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FFM-I Mini 2 > Week 4 > Flashcards

Week 4 Flashcards

1
Q

Why study DNA?

A

1) Essential for inheritance
2) Codes for proteins
3) Instructions for life processes

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2
Q

Why is DNA important?

A

1) Study genetics causes of disease
2) Design of gene therapies
3) Develop drugs
4) Forensic science
5) Genomic sequencing
6) Detect pathogens
7) Determine paternity

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3
Q

Human genome divided into:
# DNA molecules
# autosomes
# sex chromosomes

A

46 DNA molecules
22 autosomal pairs
2 sex chromosomes

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4
Q

DNA contains how many bases?

A

6 billion

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5
Q

DNA contains how many base pairs?

A

3 billion

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6
Q

How long would DNA be if unwound?

A

2 m long

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7
Q

Composition of histones

A

2 pairs H2A, H2B, H3, and H4
H1 resides outside as lock for DNA coiling around histone complex

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8
Q

Nucleosome

A

Histone complex with DNA wrapped 2.5 times around it; no H1 protein attached at this point

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9
Q

Polynucleosome

A

Histone complex with DNA wrapped 2.5 times around it; H1 protein attached and is tightly compacted on itself

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10
Q

H1 histone protein

A

Linker protein
Binds to entry/exit site of DNA
Needed to stabilize higher order chromatin structures

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11
Q

Chromatin

A

Collection of nucleosomes put together in a tight condensed area

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12
Q

Supercoiling of DNA

A

Allows DNA to compact even tighter around itself

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13
Q

Charge on histones

A

Positive

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14
Q

Charge on DNA

A

Negative due to phosphate groups

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15
Q

Euchromatin

A

Relaxed DNA
Transcriptionally active
Exposed to nuclease digestion

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16
Q

Heterochromatin

A

Condensed DNA
Transcriptionally LESS active
Protected from nuclease digestion

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17
Q

Role of topoisomerase

A

Change degree of supercoiling in DNA; essentially relaxes the supercoiling of DNA

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18
Q

Acetylation of Histones - does what?

A

Causes histones to become more neutral; will becomes looser and allow DNA to unwind
Transcription allowed to increase

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19
Q

Phosphorylation of Histones - does what?

A

Add negative charge
Will cause greater amount of steric hindrance between molecules - loosening DNA from histones
Transcription allowed to increase

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20
Q

Methylation of Cytosine - does what?

A

Compacts DNA even further than it was
Decreased transcription

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21
Q

What occurs during G1 phase of cell cycle

A

Protein synthesis increased

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22
Q

Which period of the cell cycle are cells more responsive to mitogenic GF’s and TGF-Beta?

A

G1

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23
Q

What percentage of genome is used to encode proteins?

A

1.5%

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24
Q

What percentage of genome is comprised of introns?

A

26%

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25
Q

What percentage of genome is Long Interspersed Elements (LINE)?

A

20%

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26
Q

Which LINE is most abundant (13% of genome)?

A

L1

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27
Q

What percentage of genome is Short Interspersed Elements (SINE)?

A

13%

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28
Q

Which SINE is the most abundant (7% of genome)?

A

Alu

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29
Q

What percentage of genome is comprised of transposons?

A

11%

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30
Q

What are transposons?

A

Moveable genes
Usually viral in origin

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31
Q

What percentage of genome is considered heterochromatin?

A

8%

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32
Q

What would be considered heterochromatin?

A

Centromeres and telomeres

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33
Q

What is a telomere?

A

Region of repetative nucleotide sequences associated with specialized proteins at end of chromosomes

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34
Q

What is a centrosome?

A

Protein that links pair of sister chromatids to one another during cell division

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35
Q

Types of issues with transposable regions of DNA?

A

1) Increase/decrease spacing between regulatory units = change expression
2) Insert/delete coding region for proteins = alter protein functions
3) Alter gene expression = formation of pseudogenes

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36
Q

What are pseudogenes?

A

Nonfunctional gene copies
Non-expressed copies of genes

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37
Q

Hemophilia - caused by?

A

Caused by L1 insertion into clotting factor VIII gene

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38
Q

Adenomatous Polyposis Coli - causes colon cancer via?

A

Insertion of L1 into APC region of cancerous cells; not seen in healthy cells

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39
Q

Positives for Repetitive DNA

A

1) Promotion of gene repair = use copy after ds Break
2) Gene duplication = misalignment at single repeat
3) Gene deletion = misalignment of repeats

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40
Q

Centromeres

A

Considered satellite DNA
Monomeric sequences = 50-70% homology
Confer chromosome specificity

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41
Q

What are minisatellites?

A

Considered variable number of tandem repeats (VNTR)
Shorter regions of repeating elements (1-5kb)
>9 nucleotide length

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42
Q

What are microsatellites?

