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Genomics > 1-13-25 > Flashcards

1-13-25 Flashcards

yyPGx Lecture1

1
Q

what is an actionable signature?

A

information used to make treatment decision

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2
Q

what characteristics can genetic markers distinguish?

A

pts who are most likely to respond to a drug, pts who are most likely to develop side effects, pts who should not take the drug, and the best dose to be taken

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3
Q

what polymorphisms determine 50% dose variance in patients taking warfarin?

A

VKOCR1
CYP2C9
CYP4F2

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4
Q

are approved pharmacogenomic drug labels increasing or decreasing?

A

increasing
150 in 2018, 385 in 2020, and 517 in 2023

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5
Q

what is pharmacokinetics?

A

what the body does to the drug
ADME

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6
Q

what is pharmacodynamics?

A

what the drug does to the body
receptor, target, signaling, enzymes

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7
Q

what are the four bases of DNA?

A

adenine (A)
thymine (T)
guanine (G)
cytosine (C)

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8
Q

what is anti-parallel binding?

A

binding of DNA bases
A=T (2 hydrogen bonds)
G-=C (3 hydrogen bonds)

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9
Q

what is a genome?

A

an organism’s complete set of DNA, including all of its genes

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10
Q

how many base pairs are in a copy of an entire genome?

A

3 billion DNA base pairs in all cells that have a nucleus

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11
Q

what are protein coding genes?

A

genes that are expressed to be proteins
only 1-3% of the human genome are protein-coding sequences
around 20,000 genes found

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12
Q

what are miRNA?

A

microRNAs
play very important role in regulating protein-coding gene expression

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13
Q

what are noncoding genes?

A

final product is an RNA, not a protein
example: tRNA, rRNA, miRNA, LncRNA, antisense RNA, pseudogenes

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14
Q

what is the structure of a gene?

A

5’UTR (untranslated region)
Exon
Intron
Exon
3’UTR

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15
Q

what does the blue section signal in the structure of a gene?

A

translated sequence
start

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16
Q

what does the red region signal in the structure of a gene?

A

untranslated region (UTR)

17
Q

what is the previous thinking of the central dogma?

A

DNA (replication) via transcription into RNA via translation into Proteins

18
Q

what is the current thinking of the central dogma?

A

DNA (replication) via transcription into RNA (rna replication) via translation into protein (prion)

19
Q

at what stage of the central dogma does the coronavirus replication?

A

RNA replication

20
Q

what is transcription?

A

maturation of mRNA from the nucleus into the cytoplasm
DNA (ATGC) becomes RNA (AUGC)

21
Q

what is translation?

A

RNA to protein
starts with AUG and ends with a stop codon

22
Q

how many codons are there?

A

64

23
Q

how many amino acids are there?

A

20

24
Q

what is a polymorphism?

A

a sequence variation at the same position of homologous chromosomes (diploid genome)

25
Q

are there polymorphisms in haploid genomes?

A

no

Genomics (3 decks)

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