(Mb) Ascp Test Prep With Complete Solutions

COAGULOPATHIES - -Disorder of blood coagulates caused by inherited or acquired defects in coagulation proteins, platelets, or vasculature -Von Wildebrand's Disease, hemophilia, Factor V Leiden DECREASE EXPRESSION - -Methylation of cytosine bases 5' to the gene -siRNAs complementary to the gene transcript INCREASE EXPRESSION - -Histone acetylation close to the gene PRADER-WILLI - -Type of mutation: deletion on chromosome 15 -Gene location: 15q11.2 -Sequence: translocation with loss on the critical region of chromosome 15 -Test?: PCR of RFLP or STR analysis HOW DOES PCR WORK WITH METHYLATED DNA? - -Primers are designed to recognize methylated and unmethylated sense strands at the gene promoter -Methylated bases inhibit enzyme activity at the recognition sites WHY DOES DNA POLYMERASE REQUIRE A PRIMER? - -3' hydroxyl group from an existing nucleotide must be present to form the phosphodiester bond BREAST CANCER HER1/ErbB1 - -EGFR, estrogen receptor (ER) is overexposed -Estrogen binds, ER dimerizes which leads to TXN of genes that promote proliferation -Treatment: Tamoxifen, raloxifene, faslodex TAMOXIFEN - -Treats ER+ breast cancer -ER antagonist -Metabolized by CYP206 and 3A4 to its active form LIGASE CHAIN REACTION - -Method for amplifying synthetic primers/probes complementary to target nucleic acid -Entire target sequence must be known in order to prepare the oligonucleotide primers -Primers bind adjacent to each other, separated by only 1 base IRINOTECAN - -Prevents DNA from unwinding by inhibition of topoisomerase I -Inactivated by glucironidation to uridine diphosphate glucoronosyltransferase IAI (UGTIAI) POST TRANSPLANT LYMPHOPROLIFER ALIVE DISORDER - -B-cell proliferation due to therapeutic immunosuppression after organ transplantation following infection with EBV -Patients may develop infectious mono-like lesions or polyclonal polymorphc B-cell hyperplasia BURKITT'S LYMPHOMA - -t (8;14) (q24;q32) -t causes c-myc to be constitutively expressed to unregulated proliferation (clonal B cell expansion) SICKLE CELL ANEMIA - -Type of mutation: single base substitution, single-nucleotide polymorphism -Gene location: 11p15.5 -Sequence: formation of Hemoglobin S -Test?: Sequencing, PCR-RFLP FOLLICULAR LYMPHOMA - -t (14;18) -WT BCL 2 regulates apoptosis -t causes overexpression of BCL 2 to immortal cell (clonal B cell expansion) POLY-A TAIL - -prevents mRNA from being degraded in cytoplasm -100-250 A's at 3' end DNA POLYMERASE - -Catalyzes phosphodiester bond between nucleotides -Uses ssDNA as a template to determine which nucleotides to add DNA POLYMERASE I - -Processes Okazaki fragments -Replaces RNA primers with DNA (exonuclease activity)