Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

genomics > quiz 1 > Flashcards

quiz 1 Flashcards

1
Q

Pharmacogenomics is the study of the impact of — on medication response.

A

genetic polymorphisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

While the discovery of genetic contributions to medication response dates back to the —, interest in clinical pharmacogenomics began in earnest with the sequencing of the human genome in —–

A
  • 1950s
  • 2003
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

The International HapMap Project followed the Human Genome Project and aimed to identify common patterns of heritability, called —-, in the human genome.

A

haplotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

AUTOSOME (AUTOSOMAL)—any chromosome other than the

A

sex chromosomes or the mitochondrial DNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

genome is the total genetic material contained within the chromosomes of an organism. In humans —— make up the genome, and almost all cells contain an entire copy of the genome

A

46 chromosomes (23 pairs of chromosomes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Survey of several genetic variants in different individuals to study if there is an association with traits such as disease susceptibility or how individuals respond to certain drugs.

A

GENOME-WIDE ASSOCIATION STUDY (GWAS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Any genetic variation in the DNA sequence is called

A

Polymorphism/variant- the terms can be used interchangeably.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Humans have two different genomes:
-a nuclear genome (— base pairs)
-a mitochondrial genome (— base pairs)

A
  • ~3.2 billion
  • ~16,500
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Human genome contains about – to – genes

A

19,000 to 20,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

– % of the genetic makeup of human beings is the same
– % variation that makes each individual unique

A

99.9%
0.1%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

—- Statement on the Pharmacists Role in Clinical Pharmacogenomics

A

ASHP Statement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

DNA for genotyping can theoretically be obtained from any nucleated cell in the body
Most common sources:
- ?
- ?
Other methods include:
- ?
- ?

A

-Buccal swabs
-Blood samples to isolate lymphocytes
Other methods include:
-Saliva samples
-Skin biopsies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

hereditary genetic variations are called:

A

germline mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Acquired genetic variations are called:

A

somatic mutations
- they CANNOT be passed to the next generation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

The influence of heredity on medication response was demonstrated as early as 1956 with the discovery that an inherited deficiency of glucose6phosphate dehydrogenase (G6PD) was responsible for hemolytic reactions to the —- drug.

A

antimalarial drug primaquine.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Pharmacogenomic variations have a——-inheritance pattern

A

germline/hereditary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Most pharmacogenes expressions are —-

A

co-dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Function of both alleles of the gene make up a person’s —–

A

phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

before Human Genome Project, which location was used to locate pharmacogene ?

A

Cytogenetic location:
-for example chromosome 4
short arm: 4p
long arm: 4q

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

The Human Genome Project, an international research effort completed in —, determined the ——- for each human chromosome.

A
  • 2003
  • sequence of nucleotides

-This sequence information allows researchers to provide a more specific address than the cytogenetic location for many genes.
so cytogenic location is LESS SPECIFIC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

A gene’s molecular address pinpoints the:

A
  • location of that gene in terms of nucleotides.
  • the gene’s precise position on a chromosome.
  • the size of the gene.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Mendel’s work suggested that ——

A

just two alleles existed for each gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

which testing platform is used for next-generation sequencing

A

Whole Genome Sequencing (WGS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

which testing platform is used for identifying Single Nucleotide Polymorphism (SNP) and other variation

A

Variant specific testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

what are the 4 pharmacogenomic resources

A
  • US FDA medication labels.
  • CPIC guidelines (clinical pharmacogenetics implementation consortium)
  • pharmacogenomics knowledgebase.
  • pharmacogene variation consortium
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

DNA and RNA are polymers composed of long strands of similar units (nucleotides) connected to each other via —- bonds

A

covalent phosphodiester bonds

27
Q

Primes are used in the numbering of the ring positions in the — to differentiate them from the ring positions of the —–.

A
  • sugars
  • bases
28
Q

Both sugars (ribose and deoxyribose) have an —- as a member of the five-member ring

A

oxygen

29
Q
  • the —carbon is outside the ring.
    -The sugars differ only in the presence or absence (“deoxy”) of an oxygen in the – position.
A

-5′
-2′
-This minor distinction between RNA and DNA dramatically influences their function.

30
Q

Two DNA strands are held together by bonds between —-.

A

nucleotide bases
(nucleotide nitrogenous bases)

31
Q

One of the forces holding the two strands together are —- bonds formed between the nucleotide bases of the opposite strands called base pairs.

A

-hydrogen
-(A and T form two and C and G form three hydrogen bonds).

32
Q

Genomic DNA (gDNA) is associated with many proteins, among them —- that help organize these macromolecules into chromosomes.

A

histones

33
Q

The phosphate functional group (PO4) gives DNA and RNA the property of an —

A

acid (a substance that releases an H+ ion or proton in solution) at physiological pH, hence the name “nucleic acid.”

34
Q

The linking bonds that are formed from phosphates are — that have the property of being stable

A

esters
(phosphodiester bonds).

