| What are the lab findings of hereditary spherocytosis? |
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Definition
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Term
| What disease can be cured with splenectomy/ |
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Definition
|
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Term
| What are the changes in neurotransmitter in the brain associated with huntingtons? |
|
Definition
| decreased levels of GABA and ACh |
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|
Term
| What is the mutation associated with huntingtons disease? |
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Definition
| trinucleotide repeat of CAG on chromosome 4 |
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Term
| What are the symptoms of marfans? |
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Definition
| tall with long extremities, pectus excavatum, hyperextensive joints, arachnodactyly; cystic medial necrosis of aorta leading to aortic insufficiency and dissecting aortic aneurysms; floppy mitral valve, subluxation of lenses |
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|
Term
| T/F Scoliosis is a symptom sof NF type 1? |
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Definition
|
|
Term
| What are the finidngs of neurofibromatosis type 1? |
|
Definition
| cafe au lait spots, neural tumors, lisch nodules , scoliosis and other skeletal disorders, optic pathway glioma |
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|
Term
| What chromosome is affected by NF 1? |
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Definition
|
|
Term
| What are the symptoms of NF2? |
|
Definition
| bilateral acoustic schwannomas, juvenile cateracts |
|
|
Term
| Where is the mutaon for NF 2? |
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Definition
|
|
Term
| What are the findings for tuberous sclerosis? |
|
Definition
| facial lesions (adnoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, and renal angiomyolipomas, cardiac rhabdymomas, increased incidence of astrocytoma |
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|
Term
| What is the incidence of astrocystoma? |
|
Definition
|
|
Term
| What accounts for the variable presentation of tuberous sclerosis? |
|
Definition
|
|
Term
| What are the findings of vHL disease? |
|
Definition
| hemangioblastoma of retina/cerebellum/medulla; about half of affected individuals develop bilateral renal cell carcinoma and toher tumors |
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|
Term
| What is the mutation associated with vHL |
|
Definition
| deletion of VHL gene (tumor supressor) on chr 3p; this results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors |
|
|
Term
| What is the inheritance of hemochromatosis? |
|
Definition
|
|
Term
| Name the only sphingolipidosis that is not AR? |
|
Definition
|
|
Term
| Where is the mutation for CFTR? |
|
Definition
|
|
Term
| What is the most common mutation of CF? |
|
Definition
|
|
Term
| What is the function of CFTR? |
|
Definition
| secretes Cl- in teh lung and resorbs cloride in sweat |
|
|
Term
| What is the most common lethal genetic disease of caucasians? |
|
Definition
|
|
Term
| What is the MOA of N-acetyl cystine for CF/ |
|
Definition
| cleaves disulfide bonds within mucous glycoproteins |
|
|
Term
| What types of organisms cause recurrent respiratory infections in CF patients? |
|
Definition
| pseudomonas and S. aureus |
|
|
Term
| How does the mutation of CF cause abnormal CFTR? |
|
Definition
| mutation causes abnormal protein folding, resulting in degradation of channel before reaching cell surface |
|
|
Term
| What is the inheritance pattern of ocular albinism? |
|
Definition
|
|
Term
| What is the pathogenesis of duchenes? |
|
Definition
| x linked fram shift mutation causes deletion of dystrophin gene; dystrophin gene is responsible for anchoring muscle fibors primarily in skeletal and cardiac muscle; absence causes accelerated muscle breakdown |
|
|
Term
| What is the presentation of duchenne's |
|
Definition
| weakness beginning in pelvic girdle muscles and progressing superiorly; pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle; cardiac myopathy |
|
|
Term
| At what age does Duchene's start to present? |
|
Definition
|
|
Term
| What is the mutation of becker's muscular dystrophy? |
|
Definition
| x linked mutated dystrophin gene (no frameshift) |
|
|
Term
| At what age does Becker's present? |
|
Definition
| adolescence or early adulthood (less severe than Duchenne's) |
|
|
Term
| What is the mutation associated with fragile X syndrome? |
|
Definition
| X linked defect (CGG repeat)What is the repeat affecting the methylation and expression of the FMR1 gene |
|
|
Term
| What is the trinucleotide repeat associated with friedreich's ataxia? |
|
Definition
|
|
Term
| What is the trinucleotide repeat associated with myotonic dystrophy? |
|
Definition
|
|
Term
| Gap between the first two toes is associated with what syndrome? |
|
Definition
|
|
Term
| Down syndrome patients are at an increased risk of what cancer? |
|
Definition
|
|
Term
| What are teh results of the pregnancy quad screen for Down's? |
|
Definition
| decreased AFP, increased B-hCG, decreased estriol, increased inhibin A |
|
|
Term
| What are the ultrasound findings of Downs? |
|
Definition
| increased nuchal translucency |
|
|
Term
| What is the risk of Down's after woman is over 45? |
|
Definition
|
|
Term
| What is the chromosomal abnormality responsible for Downs? |
|
Definition
| 95% due to meiotic nondisjunction of homologous chromosomes; 4% Robersonian trnaslocation; 1% due to Down mosaicism |
|
|
Term
| What mutation that causes DOwn's is NOT associated with AMA? |
|
Definition
|
|
Term
| What are the findings associated with edward's syndrome? |
|
Definition
| severe mental retardation, ricker bottom feet, micrognathia (small jaw), low-set ears, clenched hands, prominent occiput, congenital heart diesease |
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