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Pharmacogenomics > Test #1 > Flashcards

Test #1 Flashcards

1
Q

What is the difference in Nucleic acid location between Prokaryotes and Eukaryotes?

A

Prokaryotes: No nucleus so it is in cytoplasm

Eukaryotes: In Nucleus

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2
Q

How do viruses replicate?

A

Can use DNA and RNA as genetic material: utilizing reverse transcription to produce more offspring using a cells machinery

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3
Q

What is the structure of Nucloetides?

A

-5 Carbon sugar:(DNA no O, RNA Oxygen)
-nitrogenous base covalently attached to sugar
-Phosphate group covalently attached to sugar

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4
Q

What is the difference in base pairing between RNA and DNA

A

DNA: AU GC
RNA: AT CG

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5
Q

What is the primary structure of nucleic acid?

A

-Order of nucleotides in a polymer: encodes for genetic information

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6
Q

What direction do you always read genes?

A

5’>3’

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7
Q

What is the secondary structure of Nucleic acid?

A

DNA: Antiparallel chains
-Complementary base pairing

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8
Q

What is the most common conformation of DNA?

A

B-formation
-Right handed
-10 BP per turn

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9
Q

What kind of forces stabalizes DNA?

A

-Hydrogen Bonding
-Stacking interaction: Hydrophobic interactions(MAJOR)
-ionic interactions

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10
Q

What is the response of DNA vs RNA to the alkali effect?

A

DNA: stays in tact
RNA: Degrades

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11
Q

UV spectrum
What does DNA denaturation lead to?
How does GC content impact TM

A

DNA denaturation leads to decreased viscosity and increased absorbance

higher GC content leads to higher TM and higher TM= more stable

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12
Q

What are Chromatin/Chromosome

A

-Chromatin is a complex of DNA, histone proteins, and other proteins found within the nucleus of a eukaryotic cell
-Histones: + charged
-basic repeating unit of chromatin is the nucleosome, which consists of DNA wrapped around a core of histone proteins. Nucleosomes are connected by linker DNA and additional histone proteins, forming higher-order chromatin structures

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13
Q

How is nucleic acid packed in Prokaryotes?

A

Type I and II topoisomerases
- Type I: One strand broke
-Type II: Gyrase: both strands broke

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14
Q

What are nucleosomes

A

Basic unit of DNA packaging in eukaryotes: Neg charged DNA wrapped around Pos Charged Histones
-Nucleosome: 200 bp
-Histone octamer core: equal number of H2A, H2B, H3, and H4
-DNA wrapped around histone core: 146 bp: rest is linker DNA

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15
Q

What does linker DNA do?

How does it interact with Histone H1

A

Links neighboring Nucleosomes
-About 50bp

Histone H1 binds to linker DNA which helps stabalize the chromosome structure

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16
Q

What are the Phases of DNA growth?

A

G1(growth and metabolism): DNA=2n
S(DNA replication): 2n>4n
G2(prep for cell division: DNA= 4n
M(mitosis): 4n>2n

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17
Q

Euchromatin vs heterochromatin

A

euchromatin: Spread out ready for replication

Heterochromatin: Densely packed: not active for gene expression

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18
Q

What are genes?

A

Sequence of nucleotides that codes for molecule, polypeptide or, RNA molecule

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19
Q

What is the regulatory region on genes?

What is the intergenic region on genes?

A

Regulatory regoin -contain various DNA sequences, such as promoters, enhancers, silencers, and transcription factor binding sites, which interact with regulatory proteins to modulate the activity of nearby genes.

Intergenic region-lie between genes on a chromosome and do not contain any protein-coding sequences (exons: needed for gene expression)

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20
Q

What are the three types of RNA and their uses:

A

MRNA: Complementary to DNA base pairs that determines order of AA in a protein

rRNA: forms part of ribosome- helps translate mRNA into protein

tRNA: help decodes mRNA into a protein
Has anticodon that binds to complementary mRNA making sure correct protein is synthesized

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21
Q

What are the regoins of mRNA and how do they differ in Prokaryotes and Eukaryotes?

A

Leader- 5’cap
Coding regoin
Trailer- Poly A tail

Prokaryotes have no 5’ cap

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22
Q

What are the three rules of DNA replication?

A

Semi-conservative
-Offspring have one parental and one new strand
semi-discontinuous
bi-directional

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23
Q

What do Helicase and Topoisomerase do?

A

Unwind DNA

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24
Q

How does replication differ between Leading and lagging strand?

A

Leading strand: continuous towards replication fork

Lagging strand: discontinuous : Okazaki fragmentsw

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25
Q

What is required for DNA replication?

A

DNA polymerase
-adds nucleotides to the growing DNA strand using the existing template strand as a guide

DNA template

DNTPs

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26
Q

How does replication start in prokaryotes?
-Where does it occurr?

A

DnaA inititates
-Start at the origin and proceed in both directions
-Occurs in cytosol
-Topoisomerase and Helicase unwind

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27
Q

How does DNA replication start in Eukaryotes?

A

-DNA Polymerase a/Primase Complex initiates
-During S-phase in nucleus
-Multiple replication origins

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28
Q

What is needed for Eukaryotes to replicate DNA?

A

-there must be RNA primers
-Primase produces these primers

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29
Q

what is the function of Polymerase I in prokaryotes?

A

Remove RNA primers with RnaseH and replace with DNA: synthesis of the lagging strand
-Seal with DNA ligase
-Repair Damaged DNA
-t 1/10000bp errors

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30
Q

What is the function of Polymerase III in prokaryotes?

A

major replicase- required for synthesis
-Does the majority of elongation
-Leading strand
-three subunits: a (the polymerase); ε (the 3’–
5’ exonuclease); and θ (the stimulator of the 3’–5’ exonuclease). The τ subunit is responsible for the dimerization of the core DNA polymerase.

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31
Q

What is the function of Polymerase A in eukaryotes?

A

-DNA polymerase-α is mainly involved in the initiation of the synthesis of the leading strand and the lagging strand
-Associated with primase
-DNA polymerase-α has 5’ to 3’ polymerase activity but lacks 3’ to 5’ exonuclease activity
-synthesize a 7 to 10 bp RNA primer and then
extend it with an additional 15 or so dNTP, which is called initiator DNA.

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32
Q

What is the function of polymerase D in eukaryotes?

A

-DNA polymerase-δ is mainly involved in the lagging strand synthesis
DNA polymerase-δ has 5’ to 3’ polymerase activity and 3’
to 5’ exonuclease activity, so it proofreads
-does not associate with primase
-requires a sliding-clamp protein called PCNA (Proliferating Cell Nuclear Antigen) and RFC (replication factor C, a clamp loader).

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33
Q

What is the function of Polymerase E in eukaryotes?

A

-DNA polymerase-ε is mainly involved in leading strand synthesis
-has 5’ to 3’ polymerase activity and 3’
to 5’ exonuclease activity, so it proofreads
-does not associate with primase and does
not require PCNA

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34
Q

How is DNA replication terminated in prokaryotes?

A

Terminates at specific sites which are polar and arrest
replication forks

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35
Q

How is DNA replication terminated in Eukaryotes?

A

-Primer removed:RNase H1 & flap endonuclease-1
-Nucleosome repackaged
-Telomere capping
-Protection of the end of the chromosomes. The
telomeres are consumed during cell division.
-Separation of one chromosome from another to
prevent chromosome fusion and massive genomic
instability

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36
Q

What are telomeres

Are they found in both prokaryotes and eukaryotes?

A

-Telomeres protect the ends of chromosomes from degradation, fusion, and recognition as DNA damage
-Only found in eukaryotes
-Telomerase is a specialized enzyme that can elongate telomeres by adding repetitive DNA sequences to chromosome ends
- telomerase is active in germ cells, stem cells, and the vast majority of cancer cells ( Not active in normal healthy adults)

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37
Q

What removes RNA primases in prokaryotes vs eukaryotes?

A
  • Prokaryotes:DNA polymerase
    -Eukaryotes: RNase H and other RNase
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38
Q

What can remove damaged DNA from humans via Direct correction?

A

Plants have photolyase that can directly repair, but humans
do not
-Endo/Exo nucleases can remove damaged DNA in humans

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39
Q

What is needed for excision repair?

A

Glycosylate
glycosylase cleaves the glycosidic bond between the altered base and ribose.
- In nucleotide excision repair, the entire nucleotide is
removed at once. The gap formed by the incision
(cut) and excision (removal) of endonucleases is usually several nucleotides wide

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40
Q

What is TERT used for?

A

Telomerase reverse
transcriptase (TERT) uses RNA
as a template to elongate
and maintain eukaryotic
chromosome ends

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41
Q

What is retrotranspositional

A

In retrotransposition, an RNA intermediate is
reverse-transcribed to insert DNA copies into
other areas of the genome

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42
Q

What are the major similarities and differences between replication and transcription?

A

Similarities:
* Requires template
* Form phosphodiester bond
Differences: Transcription
* Does not require primer
* Lack 3’ to 5’ exonuclease activity
* More errors

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43
Q

where does transcription start?

A

-Promoter regoin
The start point for the transcription of each
gene (promoter region)
* Upstream of coding region
* Each gene has own promoter

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44
Q

What is the promoter region?

A

Promoter is a DNA sequence that specifies the
transcription initiation site and contains consensus
sequences needed for transcription

45
Q

What is needed for Prokaryotic Transcription?

A
  • DNA with promoters
  • A single RNA polymerase (RNAP) holoenzyme to generate all of the different types of RNA : α2ββ′ωσ
  • Nucleoside triphosphates (NTPs)
    -σ (sigma) factor binds the core enzyme and
    directs binding of RNA polymerase to specific
    promoter regions of the DNA template.
46
Q

What is the importance of the sigma of the promoter region

Are they in eukaryotes or prokaryotes?

A

Found in prokaryotes
Initiation requires the formation of a transcription bubble
* Binding of RNA polymerase with a σ factor to the promoter region of DNA causes the two DNA strands to unwind and separate and form transcription bubble.

47
Q

What is needed to start transcription in Eukaryotes?

A
  • DNA with promoters
  • RNA polymerase (3 RNA Polymerases in
    Eukaryotes)
  • Nucleoside triphosphates (NTPs)
  • Transcription factors (replace σ)
48
Q

Function of TFIID, TBP,TAFs in eukaryotic transcription initiation

A

recognize TATA box: recruit TFIIA and TFIIB: pos and neg regulatoy function

49
Q

What is needed for transcription elongation in prokaryotes?

A
  • Requirements:
  • dsDNA (single DNA strand template)
  • RNAP core enzyme - α2ββ′ω
  • Nucleoside triphosphates (NTPs)
  • Topoisomerases
  • Acts like a gyrase (removing H-bonds)
  • NO Helicase (RNA Polymerase has this
    activity)
  • The elongation reactions continue until
    the RNA polymerase encounters a
    transcription termination signal.
  • Higher error rate but tolerable
50
Q

What is needed for transcription elongation in eukaryotes?

A
  • The TATA-binding protein (TBP), a
    component of TFIID, binds to the TATA
    box.
  • Transcription factors TFIIA and -B bind to
    TBP.
  • RNA polymerase binds, and then TFIIE, -F,
    and -H bind.
  • This complex can transcribe at a basal level
  • Higher error rate but tolerable
51
Q

What is needed for the termination of transcription in Prokaryotes?

A

Prokaryotes
* Requirements
* Rho (ρ) dependent
-p binds to C-rich regoins: contact bw Rho and RNA polymerase terminates transcription
* Rho (ρ) independent (intrinsic)
* Hairpin structure forms + U’s to
cause release
Copyright © Wolters Kluwer

52
Q

When is transcription stopped in Eukaryotes?

A

Eukaryotes
* Transcription continues beyond the end of the coding
sequence
* Not well-defined termination signals
* Polyadenylation signal (AAUAAA) appears to be
important

53
Q

How are post-transcriptional modifications done in prokaryotes?

A

Prokaryotes
* Coupled transcription-translation:
mRNA – used immediately in
translation
* Bacterial Operon
* A cistron encodes a single polypeptide
chain. In bacteria, a single promoter may
control transcription of an operon
containing many cistrons.
* A single polycistronic messenger RNA
(mRNA) is transcribed. Its translation
produces several polypeptide chains

54
Q

What are the three major post-translational modifications in eukaryotes?

A

Eukaryotes
* 5’Capping
* Poly-A tail
* Splicing

55
Q

What are the goals of 5’ capping in eukaryotes?

A
  • Protection of mRNAs from digestion
    by 5’ → 3’ exonucleases
  • Part of initiation to elongation switch
  • Enhance translocation of mature
    mRNA from the nucleus to the
    cytoplasm
  • Mark the 5’-end of the mRNA which is
    important for translation initiation
56
Q

What are the goals of synthesizing a Poly-A tail?

A

Function of Polyadenylation
* Transcription termination
* Stability
* Nuclear export
* Translation

57
Q

What are the goals of splicing in eukaryotes?