35
Q

what are differences between nucleosides and nucleotides ?

A

nucleoside does not have a phosphate, only sugar and base.

36
Q

The basic unit of DNA is a

A

deoxyribonucleotide.

37
Q
  • The symbol 5′ refers to the carbon in the sugar to which a phosphate (PO4)
    functional group is attached.
  • The symbol 3′ refers to the carbon in the sugar ring to which a hydroxyl (OH) functional group is attached.
A
  • 5’ phosphate (PO4)
  • 3’ hydroxyl (OH)
38
Q

The asymmetry of the ends of a DNA strand implies that each strand has a
—- determined by which end bears the 5′-phosphate and which end bears
the 3′-hydroxyl group.

A
  • polarity
  • This 5′ → 3′ directionality of a nucleic acid strand is an extremely important property of the molecule.
39
Q

DNA sequence is written with the 5′ end to the –, and the 3′ end to the —. This is also the direction of synthesis

A
  • left
  • right
40
Q

A 5′OH of one deoxyribonucleotide unit binds to the 3′OH of another unit via a

A

phosphodiester bond

41
Q

new strand of DNA is synthesized from ——-(directions), Nucleotides are added one at a time to the ——–end of the DNA chain, forming new phosphodiester bonds.

A

5′ to 3′
-3′ hydroxyl end

42
Q

Deoxynucleoside 5′ triphosphates (dNTPs) are the building blocks. The terminal two phosphates are lost in the reaction, making the reaction essentially ——–

A

irreversible

43
Q

The number of —– is used as a measure of length of a double-stranded DNA.

A

base pairs (bp)

44
Q

In practice, the unit of length used for DNA is the
—–, corresponding to 1000 base pairs, or the ———–corresponding to 1,000,000 base pairs

A

-kilobase pair (kb or kbp)
-megabase pair (Mb or Mbp)

45
Q

DNA polymerase can catalyze the formation of a phosphodiester bond between the first —- group of a NEW dNTP and the ——- group of the LAST nucleotide in the newly synthesized strand.

A
  • 5′-phosphate
  • 3′-hydroxyl
  • it canNOT work in the opposite.
46
Q

DNA polymerases catalyze the synthesis of new DNA strands by adding a complementary nucleotide to the ——- group on the – end of the growing DNA strand, and they also correct errors that occur during DNA synthesis.

A

hydroxyl group on the 3′ end

47
Q

– Mitochondria have a small amount of their own DNA: mitochondrial DNA (mtDNA)
Small: ~16,500 DNA base pairs
37 genes:
-13 genes provide instructions for making ENZYMES involved in ——–
-24 genes provide instructions for making ———.

A
  • oxidative phosphorylation.
  • tRNA, rRNA
48
Q

—– are the basic unit of heredity and play a role in determining most characteristics of an organism.

A

genes

48
Q

—– are the basic unit of heredity and play a role in determining most characteristics of an organism.

A

genes

48
Q

—– are the basic unit of heredity and play a role in determining most characteristics of an organism.

A

genes

48
Q

—– are the basic unit of heredity and play a role in determining most characteristics of an organism.

A

genes

49
Q

Most multicellular organisms possess—- of each chromosome.

A

two copies

50
Q

The number of human protein-coding genes is estimated to range between — and —–

A

20,000 and 25,000.

51
Q

During DNA — and —, the strands of the helix must separate transiently and reversibly.

A

replication and transcription

52
Q

DNA replication is termed ——- as each newly synthesized double stranded DNA is made of one old and one new strand of DNA.

A

semi-conservative

53
Q
  • Several proteins and enzymes participate in DNA replication, including ——— enzymes that are equipped with proofreading and repair systems.
  • what enzyme is responsible for transcription of genes ?
A
  • DNA polymerases (REPLICATION)
  • RNA Polymerase (TRANSCRIPTION)
54
Q

Nucleotide sequence located upstream of a gene: what is it called?

A

Promoter region: Where RNA polymerase binds at the 5’ UPSTREAM to start the transcription of a gene

55
Q

Transcription and translation are known as ————-

A

gene expression

56
Q

genes also have regulatory sequences located before or upstream (5′) of the coding sequence called ———, and after or downstream (3′) of the coding sequence called ——-. These untranslated regions are transcribed into mRNA but are not translated into amino acids

A
  • 5′ untranslated region (5′ UTR)
  • 3′ untranslated region (3′ UTR)
57
Q

ribosomes are made of —%protein and —%RNA.

A

-30 - 40% protein
-60 - 70% rRNA

58
Q

The way the codons are read depends on the first nucleotide that is read in the sequence, and each of the three possible ways of reading a nucleotide sequence is a ——

A

reading frame

59
Q

——— gene codes for the —— enzyme which is responsible for the metabolism ~10% of drugs currently in clinical use

A

CYP2C19

60
Q

examples of drugs metabolized by CYP2C19

A

clopidogrel and voriconazole

genomics (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions