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PDA I > Exam 1 - Pharmacogenomics > Flashcards

Exam 1 - Pharmacogenomics Flashcards

1
Q

study of how an individual’s genes influence effects of drugs on that individual’s health

A

pharmacogenomics

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2
Q

entire genetic information of an organism

A

genome

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3
Q

study of structure and function of genomes

A

genomics

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4
Q

reduces adverse drug events (ADEs, something related to patient that gets reported), reduces health care costs, improves health care outcomes, stakeholders demand use of PGx

A

applications of PGx to health care

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5
Q

anticoagulants, antidiabetics, antiepileptics, opioids, aspirin

A

most common ADR culprits

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6
Q

lead to increased length of hospital stays, readmission rates, total hospitalization costs, inpatient mortality

A

ORADEs (opioid related ADEs)

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7
Q

pharmaceutical companies received this saying that they must use genomic information as part of med guides

A

FDA issued guidance

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8
Q

President Bush signs this into law in 2008

A

Genetic Information Nondiscrimination Act (GINA)

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9
Q

how many nucleotides in human genome?

A

3.2 billion

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10
Q

what percentage of the human genome constitutes genes?

A

less than 2%, many repeated sequences, many movable/jumping elements

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11
Q

gene or element that moves from place to place in genome

A

movable/jumping elements

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12
Q

our genomes are ____ not ____, ______% same only _____% different, these differences are what cause us to respond differently to _____

A

similar, same, 99.9, 0.1, drugs

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13
Q

chromosomes number variations, gene copy number variations,insertion/deletion nucleotides, SNPs

A

types of DNA sequence variations

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14
Q

differences in one nucleotide, good because it is better than, for example, a whole chromosome being added/deleted, predominate variations (98%)

A

single nucleotide polymorphisms (SNPs)

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15
Q

study of biological variation and principles governing the inheritance and maintenance of that variation

A

definition of genetics

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16
Q

variation is essential for survival, some variation may be disadvantageous (the ones that get discarded), or may be advantageous (the ones that stay)

A

central assumptions of genetics

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17
Q

threadlike structures in which an organism’s genetic material is organized, composed of DNA RNA proteins (eukaroytic), composed of two chromatids joined at centromere, normally present in pairs, different species have different numbers of these, specific to each organism

A

chromosomes

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18
Q

somatic cells, double chromosome number (2N/2n)

A

diploid cells

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19
Q

reproductive cells/gametes have half the number of chromosomes (N/n) as that of somatic cells

A

haploid cells

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20
Q

technique to display chromosomes

A

karyotyping

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21
Q

chromosome pairs 1-22 are called _____ while pair 23 is called ____ and is designated ____ or ____

A

autosomes, sex chromosomes, XX, XY

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22
Q

Down syndrome

A

trisomy 21, extra copy of chromosome 21

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23
Q

severe retardation, death

A

trisomy 13, extra copy of chromosome 13

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24
Q

microcephaly (smaller brain size)

A

trisomy 18, extra copy of chromosome 18

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25
Q

behavioral defects

A

trisomy X, extra copy of chromosome X in females

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26
Q

sterility, gynecomastia (breasts developed)

A

XXY, extra copy of X in males

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27
Q

hyperactivity

A

XYY, extra copy of Y in males

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28
Q

physical transfer of part of one chromosome to another, often cause schizophrenia or bipolar disorders and some cancers

A

translocations

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29
Q

why does DNA folding happen?

A

DNA is a very large structure and needs to fit inside nucleus of cells, also needs to be able to unfold at will

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30
Q

coiling and compaction is an intrinsic property of cellular DNA, all cellular DNA is reversibly supercoiled to various degrees, cellular proteins affect degree of coiling and compaction

A

DNA supercoiling

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31
Q

enzyme that bind to DNA/”rides” DNA, enzyme opens DNA strand but remains attached to 3’ end of DNA, once enzyme releases itself of DNA a phosphodiester bond is formed to close DNA strand (anytime there is a strand that is broken and remain unfixed the cell will die), relieve supercoiling of DNA

A

mechanism of action of topoisomerases

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32
Q

cut only one strand of DNA and unwind supercoils

A

Type I topoisomerases

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33
Q

cut both DNA strands and unwind supercoils

A

Type II topoisomerases

34
Q

make it so that topoisomerases must remain bound to DNA, in case of antibiotics, the drug remains bound to bacterial DNA to cause cells to die because broken strands that remain unfixed die

A

topoisomerase inhibitors

35
Q

gastric, colon, lung, ovarian cancers, leukemias

A

camptothecin

36
Q

testicular, lung, gastric cancers, leukemias, sarcomas

A

etoposide (VP-16)

37
Q

breast cancer, osteogenic sarcomas, lymphomas

A

doxorubicin

38
Q

leukemia

A

daunorubicin

39
Q

acute lymphoblastic leukemia

A

teniposide (VM-26)

