Pharmacogenomics Test 1

Front 1

any characteristic that can be passed from parent to offspring

Back 1

trait

Front 2

passing of traits from parent to offspring

Back 2

heredity

Front 3

a linear sequence of genes on a strand of DNA

Back 3

chromosome

Front 4

the position of an allele on a chromosome

Back 4

locus

Front 5

two forms of a gene

Back 5

allele

Front 6

stronger of two genes expressed in the hybrid (capital R)

Back 6

dominant gene

Front 7

gene that shows up less often in a cross; represented by lower case r

Back 7

recessive gene

Front 8

gene combination for a trait

Back 8

genotype

Front 9

the physical feature resulting from a genotype

Back 9

phenotype

Front 10

presence of two identical alleles at a given chromosomal locus

Back 10

homozygous

Front 11

presence of two different alleles at a given chromosomal locus

Back 11

heterozygous

Front 12

cross involving a single trait

Back 12

monohybrid cross

Front 13

cross involving two traits

Back 13

dihybrid cross

Front 14

what goes on the axis of monohybrid cross

Back 14

heterozygous (Rr) X heterozygous (Rr)

Front 15

Parent generation of monohybrid cross called what? offspring gen called what?

Back 15

F1 generation; F2 generation

Front 16

Give proof for Mendel's law of dominance

Back 16

RR X rr = 100% dominant phenotype

Front 17

Give proof of Mendel's law of segregation

Back 17

Rr X Rr = 75% dominant phenotype and 25% recessive phenotype

Front 18

Give proof of Mendel's law of independent assortment

Back 18

RrYy X RrYy= 9:3:3:1 phenotype

Front 19

genes are present on ___(#) pairs of strands of DNA molecules

Back 19

23

Front 20

what is a multigenic trait? give ex

Back 20

more than one gene encodes for phenotype (diabetes)

Front 21

What is meant by quantitative trait? give example

Back 21

traits that vary in the extent to which they are expressed in each individual (height, weight)

Front 22

when not every individual who has the genotype expresses the phenotype

Back 22

incomplete penetrance (this is an exception to inheritance)

Front 23

what is meant by multifactorial trait? give example

Back 23

both environmental and genetic components. (hemochromatosis)

Front 24

Explain co-dominance. What is it an example of?

Back 24

when both alleles are expressed in the heterozygote (like in blood groups). example of an exception to mendel's law

Front 25

Sex-linked inheritance is an example of what?

Back 25

an exception to mendel's law

Front 26

explain mitochondrial inheritance. what is this an example of?

Back 26

in addition to th 23 chromosomes found within the cell's nucleus, other genetic material is found in mitochondrial chromosomes. ONLY MOTHER MITOCHONDRIAL CHROMOSOME is inherited (bc girls rock). this is an exception to mendel's law.

Front 27

when genes are only expressed from a chromosome originating in one of the parents, due to silencing of other chromosomes

Back 27

genetic imprinting (another exception to mendel's law)

Front 28

both copies of each chromosome come from a single parent

Back 28

uniparental disomy (an exception to mendel's law)

Front 29

the severity of the genotype increases from genertaion to generation. give example

Back 29

genetic anticipation (triplet repeat expansion)

Front 30

explain Hardy-Weinberg

Back 30

for a stable (non-evolving) population, the allele and genotype frequencies are constant from gen to gen (p2+2pq+q2=1)

Front 31

true or false. pedigree analysis is used to determine the pattern of inheritance of traits in humans.

Back 31

true

Front 32

which mode of inheritance?

Back 32

autosomal recessive

Front 33

which type inheritance?

Back 33

autosomal dominant

Front 34

which mode inheritance?

Back 34

x-linked recessive

Front 35

what type of disorder is CF?

Back 35

recessive

Front 36

How many caucasians are carriers of CF?

Back 36

3%

Front 37

explain the normal vs mutated gene inCF

Back 37

normal= normal protein, cycstic fibrosis transmembrane conductance regulator (CFTR) regulates ion transport across cell membranes.

mutated: CFTR causes ion imbalance which leads to abnormalities in the pancreas, skin, intestine, sweat glands, and lungs

Front 38

A recessive pattern of inheritance means that ___% of offspring will get gene if both parents heterozygous.