A

Splicing
* Excision of introns (non-
expressed)
* Joining of exons (expressed)
* A at Intron branch site
* Spliceosome: snRNAs - protein
complexes
* Proceeds from 5’ → 3’ end of transcript
* Process is “co-transcriptional

58
Q

How are rRNA and tRNA formed in prokaryotes?

A

Prokaryotes
* Mature rRNAs and tRNAs are processed from larger transcripts
*One large precursor is cleaved to produce 16S, 23S,and 5S rRNA and some tRNAs

59
Q

how is rRNA formed in Eukaryotes?

A

Eukaryotes
* Maturation of the 45S ribosomal RNA (rRNA) precursor. The clear regions are removed, and the red regions become the mature rRNAs
-5S rRNA is transcribed in the nucleoplasm and moves into the nucleolus. The other rRNAs are transcribed from DNA and mature in the nucleolus, forming the 40S and 60S ribosomal subunits, which migrate to the cytoplasm

60
Q

tRNA
What are the steps before removed from cytoplasm?

A
  • 4 major steps before transport to cytoplasm
  • Cut 5’ and 3’ end
  • Remove introns to form anticodon
  • Nucleotide base Modification
  • Add CCA– (A) is attached to amino acid
  • 2 binding sites
  • Anticodon:recognizes 3 nucleotides and ensures genetic code is translated into correct sequence
  • 3’end: (A) wheramino acid is attached
61
Q

What are the major differences between transcription in eukaryotes and prokaryotes?

A

In eukaryotic cells, the process of transcription, which occurs in the nucleus, is
separated by the nuclear envelope from the process of translation (protein
synthesis from the mRNA template), which occurs in the cytoplasm. Because
prokaryotes lack nuclei, the processes of transcription and translation occur
simultaneously.
* Transcription of bacterial DNA requires only one promoter per operon. In contrast,
human DNA requires one promoter for each gene.
* Eukaryotes have more elaborate mechanisms for processing the transcripts (pre-
mRNA).
* Eukaryotes have three polymerases rather than just the one present in
prokaryotes.
* Generally, the transcripts in prokaryotes do not have introns.
* Coupled transcription-translation does not occur in eukaryotes

62
Q

What is the hypothesis?

A

The third nucleotide in the codon-anticodon interaction can form non-standard or “wobble” base pairs. For instance, the third position of the codon can pair with more than one nucleotide at the corresponding position in the anticodon. This flexibility allows for fewer tRNA molecules to recognize all codons coding for a particular amino acid.

63
Q

What is the purpose of tRNA charging?

A

-Prior to attachment to tRNA, the amino acid is activated through the hydrolysis of ATP to AMP and pyrophosphate. This reaction activates the amino acid, forming an aminoacyl-AMP intermediate
-he activated amino acid is then transferred to the 3’ end of the corresponding tRNA molecule
-ensures the accurate and efficient translation of genetic information from mRNA into proteins during protein synthesis

64
Q

What is needed for the initiation of translation in prokaryotes?

A

-mRNA that is not capped
-30S and 50S ribosomal subunit
-IF1,IF2,IF3
-Charged initiator tRNA (fMET)

65
Q

What is required for the initiation of translation in eukaryotes?

A

-mRNA with start codon
-5’ cap
- Eif3(helps keep subunits separated until ready to bind) and Eif4(helps find 5’ cap)
-40S and 60S ribosomal subunits
-Charged tRNA

66
Q

What is needed for the elongation of translation in prokaryotes?

A
  • 70S Ribosome Complex
  • Aminoacyl-tRNAs
  • Elongation Factors
    o E F -Tu – d e l i v e r s A A - t R N A s ; G T P → G D P
    + P i ( C H A R G I N G )
    o E F -Ts – r e g e n e r a t e s E F -Tu * G T P
    o E F - G – t r a n s l o c a t i o n ; G T P → G D P + P i
  • GTP
67
Q

What is needed for elongation of translation in eukaryotes?

A

Eukar yotes
* 80S Ribosome Complex
* Aminoacyl-tRNAs
* Elongation Factors
o e E F - 1 A - d e l i v e r s A A - t R N A s ; G T P → G D P + P i ( C H A R G I N G )
o e E F - 1 B - r e g e n e r a t e s e E F - 1 A * G T P
o e E F - 2 – t r a n s l o c a t i o n ; G T P → G D P + P i
* GTP

68
Q

What happens during the elongation period of translation?

A

Step 1 – decoding: binding of the AA- tRNA dictated by the next codon to the A site
Step 2 – transpeptidation: formation of
the peptide (amide) bond (P to A site)
- Peptidyltransferase is not a protein but t h e
r R N A o f t h e l a r g e r i b o s o m a l s u b u n i t
Step 3 – translocation (A to P site)
- A>P>E site

69
Q

What stops translation?

A

Stop codons: UAA, UAG, or UGA
* Release Factors bind to the stop codons
* Peptidyl transferase hydrolyzes the bond between the peptide chain and tRNA.
* The newly synthesized polypeptide is released from the ribosome.
* Ribosome dissociates into its individual subunits, releasing the mRNA

70
Q

How is regulation of translation different in Prokaryotes and eukaryotes?

A

Prokaryotes
* Major point of regulation is
at initiation
* Shine-Dalgarno consensus
sequence

  • E u k a r y o t e s
  • m R N A e x p o r t – requires , at a minimum , a 5 ʼ- Cap and a 3 ʼ- poly( A ) - tail :energy-requiring process
  • mRNA stability: length of poly A tail important
  • Negative translation control: binding proteins at 5’ end inhibit initiation
    -Initiation factor phosphorylation: Dec protein synthesis
71
Q

What are Chaperones?

A

Chaperones: proteins that bind to the
nascent polypeptide and mediate the
folding process (protect against
improper interaction)
-assist in the folding and assembly of newly synthesized polypeptide chains into their correct three-dimensional structures
Trigger Factor: ribosome-associated
chaperone known in bacteria and binds
short hydrophobic protein segments

72
Q

what is proteolytic processing?

A

-specific peptide bonds within a protein are cleaved after the protein has been synthesized. This process can generate mature, functional proteins from inactive precursors or proproteins.
-Removal of fMet in prokaryotes

73
Q

The start site is a 3-letter code that recognizes the correct reading frame. What is the 3-letter code?

A

AUG

74
Q

DNA replication has 3 main rules What are they?

A

DNA Replication is semi-conservative

DNA Replication is semi-discontinuous

DNA Replication is bi-directional

75
Q

Every mutation/polymorphisms will cause a change in the protein sequence (T/F)

A

False

76
Q

The tRNA contains an amino acid at its (what arm?) that corresponds to the codon on mRNA with which the anticodon of the tRNA can base-pair

A

3’end arm

77
Q

DNA polymerase needs a primer in order to add on nucleotides to the 5’ end of the DNA (T/F)

A

False

78
Q

Initiation in prokaryotes and eukaryotes have a similarity in their consensus sequence. What is this consensus sequence that both prokaryotes and eukaryotes have?

A

TATA & Prinbow box are similar in stature/nature

79
Q

Acetylation, Methylation and Phosphorylation are what types of modifications?

A

Post-Translational

80
Q

What is the major difference between RNA and DNA polymerase?

A

RNA polymerase does not require a primer to initiate transcription(RNA polymerase binds to a specific region of DNA called the promoter and unwinds the DNA double helix. Then, it synthesizes an RNA molecule complementary to one of the DNA strands, using the other DNA strand as a template. This process initiates at the promoter sequence without the need for a primer.)
unlike DNA polymerase, which requires a primer for DNA replication

81
Q

Does RNA POLYMERASE have 3’ > 5’ exonuclease activity?

A

RNA polymerase lacks 3’->5’ exonuclease activity

82
Q

What are operons?

A

Operons
-units of prokaryotic DNA that consist of a cluster of genes under the control of a single promoter and regulatory sequences
-Single promoter, many genes
-Polycistronic mRNA

83
Q

How do prokaryotes regulate translation with inducers vs. repressors?

A

-Regulation of operons by repressors
When the repressor protein is bound to the operator RNA polymerase cannot bind, and transcription does not occur.
-the inducer binds to the repressor, inactivating it

84
Q

How does the LAC operon positively regulate?

A

The lac promoter is weak
It requires cyclic AMP (cAMP) and Catabolite Gene Activator Protein (CAP) to Stimulates transcription of the lac operon
CAP*cAMP binds 5’ of the promoter (activator site), helps RNA polymerase bind to the promoter and form the closed complex
Glucose sensing: glucose ↓, cAMP ↑
(+) Control

85
Q

How is tryptophan a repressor in prokaryotes??