40
Q

used against pathogens resistant to other antibiotics

A

moxifloxacin

41
Q

used against pathogens resistant to other antibiotics and anthrax

A

ciprofloxacin

42
Q

mass of nucleic acids (mostly DNA, some RNA) and proteins in the nucleus of eukaryotic cells, undergoes physiochemical changes depending on cell physiology

A

chromatin

43
Q

diffused open structure that represents active genes

A

euchromatin

44
Q

compact dense structure that is inactive

A

heterochromatin

45
Q

fundamental organizational unit of chromatin, formed by DNA and tightly bound proteins (histones), DNA wraps around histones which is important for cancer treatment

A

nucleosomes

46
Q

small proteins with high basic amino acid content, five major classes

A

histones

47
Q

dynamic nature of chromatin structure governs its function, structure regulates DNA replication, expression, amplification, silencing of genes

A

therapeutic applications of chromatin structure

48
Q

chromatin structure application, cancer treatment

A

histone deacetylase

49
Q

chromatin structure application, cancer treatment, heart disease

A

Poly-ADP-Ribose polymerase

50
Q

chromatin structure application, viral diseases including HIV

A

DNA polymerase, reverse transcriptase, integrase

51
Q

most eukaryotic non-gene DNA is ______, about half of which is derived from _______

A

repetitive, transposable elements (TEs), so of the 98% of DNA that aren’t genes about half of that is movable throughout the genome, may cause mutations

52
Q

ends of a chromosome, unique function during DNA replication

A

telomere

53
Q

highly repetitive DNA, critical in cell division, middle of chromsome

A

centromere

54
Q

basic unit of inheritance responsible for determining a trait of an organism, contains all genetic information necessary and sufficient for producing a functional polypeptide or RNA molecule

A

gene

55
Q

regulate expression of genes

A

promoters

56
Q

sequences that do not code for proteins

A

introns

57
Q

code for part or all of a specific protein or RNA product

A

exons

58
Q

removes intronic RNA, joins exonic RNA, makes mature message

A

splicing

59
Q

amyotrophic lateral sclerosis (ALS), calcium-activated K+ channel in inner ear hair, muscular dystrophy, dementia

A

alternative splicing defects

60
Q

skeletal muscle atrophy, X-linked, defects in dystrophin, different forms or subtypes, DMD most common

A

muscular dystrophy

61
Q

largest gene in humans, encodes largest human protein dystrophin, multiple isoforms produced by alternative splicing, mutations known to affect splicing

A

DMD (Duchenne MD) genetics

62
Q

____ can be in any place on the gene

A

deletions

63
Q

during transcription, transcription factors skip certain exons

A

exon skipping

64
Q

single stranded oligonucleotides, complementary to target pre-RNA or mRNA, modulate translation and increase/decrease protein level

A

antisense oligonucleotides (AONs) as drugs

65
Q

drug used for age related macular degeneration

A

Macugen / AON: Pegaptanib

66
Q

drug used for muscular atrophy

A

Spinraza / AON: Nusinersen

67
Q

drug used for HF Hypercholesterolemia

A

Kynamro / AON: Mipomersen

68
Q

drug used for DMD

A

Exondys 51 / AON: Eteplirsen

69
Q

basic unit of hereditary final product may be protein or RNA

A

gene

70
Q

different form of a gene, in a population there may be more than one of these per gene

A

allele

71
Q

only one copy essential to exhibit a trait

A

dominant

72
Q

two copies of allele required to exhibit a trait

A

recessive

73
Q

indicates presence of two alleles that are exact copies of each in the same individual organism

A

homozygous

74
Q

two different alleles of a gene in the same individual organism

A

heterozygous

75
Q

description of the genetic composition of a specific trait

A

genotype

76
Q

description of a physical, physiological, biochemical, pharmacological, clinical presentation of a trait, some are visible and others are not

A

phenotype

77
Q

any physical or chemical change in the genetic material of an organism, may occur anywhere in the genome of an organism, anytime in the life cycle of an organism, may be disadvantageous/advantageous to organism, heritable these transmitted to offspring

A

mutations

78
Q

study of inheritance of a trait in several generations of genetically related individuals, provides valuable information, help understand inheritance patterns of traits within families (many generations), important method of studying inheritance of a known disease or defect, requires precise reliable set of clinical features associated with the conditions, 3-4 generations used, management and counseling

A

pedigree charts

79
Q

manifests even if only one copy of the allele is present, males and females are affected in same ratio, condition does not skip generations, whether or not offspring will inherit a dominant trait is 50%, more common in structural protein genes (brittle bone disease), may also result in gain-of function (additional function may be advantageous or deleterious)

A

autosomal dominant genes/inheritance

80
Q

Huntington disease, color blindness, polycystic kidney disease, familial hypercholesterolemia

A

examples of dominant gene disorders

PDA I (3 decks)

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