final
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
|
|
||||
|---|---|---|---|---|---|
| Rifampicin | interferes with initiation of transcription by blocking the passage channel fo RNA/DNA hybrid, prok only
🗑
|
||||
| Actinomycin | inserts itself btwn base pairs (DNA can't be a template for RNA pol) both prok and eukaryotes
🗑
|
||||
| streptolydigin | binds to RNA pol, prevents phosphodiester bond formation (prok)
🗑
|
||||
| α-amanitin | strongly inhibits RNA polymerase II, weakly inhibits RNA pol III (euk)
🗑
|
||||
| streptomycin | inhibits initiation, misreading of mRNA (prok)
🗑
|
||||
| tetracycline | binds to 30s, inhibits binding of aminoacyl-tRNA (prok)
🗑
|
||||
| chloramphenicol | inhibits peptidle transferase at 50s (prok)
🗑
|
||||
| cyclohexamide | inhibits peptidyl transferase activity in 60s (euk)
🗑
|
||||
| Erythromycin | binds to 50s subunit and inhibits translocation
🗑
|
||||
| Puromycin | premature chain termination, acts as an analog of aminoacyl-tRNA (prok & euk)
🗑
|
||||
| Cyclin D | CDK 6&4 get through G1
🗑
|
||||
| Cyclin E | CDK 2 G1--> S
🗑
|
||||
| Cyclin A | S-->G2-->M, regulated by APC
🗑
|
||||
| Cyclin B | CDK1 through M, regulated by APC
🗑
|
||||
| Retinoblastoma | Rb is a tumor suppressor gene, usually binds & inactivates E2F, with growth signals Rb is phosphorylated and releases E2F (transcription factor)
🗑
|
||||
| p53 | transcription factor, ordinarily synthesized and degraded, if it hangs out to long it moves into the nucleus and turns on transcription of p21 (CDK-inhibitor)
🗑
|
||||
| Li_Fraumeni Syndrome | inherited p53 defect
🗑
|
||||
| autosomal dominant | 1. no skipping of generations
2. males and females are equally likely to be affected
3. normal siblings of affected individuals do NOT pass it on
4. usually a structural protein not an enzyme
🗑
|
||||
| Marfan Syndrome | Autosomal dominant (variable expressivity), mutation in the FBN1 gene, chrom 15 - encodes for fibrillin-1, skeletal abnormalities
🗑
|
||||
| Huntington | Autosomal dominance (late onset), CAG repeats in the coding section (encoded bc of strand slippage during replication)
🗑
|
||||
| myotonic dystrophy | autosomal dominant, delayed expression in NON-translated region, slowly progressive muscle weakness and myotonia
🗑
|
||||
| genetic anticipation | tendency for the severity of the disease to increase and the age of onset to decrease
🗑
|
||||
| fragile x | X-linked dominant increased CGG repeats, FMR1 not expressed, no protein made, since females carry 2 Xs tends to be milder
🗑
|
||||
| neurofibromatosis type 1 | cafe au lait spots, protein is neurofibromin which causes a loss of growth supressors, autosomal dominant inheritance (high new mutation rate)
🗑
|
||||
| achondroplasia | autosomal dominant, high recurrent mutation, short stature, mutation in the fibroblast growth factor receptor gene 3 (severely shortened bones)
🗑
|
||||
| Potter's syndrome | autosomal dominant, incomplete penetrance
🗑
|
||||
| Autosomal recessive | 1. equal male & female
2. sibling recurrence rate is 1/4
3. characteristically found in siblings, not parents
4. parents may be related
5. may be an isolated event in small sibships
🗑
|
||||
| X-linked recessive | never pass father to son
affected females MUST have affected fathers
typically passed from affected grandfather to 1/2 of grandsons
🗑
|
||||
| X-linked dominan | never pass father to son
all daughters of affected parents are affected, all sons of affected male and unaffected female are normal
affected females x normal male = 1/2 affected sons
male more seriously affected than females
🗑
|
||||
| Patau | trisomy 13, usually die within 3 months
🗑
|
||||
| edwards syndrome | trisomy 18, distinct facial features, 80% of those affected are females,
🗑
|
||||
| klinefelter | XXY low levels of testosterone
🗑
|
||||
| turner | XO, underdeveloped female secondary sex characteristics, webbed neck
🗑
|
||||
| williams syndrome | deletion of the q arm of chrom 7 (including elastin gene), broad forehead, short nose, widely spaced teeth
🗑
|
||||
| cri du chat | deletion of the short arm of chrom 5, 80% of time comes from father's sperm,abnormal larynx development = mewing (becomes normal w/i few weeks),
🗑
|
||||
| imprinting | reversible form of inactivation, acts through methylation, only occurs on 9 chrom
🗑
|
||||
| prader-willi | small deletion on the short arm of chrom 15 from father. hypotonia, difficulty feeding, insatiable appetite, small hands and feet, hypogonadism
🗑
|
||||
| angelman | small deletion on short arm of chrom 15 from mother, severe mental retardation, nonverbal, balence disorder
🗑
|
||||
| osteogenesis imperfecta | mosaicism, type 1 collagen disorder, easy fractures of the bone, autosomal dominant
🗑
|