A

Tryptophan is a corepressor that binds to the inactive repressor, causing it to change conformation and bind to the operator
Inhibits transcription of the operon

86
Q

What is Chromatin remodeling?

What are the results of methylation, acetylation, and phosphorylation

A

Chromatin-remodeling complex
Requires energy from ATP hydrolysis
-modification of chromatin structure to regulate access to DNA and control gene
-Chromatin remodeling involves altering the position, composition, or organization of nucleosomes
expression
-Increase/maintain positive charge- methylation
-Decrease positive charge- acetylation
-Increase negative charge- phosphorylation

87
Q

What are the components of a PIC?

A

RNA polymerase II and six general (basal) transcription factors act cooperatively with each other and form the pre-initiation complex (PIC)

88
Q

Alternative Splicing and Poly-A Sites

A

Alternative splicing is a process in eukaryotic gene expression whereby a single pre-mRNA can be spliced in multiple ways to produce different mRNA transcripts, leading to the synthesis of distinct protein isoforms from a single gene.

Poly A sites specific sequences in eukaryotic pre-mRNAs where a stretch of adenosine nucleotides (poly-A tail) is added to the 3’ end of the RNA molecule during mRNA processing

89
Q

What are microRNAs and what are the two processes by which they work?

A

microRNAs (miRNAs) are small RNA molecules that regulate protein expression at a posttranscriptional level.
An miRNA can either induce the degradation of a target mRNA or block translation of the target mRNA

90
Q

Define Pharmacogenetics vs. pharmacogenomics

A
91
Q

What are alleles?

A

Allele: one of two or more versions of a gene. An individual inherits two alleles for each gene, one from each parent. If the two alleles are the same, the individual is homozygous for that gene. If the alleles are different, the individual is heterozygous.

92
Q

What makes us the Non-coding region?

A

Non-coding region: includes introns, regulatory sequences, and other intergenic DNA
-Promoter- sequence the directs of regulates gene transcription
-Enhancer- short DNA sequences that impacts transcription of genes by binding protein factors
-UTR (untranslated region)- non-coding transcribed region that affects mRNA stability

93
Q

What can INDELs lead to ?

A

INDELs: insertion and/or deletion of nucleotides into genomic DNA
- Can lead to reading frameshift

94
Q

How often do Polymorphs vs mutations occur?

A

Polymorphisms occur >1% of the time

Mutations occur <1% of the time

95
Q

What is the difference between Somatic and Germline mutations?

A

Somatic Mutation:
Genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell in the course of cell division.
-Later somatic mutations have less effect than early developed
Germline Mutation:
A germline mutation is any detectable and heritable variation in the lineage of germ cells. Mutations in these cells are transmitted to offspring

96
Q

What is genetic drift?

A

variation in the relative frequency of different genotypes in a small population, owing to the chance disappearance of particular genes as individuals die or do not reproduce

97
Q

What is the founder effect?

A

the reduced genetic diversity which results when a population is descended from a small number of colonizing ancestors

98
Q

What is Linkage Disequilibrium

A

non-random association of alleles at different loci in a given population

99
Q

What is positive selection?

A

process by which new advantageous genetic variants sweep a population

100
Q

What is the most Common phase I reaction?

A

Oxidation

101
Q

ATP transporters are a form of [answer1] transporters, where SLC transporters are [answer2] transporters

A

Answer for blank # 1: Active
Answer for blank # 2: Secondary

102
Q

What are the most common Phase I enzymes

A

CBR1
CYP2E1
CYP3A4

103
Q

What do each of the following represent?
>
p
1
(#)
“xN”

A

“>” represents a DNA base pair substitution

Changes in amino acid (AA) sequence is denoted by the original AA followed by the position and the AA found in the mutant
A “p” is placed in front to indicate protein sequence

*1 denotes the default reference allele (wild type or fully functional) that is first identified.

A unique number (*#) is assigned when a novel variant is identified-a variant with no functional impact

“xN”,- Number of copies of gene

104
Q

What is a Haplotype?

A

Haplotype: Combination of a set of alleles on a chromosome

104
Q

What are Tag SNPs?

A

Tag SNPs: a subset of SNPs that can be used to determine a haplotype
Knowing the 3 SNPs is sufficient to determine the haplotype (rather than sequencing it all)

104
Q
A
105
Q
A
105
Q
A

Pharmacogenomics (1 decks)

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