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38 Cards in this Set

  • Front
  • Back
Temperature of Melting
Tm=4(G+C) + 2(A+T)
RNA Pol II
Synthesis of mRNA and snRNA
RNase H
Hydrolyzes RNA from cDNA strand and removes the primer RNA from the short RNA-DNA hybird
Amino acids associated with Histones
Arginine and Lysine. The positively charged side groups on histones are important in their interaction with DNA.
Most common form of DNA helix for eukaryotes
Right ahnded B form with 10 base pairs per turn.
Which polymerase synthesizes the leading strand
DNA Pol delta
Which ploymerase synthesizes the lagging strand
DNA Pol alpha
Which ploymerase plasy a role in repair
DNA Pol Epsilon
Which nucleotides are Pyrimidines
Thymine, Cytosine, Uracil.
Single ring hexamers
Which nucleotides are Purines
Adenine, Guanine.
Double rings, hexamer and pentamer.
RNA Poly A tail
Stabilizes mRNA by increasing resistance to cellular nucleases
V1 X C1 = V2 X C2
V1= Initial volume
C1= Initial concentration
V2= Final volume
C2= Final concentration
Mg++ concentration
Must exceed total dNTP concentration
Follicular Lymphoma
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)
Hereditary Hemochromatosis
HFE gene - 6p21.3
G to A mutation in exon 4
Mutant alleles
C282Y and H63D
Gaucher Disease
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
Cystic fibrosis
3 bp deletion that results in loss of phenylalanine at position 508 on protein. ΔF508.
Marginal zone lymphoma
t(11;18)
Mantle Cell Lymphoma
t(11;14) BCL1 - IGH genes
> expression of Cyclin D1
Where is teh MCH Class II cell surface receptor HLA-DR located?
Chromosome 6, beta exon 2
Burkitt Lymphoma
t(8;14) MYC IGH or
t(2;8) Kappa MYC or
t(8:22) MYC Lambda
Percision
Reproducability of independently determined test results
Accuracy
Ability to determine true value
Specificity
Ability to obtain a negative result in concordance with negative results obtained by the reference method.
#TN / #TN + #FP
Sensitivity
Ability to obtain a positive result in concordance with positive results obtained by the reference method.
#TP / #TP + #FN
Promyelocytic Leukemia
(PML)
t(15;17) PML - RARA genes
Treat with
ATRA (all trans-retionic acid)
Prader - Willi Syndrome
Angleman Syndrome
Chromosome 15q
Genetic imprinting
PWS-deletion on Paternally derived chromosome
AS-deletion on Maternally derived chromosome
Duchenne Muscular Dystrophy
(DMD)
Chromosome Xp21.2 DMD gene, encodes for protein dystrophin.
Large scale deletions. Alters reading frame leads to protein truncation.
What does Vancomycin resistant Staph Aureus use to build it's cell wall
Lactic acid instead of alanine
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.
Telomerase
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.
Fragile X Syndrome
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
What test can determine the actual number of repeats in individuals with a normal size gene or with a premutation for Fragile X.
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
Which enzyme separates ds DNA
Helicase is the enzyme that unwinds the DNA helix into single strands, facilitating replication
Which enzyme unwinds the dsDNA?
Topoisomerase II removes supercoiling of DNA by creating transitory breaks in the sugar-phosphate backbone.
Which type of bond force exists between DNA and histones?
DNA is negatively charged and histones are positively charged, therefore it is an ionic bond.
RNA Pol III
Synthesis of tRNA molecules.
What percentage of the huuman genone consists of repeated sequences?
50%