The flashcards below were created by user
Anonymous
on FreezingBlue Flashcards.
-
Receptors exist in
3 different forms
-
-
The term pharmacogenomics was termed in
1959
-
Human genome project
- project to map the human genome
- >26,000 genes
-
GWAS
genome wide association studies
-
Goals for personalized medicine
- identify genetic differences in people that affect drug response
- develope genetic tests that predict an individual's response to a drug
- tailor treatments to the individual
-
Pharmacogenetics
evaluation of how an individual's genetic make-up corresponds to their response to a medication
-
Pharmacogenomics
- combines pharmacogenetics with genomic studies
- uses large groups of patients to evaluate how candidate drugs interact with a range of genes and their protein products
-
A combination of alleles (for different genes) that are located closely together on the same chromosome and that tend to be inherited together
Haplotype
-
_____ are those expressed in DNA sequences that become the mRNA
Exons
-
A___ is found in the cell nucleus and consists of one very long DNA molecule and associated proteins
Chromosome
-
The exchange of one nucleotide for another. Considered the most common genetic variation in human DNA, occurring approximately once in every 300 base pairs.
Single nucleotide polymorphism
-
A double-stranded, helical nucleic acid molecule capable of replicating and determining the inherited structure of a cell's proteins
DNA
-
Genetic variations that occur at a frequency of at least 1% in the human population
polymorphisms
-
_____ are those intervening sequences of DNA that are removed in the process of making a mature mRNA.
introns
-
The genetic makeup of an organism
Genotype
-
a section of DNA or RNA that is 3 nucleotide pairs in length that codes for a single amino acid.
codon
-
physiological trains of an organism
phenotype
-
alternate version of a gene
allele
-
a rare (occurs in <1% of the population) change in the DNA of a gene ultimately creating genetic diversity.
mutation
-
A unit of heredity in a living organism
Gene
-
Percentage of our DNA that is the same as a monkey
93%
-
Percentage of our DNA that is the same in humans
99.5%
-
If all DNA in the body is streched out it is
6 ft long
-
Why do we care so much about proteins?
- essential components of living cells
- necessary for building and repair of body tissues
- drug transporters
- metabolic enzymes
- receptors
-
Alternative versions of genes are
alleles
-
DNA at a specific location can vary in nucleotide sequence meaning it varies in
genotype
-
Percentage of DNA that is "junk DNA" or introns which regulate transcription
95%
-
Percentage of DNA that is exons or expressed traits
5%
-
Single nucleotide polymorphism (SNPs)
- most abundant type of genetic variation
- ~1 SNP in every 300-500 bp
- ~10,000,000 SNPs in the human genome
-
Number of SNPs in the coding DNA (exons)
500,000
-
Mechanisms by which SNPs may affect genes even if located in introns
- DNA stability
- Folding/unfolding
- gene spacing
-
Other types of polymorphisms
- more than one nucleotide change
- entire gene insertion or deletion
- extra copies of a gene
-
Types of Genetic variations
- Insertion
- deletion
- base pair change
-
how are SNPs relevent to a pharmacist?
- SNP change the amount/function of a protein that contributes to drug response
- may alter pt sensitivity to a drug
- may cause adverse reactions to a drug
-
Polymorphism with no effect
- no change in translated amino acid
- codon encodes for the same amino acid
- corruption of the genetic code
- no functional significance of amino acid substitution
-
Minimal effect polymorphism
amino acid substitution results in minimal differences in protein structure or function
-
significant effect of polymorphism
- amino acid substitution results in significantly altered protein structure or function
- altered substrate affinity of CYP450 enzyme
-
Systems for pharmacogenomic nomenclature
- allele numeric/alphabetic
- SNP nomenclature
- allele "star"nomenclature
- genotype nomenclature
- haplotype nomenclature
-
What is an allele?
- variant and wild type forms of a gene at a particular location on a chormosome
- each nucleotide base in the gene can be considered an allele
-
Allele numeric/alphabetic nomenclature
VKORC11173C
- first letters/numbers are the gene
- numbers indicate the location on the nucleotide
- C and T represents a nucleotide
-
SNP nomenclature
VKORC1 1173 C>T
- easiest to understand
- letters = gene
- numbers = nucleotide
- first letter = original nucleotide
- second letter = change that was made
-
Allele "star" nomenclature CYP2C19*1
- first letters identify the gene
- * and number after designate the allele
-
CYP2C19*1 allele
normal or wilde type enzyme activity
-
CYP2C19*2 allele
= no enzymatic activity
-
CYP2C19*3 allele
no enzymatic activity
-
CYP2C9*1
normal wild type enzyme activity
-
CYP2C9*2
decreased enzymatic activity
-
CYP2C9*3
decreased activity
-
An example of a SNP is the VKORC1 1173 C>T. Based on the pharmacogenomic nomenclature of this SNP, what is the gene of interest?
A.VKORC1
B. Thymine
C. 1173
D.Cytosine
A. VKORC1 (this multiple choice question has been scrambled)
-
What is a genotype?
2 alleles that any individual has
-
If you see *#/*# then
we are looking deeper to find if there is a difference in the genotype
-
What is a haplotype?
a set of alleles at multiple locations that coexist on the same chromosome
-
Synonymous SNP
results in the same amino acid being transcribed
-
Non-synonymous SNPs
result in amino acid substitution
-
A polymorphism has been found for a drug-metabolizing enzyme. A nucleotide change occurs, yet the resultant amino acid is unchanged. What type of SNP is this?
A. Non-synonymous
B. Premature stop codon
C. Synonymous
D. Gene deletion
C. Synonymous (this multiple choice question has been scrambled)
-
A polymorphism has been found for a drug metabolizing enzyme. A nucleotide change occurs, resulting in a change in the amino acid. What type of SNP is this?
A. Synonymous
B. Gene deletion
C. Premature Stop Codon
D. Non-synonymous
D. Non-synonymous (this multiple choice question has been scrambled)
-
When patients have haplotype 7 & 2 they have a reduction in response to statins by
25%
-
What is the ultimate goal of pharmacogenetics
use genetic info to choose a drug, dose and treatment duration best for the patient
|
|