||||
| methotrexate and aminopterin | inhibit thymidylate synthase (no dTTP)
🗑
|
||||
| fluorouracil | inhibits dihydrofolate reductase (do dTTP)
🗑
|
||||
| HGPRT | deficiency --> Lesch Nyan, X-linked recessive
🗑
|
||||
| Adenosine deaminase deficiency | used in purine salvage pathway, causes SCID, ATP and dATP accumulate --> imbalnce of nucleotide pool, prevents DNA syn
🗑
|
||||
| glutamine PRPP amidotransferase | purine synthesis, removes pyrophosphate from PRPP leavind a phosphoribosyl amine
🗑
|
||||
| Xanthylate synthase | uses NAD and H2O to form a carbonyk, can be inhibited by GMP
🗑
|
||||
| allopurinal | suicide inhibitor of xanthine OXIDASE, enzyme can't degrade purines to urate
🗑
|
||||
| carbamoyl phosphate synthase | pyrimidine synthesis, NOT from urea cycle, inhibited by UTP, activated by PRPP
🗑
|
||||
| ribonucleotide reductase | removes 2'OH, so they can be incorporate into DNA, regulated to keep the dNTPs in balence
🗑
|
||||
| campothecin and doxorubicin | type 1&2 topoisomerase inhibitors, stabilize the DNA-topoisomerase complex, DNA makes cut and the drug blocks the reattachment
🗑
|
||||
| cohesins | hold chromosomes together, regulated by APC (through securin and separase)
🗑
|
||||
| T-loops | hides dsDNA from DNA repair machinery, free of nucleosomes, stabilized by TRF1 proteins
🗑
|
||||
| RNA syn | does NOT require a promoter, initiation is TATA region, termination is GC rich (forms hairpin), can also have rho factor (ATPase and a helicase, binds to Crich, G poor region and pulls it away from the RNA pol and DNA template)
🗑
|
||||
| RNA trasncription | a DAB of F brings RNAPOL, EH?
🗑
|
||||
| spliceosom | snRNPs and pre-mRNA
🗑
|
||||
| B-thalassemia | abnormal splicing of B-globin
🗑
|
||||
| amino-acyl tRNA stnthetase | requires ATP
🗑
|
||||
| ran | signal peptide receptor in nucleus and cytoplasm, serves in both nuclear import and export,
🗑
|
||||
| NF-AT | transcription factor mediated by nuclear import/export, wehn it is stimulated calcinurin moves to the nucleus and stimulates trascription, in low calcium environment calcineurin falls off and the NF-AT is kicked out of the cell
🗑
|
||||
| cholera | colonize the small intestine and produce mono-ADP-ribotransferase, modifies the G-protein involved in walter and salt balence. G-protein cannot release GTP so Adenylyl cyclase is active --> inc cAMP --> intestinal cells secrete water and salts
🗑
|
||||
| Pertussis | whooping cough, colonize the lungs and add ADP-ribose ot G-protein resulting in inc mucus secretion
🗑
|
||||
| Diphtheria | infect nasopharynx/skin, toxin is endocytosed after binding to epidermal growth factor receptor --> acidified in endosome --> ribosylation of EF2 (blocks protein syn)
🗑
|
||||
| Ricin | heterodimeric ribosome-inhibiting proteinm doens't use NAD+ instead cleaves A and stops protein syn
🗑
|
||||
| somatic cell hybrids | use sendai virus to fuse 2 cells and nuclei from different species. can't be used for disease genes
🗑
|
||||
| RFLP | markers to certain locations on different chromosomes, can indicate whether crossing-over has occurred btwn the marker and the disease gene (show you how close together the 2 are)
🗑
|
||||
| Beckswith Wiedemann Syndrome | chrom 11 - imprinted in father, maternal deletion = syndrome, paternal deletion = no effect
🗑
|
||||
| CGH comparative genomic hybridization | detects global gains and losses by compaing sa,ple DNA to the normal human chrom, can detect anueploidy or gene amplificaion in tumors, will not detect balenced rearrangements
🗑
|
||||
| GPCRs | largest family of cell surface receptors, 7transmembrane domains, extracellular domain binds ligand, can be inactivated by receptor inactivation, receptor internalization or receptor downregulation
🗑
|
||||
| ATP used per peptide bond in protein synthesis | 4
🗑
|
||||
| Neurofibromatosis II | mutation on tumor supressor gene, chrom 22, Bilateral acoustic neuroma (CN VIII), Juvenile cateracts
🗑
|
||||
| Rett's | MECP2 genes>> form synapses between nerve cells, unclear,
X-linked, fatal in males, hand-wringing
🗑
|
||||
| Beckwith- Wiedemann | Macrosomia: large body
Macroglossi: large tongue
Enlargement of internal organs
maternally imprinted
Wilm’s tumor and embryonal tumors
omphalocele
🗑
|
||||
| Xeroderma pigmentosa | inability to repair thymine dimers
🗑
|
||||
| Ataxia telangectasia | defect in ATM protein>> protein kinase activated by double strand breaks
🗑
|
||||
| Wilm’s tumor | defect in the imprinting of the insulin like growth factor 2 gene>> both maternal and paternal expression
Symptoms:
Childhood tumor of the kidney
🗑
|
||||
| karyotyping with light microscopy | G-banding
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
LCiminello
Popular Biochemistry sets