Warfarin (Coumadin) - ✔️✔️CYP2C9 and VKORC1 - Vitamin K antagonist;
metabolized primarily via oxidation in the liver by CYP2C9 and exerts its anticoagulant
effect by inhibiting the protein vitamin epoxide reductase complex, subunit 1 (VKORC1)
Chronic Myelogenous Leukemia (CML) - ✔️✔️t(9;22) aka Philadelphia Chromosome,
translocation occurs within two genes: the breakpoint cluster region (BCR) on chr.22
and the cellular counter part of the Abelson Leukemia virus tyrosine kinase (c-abl) on
chr.9
Acute Promyelocytic Leukemia (APL) - ✔️✔️t(15;17) a fusion of PML and RARA
Burkitt's Lymphoma - ✔️✔️t(8;14) the breakpoints on chr.8 are spread of 190 kbp
region 5' to and within the C-MY C gene
Follicular Cell Lymphoma (FCL) - ✔️✔️t(14;18) translocation disregulate BCL2, which
inhibits apoptosis in B lymphocytes, which leads to survival of genetically damaged cells
Mantle Cell (MCL) - ✔️✔️t(11;14) translocation increases expression of CCND1
BCR;ABL1 fusion protein - ✔️✔️t(9;22)(q34;q11)
Marginal Zone Lymphoma - ✔️✔️t(11;18)
Vorinostat/Zolina - ✔️✔️second-line drug for cutaneous T-cell lymphoma. Treatments
are often used in combination with phototherapy and chemotherapy
Irinotecan - ✔️✔️UGT1A1 - Prevents DNA from unwinding by inhibition of
topoisomerase 1
Tamoxifen - ✔️✔️CYP2D6 - anti estrogen therapy for hormone receptor-positive breast
cancer in pre-menopausal women
Azathioprine - ✔️✔️TPMT - immunosuppresive used in organ transplant
Carbamazepine - ✔️✔️Ineffective to HLA B1502
Plavix - ✔️✔️CYP2C19 - anticoagulant (stroke, heart attack)
, Herceptin - ✔️✔️HER2/Neu - anti Her2/neu
Ribavirin Interferon Therapy - ✔️✔️HCV - works really well for HCV genotype 2 and 3
Carbamazepine - ✔️✔️ineffective to HLA B1502
Multiplex PCR - ✔️✔️single PCR reaction where more than one product is made using
multiple primer sets
How many times does proficiency testing happen in lab? - ✔️✔️at least twice per year
How do you keep RNA from degrading - ✔️✔️long term storage is best in ethanol at -
70C
.3% Agarose - ✔️✔️500-60,000
.6% Agarose - ✔️✔️1,000-20,000
2% - ✔️✔️100-3,000
What % of human population of DNA is reptitive - ✔️✔️50%
Specificity Formula - ✔️✔️TN/(TN+FP)
Sensitivity Formula - ✔️✔️TN/(TN+FN)
Denaturing Polyacrylamide - ✔️✔️Mutation Detection Electrophoresis (MDE)
Non-denaturing Polyacrylamide - ✔️✔️Single Strand Conformation Polymorphism
(SSCP)
ACGT - ✔️✔️Green, Blue, Black, Red
Pyrimidine - ✔️✔️Single Ring - Thymine and Cytosine
Purine - ✔️✔️Two rings - Adenine and Guanine
How to calulate annealing temperature - ✔️✔️Tm = 4(G+C) + 2(A +T)
GC has higher annealing temperature
Most common form of DNA - ✔️✔️Right handed B form