If both parents infected (rr), what % will have gene?

Back 38

25%; 100%

Front 39

dominant or recessive?
an affected individual will have inheritied the gene from at least one affected parent

Back 39

dominant

Front 40

dominant or recessive?
the disease may have been the result of a new mutation that occurred during gamete formation

Back 40

dominant

Front 41

what makes studying genetics in humans so complicated?

Back 41

so many variations! are, height, weight, gender, ethnicity, environmentla factors, etc

(animal studies are much easier to control!)

Front 42

Which type of study design?

uses patients who already have a phenotype and look back to see if there are genotype characteristics of these patients that differ from those who don't have the outcome.

Back 42

case control

Front 43

Which type study design

uses patients who have a purported genotype and look forward to see if there are resulting phenotypic characteristics that differ from those who don;t have the genotype

Back 43

cohort

Front 44

Which type study design

relates the phenotype and genotype characteristics of the parents to the phenotype and genotype characteristics of hte offspring to detect specific phenotypes that occur more frequently in offspring with a specific genotype.

Back 44

trio

Front 45

the study of how genes encode the structure and function of living things from the level of the individual molecules to that of organisms

Back 45

molecular biology

Front 46

true or false?

all genes encode for proteins?

Back 46

false (tRNA, rRNA, miRNA)

Front 47

using genetic information to predict whether a drug will help make a ptient well or ill

Back 47

pharmacogenomics

Front 48

the study to genetic influences on an individual's respons to drugs. involves the analysis of a specific gene or group of genes may be used to predict responses to a specific drug or drug class

Back 48

pharmacogenetics

Front 49

study of genetic influences that applies all the genes. May be used to search for novel drug targets and/or key determininants of drug rxns.

Back 49

pharmagenomics

Front 50

What different responses can different indiviudals have to the same drug?

Back 50

full response
partial response
no response
severe adverse reaction

Front 51

describe the factors that influence the variation in drug response

Back 51

gender
body mass
age
environmental factors
disease
genetic factors
diet
co-medicatino

Front 52

how many constant base pairs are present in the human genome? How many variable? how many capture the full human variation? How many cpharmaceutically sign?

Back 52

2.9 billion
3 million
100,000
<10,000

Front 53

explain the current impact of pharmacogenomics

Back 53

1. Broadly adopted in the area of drug discovery (by both private and public companies)

2. Called the future of medicine (personalized medicine)

Front 54

Name four future trends in pharmacogenomics.

Back 54

1. Point of care (doctor's office/pharmacy) genetic testing
2. population screening
3. population sequencing
4. personal genomics

Front 55

which field studies the rules governing variation?

Back 55

genetics

Front 56

which field studies how gene encodes traits?

Back 56

molecular biology

Front 57

which field studies gene organization?

Back 57

genomics

Front 58

How many genes are there?

Back 58

30,000-50,000

Front 59

which field studies how drugs exert their effect on the body (studies how drugs interact with cellular molecules and act by inhibiting or stimulating the "target" molecule?

Back 59

pharmacology

Front 60

which field studies how drug transport and distribution in the body influences drug efficacy and toxicity?

Back 60

pharmaceutics

Front 61

which field studies the ability of a drug to make a person sick?

Back 61

toxicology

Front 62

which field studies gene combinations as they exist in the human population, how they arose, and how they spread?

Back 62

population biology

Front 63

tru or false?

drugs act because of their ability to affect the health of the human population, not of the individuals.

Back 63

true

Front 64

which fiels studies the characteristics of a very large group of objects or individuals based upon a random sample of objects or individuals obtained from that group. (the probability that a drug will have a beneficial effect on a large # of ppl can be predicted based on a controlled trial with a smaller #)

Back 64

statistics

Front 65

why is pharmacogenomics important to the pharmacist?

Back 65

1. new patient expectations
2. new doctor's expectations
3. new technology
4. new job responsibilities
5. new market trends
6. more business