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-- Correct Answers-loss
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>330 wavelength - Correct Answers-Particulate matter contamination
230 wavelength - Correct Answers-Contamination of organic compounds
270 wavelength - Correct Answers-Phenol contamination
280 wavelength - Correct Answers-Protein contamination
5' capping process - Correct Answers-creates 5'-5' linkage
Accuracy - Correct Answers-Ability to determine true value
Activin A Receptor (ALK4) - Correct Answers-12q13
Gene fusion
Detection: ?
Associated with: Pancreatic carcinoma, lung cancer
Acute myeloid leukemia (AML)/myelodysplastic syndrome - Correct Answers-t(11q23)- multiple
partners
Acute myeloid leukemia (M2) - Correct Answers-t(8;21), t(6;9)
Acute myelomonocytic leukemia (M4) - Correct Answers-t(11;21), inv(16)(p13q22)
Acute promyelocytic leukemia (M3) - Correct Answers-t(15;17), 14q+
Acute T-lymphocytic leukemia - Correct Answers-t(11;14), del(9)(p21 or 22)
Adenomatous polyposis of the colon - Correct Answers-5q21
5q deletion, t(5;10)
Detection: Southern Blot, FISH, sequencing, SSCP
agarose gel electrophoresis - Correct Answers-most common, med size.
,larger DNA = lower buffer concentration (0.59-1%)
smaller DNA = higher concentration (2-3%)
Alkaptonuria (ochronosis) - Correct Answers-Metabolic Single-gene disorder
Enzymes
Gene: Homogentisic acid oxidase (3q21-q23)
Missense, frameshift, splice site mutations
Detection: cDNA sequencing, SSCP
ALL - Correct Answers-Acute lymphoblasic leukemia
9;22
FISH:CISH, RT-PCR
Found in bone marrow. High lymphoblast production leaves little or no normal cell production/population
Amplification refractory mutation system (ARMS) - Correct Answers-Employs a set of primer pairs
designed to overlap.
Only 1 will bind to target in presence of SNPs
Annealing temps/time - Correct Answers-50-70, 20-90 sec
AS - Correct Answers-Angelman Syndrome
Chromosome 15q11-13
Imprinting mutation
Gene UBE3A
Detection: DS
Maternal contribution is defective, paternal (uniparental disomy) contribution is silenced due to
epigenetics
-Development delay, happy demeanor, speech impairment, abnormal circadian cycle/less need for sleep.
ATM - Correct Answers-Ataxia-telangiectasia
chromosome 11
DS
Mutations in ATM gene cause variations in phosphorylating other proteins involved in DNA repair and
@ G1-G2 checkpoint.
Avian Erythroblastic Leukemia Viral Oncogene Homolog (ERBB-2, HER2) - Correct Answers-17q21
Amplification
, Detection: Immunohistochemistry, FISH
Associated with: Breast cancer
B-cell leukemia - Correct Answers-t(2;8), t(8;14), t(8;22), t(11;14)
Barcoding - Correct Answers-Adds unique tag to all nucleic acids within 1 sample so that various
samples can be mixed
beta-lactams - Correct Answers-antibiotic resistance genes: tem, shv, oxa, ctx-m
gram neg
Bioinfo: Algorithm - Correct Answers-A fixed set of commands in computer program
Bioinfo: Alignment - Correct Answers-Lining up 2+ sequences to search for maximal regions of
identity in order to assess extent of relatedness/homology
Bioinfo: Annotation - Correct Answers-Description of functional structures (introns/exons) in DNA or
secondary structure or functional regions to protein sequences
Bioinfo: Conservation - Correct Answers-Specific sequence changes (usually protein sequence) that
maintain properties of original sequence
Bioinfo: Domain - Correct Answers-Discreet portion of a protein or DNA sequence
Bioinfo: Gap - Correct Answers-Space introduced in alignment to compensate for insertions or
deletions in one of the sequences being compared
Bioinfo: GenBank - Correct Answers-Genetic sequence database sponsored by NIH
Bioinfo: Homology - Correct Answers-Similarly attributed to descent from common ancestor
Bioinfo: Identity - Correct Answers-Extent to which 2 sequences are the same
Bioinfo: Interface - Correct Answers-Point of meeting between computer and external entity
(operator, perhipheral device, communications medium)
Bioinfo: Local alignment - Correct Answers-Alignment of some portion of 2 sequences
Bioinfo: Motif - Correct Answers-Highly conserved short region in protein domains
Bioinfo: Multiple sequence alignment - Correct Answers-Alignment of 3+ sequences arranged with
gaps so that common residues are aligned together
Bioinfo: Optimal alignment - Correct Answers-Alignment of 2 sequences with best degree of identity
Bioinfo: Orthology - Correct Answers-Homology in different species due to common ancestral gene
Bioinfo: Paralogy - Correct Answers-Homology within the same species resulting from gene
duplication