EXAM 1 Flashcards
what is an actionable signature?
information used to make a treatment decision
FDA has approved ___ pharmacogenomic drug labels as of 2018
150
how many entries for FDA drug labels in 2020 and 2023
385 and 517
polymorphisms that determine 50% of dose variance in warfarin patients
VKOCR1, CYP2C9, CYP4F2
pharmacokinetics
what body does to drug: absorption, distribution, metabolism, excretion (ADME)
pharmacodynamics
what drug does to body: receptor, target, signaling, enzymes
pharmacists role
RDEC - recommend testing, design drug regimens, educate, communicate therapy reccomendations
DNA bases
adenine
thymine
guanine
cytosine
DNA structure?
anti parallel
A-T how many hydrogen bonds?
2
G-C how many hydrogen bonds?
3
genome
organisms complete set of DNA (all info needed to build and maintain organism)
how many DNA base pairs in genome?
3 billion
kilobase = ____ bp
1000
megabase = ____ bp
1 million
how many genes in genome
about 21,000
gene
sequence of DNA/RNA that code for a molecule that has a function
genes size
a few hundred DNA bases to 2 million
protein coding genes
genes expressed to be proteins
how much of the genome are protein coding genes?
1-3%
what do micoRNAs do?
important role in regulating protein coding gene expression
on average how many exons/introns per gene?
8.8 exons, 7.8 introns
professors favorite gene
SCN2A
green part
flanking sequence
red part
UTR
blue part
translated sequence, where it begins
human genome: chromosome, autosome number
46 chromosomes, 23 autosomes, 1 pair of sex chromosomes
karyotype
complete picture of the genome in a cell
haploid genome represents
chromosomes from each parents
diploid genome represents
23 from each parent put together
central dogma
DNA-RNA-protein
replication-transcription-translation
reverse transcription-RNA replication-prion
coronavirus is in which stage
RNA replication
what happens in transcription
mRNA maturation process, promoter and introns cut, poly A tail
where is DNA and mRNA precursor located?
nucleus
where is matured mRNA located?
cytoplasm
thymine in DNA = ___ in RNA
uracil (U)
what happens in translation?
matured mRNA becomes protein
protein starts with ____
AUG - methionine
stop codons are
UAA, UGA, UAG
what includes the open reading frame or DNA coding sequence?
AUG to codon before stop codon
how many codons are there?
64
how many amino acids are there?
20
what is a sequence variation?
polymorphism
where is a polymorphism?
at the same position of homologous chromosomes (diploid genome)
polymorphisms are not in single germ cell, _____ genome
haploid
what is a genotype?
combination of alleles at the same locus of homologous chromosomes in a genome (T/C)
homozygote alleles
identical, T/T
heterozygote alleles
different, T/C
hemizygous
one allele missing
also is heterozygous
Mendels Law
each parent passes a randomly selected allele (one of the two chromosomes) to offspring
most common type of polymorphism
SNP
non-synonymous SNP
changes the amino acid
missense SNP
changes amino acid (loss of function or gain of function)
nonsense SNP
changes amino acid to stop (loss of function)
synonymous SNP
does not change amino acid, doesn’t change function
copy number variation
DNA region with 0 to n copies in a populaition