1-13-25 Flashcards
yyPGx Lecture1 (25 cards)
what is an actionable signature?
information used to make treatment decision
what characteristics can genetic markers distinguish?
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
what polymorphisms determine 50% dose variance in patients taking warfarin?
VKOCR1
CYP2C9
CYP4F2
are approved pharmacogenomic drug labels increasing or decreasing?
increasing
150 in 2018, 385 in 2020, and 517 in 2023
what is pharmacokinetics?
what the body does to the drug
ADME
what is pharmacodynamics?
what the drug does to the body
receptor, target, signaling, enzymes
what are the four bases of DNA?
adenine (A)
thymine (T)
guanine (G)
cytosine (C)
what is anti-parallel binding?
binding of DNA bases
A=T (2 hydrogen bonds)
G-=C (3 hydrogen bonds)
what is a genome?
an organism’s complete set of DNA, including all of its genes
how many base pairs are in a copy of an entire genome?
3 billion DNA base pairs in all cells that have a nucleus
what are protein coding genes?
genes that are expressed to be proteins
only 1-3% of the human genome are protein-coding sequences
around 20,000 genes found
what are miRNA?
microRNAs
play very important role in regulating protein-coding gene expression
what are noncoding genes?
final product is an RNA, not a protein
example: tRNA, rRNA, miRNA, LncRNA, antisense RNA, pseudogenes
what is the structure of a gene?
5’UTR (untranslated region)
Exon
Intron
Exon
3’UTR
what does the blue section signal in the structure of a gene?
translated sequence
start
what does the red region signal in the structure of a gene?
untranslated region (UTR)
what is the previous thinking of the central dogma?
DNA (replication) via transcription into RNA via translation into Proteins
what is the current thinking of the central dogma?
DNA (replication) via transcription into RNA (rna replication) via translation into protein (prion)
at what stage of the central dogma does the coronavirus replication?
RNA replication
what is transcription?
maturation of mRNA from the nucleus into the cytoplasm
DNA (ATGC) becomes RNA (AUGC)
what is translation?
RNA to protein
starts with AUG and ends with a stop codon
how many codons are there?
64
how many amino acids are there?
20
what is a polymorphism?
a sequence variation at the same position of homologous chromosomes (diploid genome)
