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38 Cards in this Set
- Front
- Back
Temperature of Melting
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Tm=4(G+C) + 2(A+T)
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RNA Pol II
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Synthesis of mRNA and snRNA
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RNase H
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Hydrolyzes RNA from cDNA strand and removes the primer RNA from the short RNA-DNA hybird
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Amino acids associated with Histones
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Arginine and Lysine. The positively charged side groups on histones are important in their interaction with DNA.
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Most common form of DNA helix for eukaryotes
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Right ahnded B form with 10 base pairs per turn.
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Which polymerase synthesizes the leading strand
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DNA Pol delta
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Which ploymerase synthesizes the lagging strand
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DNA Pol alpha
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Which ploymerase plasy a role in repair
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DNA Pol Epsilon
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Which nucleotides are Pyrimidines
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Thymine, Cytosine, Uracil.
Single ring hexamers |
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Which nucleotides are Purines
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Adenine, Guanine.
Double rings, hexamer and pentamer. |
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RNA Poly A tail
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Stabilizes mRNA by increasing resistance to cellular nucleases
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V1 X C1 = V2 X C2
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V1= Initial volume
C1= Initial concentration V2= Final volume C2= Final concentration |
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Mg++ concentration
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Must exceed total dNTP concentration
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Follicular Lymphoma
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t(14;18) - IGH/BCL2 genes
Most translocations occur in BCL2 gene at the MBR (major breakpoint region). 5-10% involve BCL2 translocation at MCR (minor cluster region) |
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Hereditary Hemochromatosis
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HFE gene - 6p21.3
G to A mutation in exon 4 Mutant alleles C282Y and H63D |
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Gaucher Disease
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AR mutation Chromosome 1.
A to G mutation L444P. Lipid accumulation Type II Neurologic problems, death by age 3. Type III Neurologic problems, death by age 30 |
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Cystic fibrosis
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3 bp deletion that results in loss of phenylalanine at position 508 on protein. ΔF508.
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Marginal zone lymphoma
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t(11;18)
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Mantle Cell Lymphoma
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t(11;14) BCL1 - IGH genes
> expression of Cyclin D1 |
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Where is teh MCH Class II cell surface receptor HLA-DR located?
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Chromosome 6, beta exon 2
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Burkitt Lymphoma
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t(8;14) MYC IGH or
t(2;8) Kappa MYC or t(8:22) MYC Lambda |
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Percision
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Reproducability of independently determined test results
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Accuracy
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Ability to determine true value
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Specificity
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Ability to obtain a negative result in concordance with negative results obtained by the reference method.
#TN / #TN + #FP |
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Sensitivity
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Ability to obtain a positive result in concordance with positive results obtained by the reference method.
#TP / #TP + #FN |
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Promyelocytic Leukemia
(PML) |
t(15;17) PML - RARA genes
Treat with ATRA (all trans-retionic acid) |
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Prader - Willi Syndrome
Angleman Syndrome |
Chromosome 15q
Genetic imprinting PWS-deletion on Paternally derived chromosome AS-deletion on Maternally derived chromosome |
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Duchenne Muscular Dystrophy
(DMD) |
Chromosome Xp21.2 DMD gene, encodes for protein dystrophin.
Large scale deletions. Alters reading frame leads to protein truncation. |
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What does Vancomycin resistant Staph Aureus use to build it's cell wall
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Lactic acid instead of alanine
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Methicillin-resistant Staphylococcus aureus
(MRSA) |
Methicillin binds to & inactivates protiens involved in bacterial cell wall synthesies called penicillin-binding proteins(PBPs). MecA gene produces a foreign PBPs called PBP2 as the mechanism for resistance to methicillin.
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Telomerase
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Several repeats of TTAGGG at end of chromosomes. Ea time a cell divides a few repeats are lost, limits # of times a cell can divide to about 50 generations. Further division requires enzyme telomerase to restore repeat sequences.
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Fragile X Syndrome
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Chromosome Xq27.3 - FRAXA
Most common mendelian inherited form of mental retardation. Trinucleotide repeat disorder. Repeats of CGG Normal 6-44 repeats Gray zone 45-54 repeats Premutation 55-200 Full mutation >200 repeats |
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What test can determine the actual number of repeats in individuals with a normal size gene or with a premutation for Fragile X.
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PCR. It is not the test of choice to diagnose a full mutation, but is quite accurate in determining premutation and normal gene repeat numbers. Full mutation have to do Southern Blot.
Normal male 2.8 kb on SB Normal female 2.8 and 5.2 kb |
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Which enzyme separates ds DNA
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Helicase is the enzyme that unwinds the DNA helix into single strands, facilitating replication
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Which enzyme unwinds the dsDNA?
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Topoisomerase II removes supercoiling of DNA by creating transitory breaks in the sugar-phosphate backbone.
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Which type of bond force exists between DNA and histones?
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DNA is negatively charged and histones are positively charged, therefore it is an ionic bond.
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RNA Pol III
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Synthesis of tRNA molecules.
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What percentage of the huuman genone consists of repeated sequences?
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50%
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