A
  • Considered variable number of tandem repeats (VNTR)
  • Referred to as short tandem repeats (STR) or simple sequence repeats (SSR)
  • 1-8 kb long
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43
Q

Central Dogma of Molecular Biology

A

DNA —> RNA —> proteins

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44
Q

Name and classification

A

Adenine
Purine

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45
Q

Name and classification

A

Guanine
Purine

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46
Q

Name and classification

A

Cytosine
Pyrimadine

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47
Q

Name and classification

A

Thymine
Pyrimidine in DNA

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48
Q

Name and classification

A

Uracil
Pyrimidine in RNA

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49
Q

Name
Symbol
Nucleoside

A

Adenylate (Adenosine-5’-monophosphate)
AMP
Adenosine

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50
Q

Name
Symbol
Nucleoside

A

Guanylate (Guanosine-5’-monophosphate)
GMP
Guanosine

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51
Q

Name
Symbol
Nucleoside

A

Uridylate (Uridine-5’-monophosphate)
UMP
Uridine

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52
Q

Name
Symbol
Nucleoside

A

Cytidylate (cytidine-5’-monophosphate)
CMP
Cytidine

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53
Q

Name
Symbol
Nucleoside

A

Deoxyadenylate (deoxyadenosine-5’-monophoaphate)
dA, dAMP
Deoxyadenosine

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54
Q

Name
Symbol
Nucleoside

A

Deoxyguanylate (Deoxyguanosine-5’-monophoaphate)
dG, dGMP
Deoxyguanosine

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55
Q

Name
Symbol
Nucleoside

A

Deoxythymidylate (deoxythymidine-5’-monophoaphate)
dT, dTMP
Deoxythymidine

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56
Q

Name
Symbol
Nucleoside

A

Deoxycytidylate (Deoxycytidine-5’-monophoaphate)
dC, dCMP
Deoxycytidine

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57
Q

Backbone of DNA formed by

A

Phosphodiester bond
Covalent bond

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58
Q

Which ends are involved in DNA backbone and what product is there

A

5’ phosphate group
3’ hydroxyl group

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59
Q

Bonding between DNA strands

A

Hydrogen bonding

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60
Q

Chargaff’s Rule

A

(A+T)+(G+C) = 100%

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61
Q

Structure of DNA

A

double stranded
Anti-parallel to one another
Strands will complement one another

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62
Q

bonds connecting A —> T

A

2 Hydrogen bonds

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63
Q

bonds connecting G —> C

A

3 hydrogen bonds

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64
Q

Which nucleotide bases are easiest to break apart?

A

A to T
Only double bonds present

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65
Q

What forms backbone of DNA

A

Sugars (ribose/Deoxyribose) + phosphates

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66
Q

What part of DNA faces out?

A

Hydrophilic phosphodeoxyribose backbones

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67
Q

What faces towards the interior of helix?

A

Nucleotide bases

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68
Q

How many bases per helical turn?

A

10.5
36 angstroms

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69
Q

Function of major/minor grooves in DNA

A

Provide binding sites for regulatory proteins

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70
Q

Importance of Cisplatin

A

Anti-cancer drug
Will intercollate between DNA strands
Prevents DNA polymerase from continuing with replication
Results in apoptotic death

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71
Q

Distance between nucleotides of backbone?

A

3.4 angstroms PER base

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72
Q

Various forms of DNA and where seen?

A

B-form: normal presentation; most stable
A-form: dehydrated B form; protection in bacteria
Z-form: L handed DNA; GC rich sequences; play role in gene regulation

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73
Q

DNA synthesized by?

A

DNA Polymerase

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74
Q

DNA synthesis - strand is read in which direction?

A

5’ to 3’

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75
Q

With addition of nucleotide to DNA backbone, what molecule is released?

A

Pyrophosphate
Pi-Pi

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76
Q

DNA polymerase requires what to begin synthesis of new DNA strand

A

DNA primer and template primers

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77
Q

Primer DNA provides?

A

Terminus 3’ -OH group

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78
Q

Template DNA primers provide?

A

Sequence specifying complement sequence for DNA chain

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79
Q

Importance of Azidothymidine Zidovudine?

A

Antiviral medication for HIV
Incorporates itself into viral DNA
Unable to continue replication due to no terminal -OH group on 3’ end

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80
Q

Why is DNA replication considered semiconservative?

A

One parent strand and one daughter strand

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81
Q

DNA is ALWAYS synthesized in what direction

A

5’ to 3’

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82
Q

Which strand of DNA will continuously form new DNA strand?

A

Leading strand

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83
Q

Which strand of DNA will NOT continuously form a new strand?

A

Lagging

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84
Q

Leading strand is always synthesized in what direction

A

Towards the replication fork

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85
Q

Lagging strand is always synthesized in what direction?

A

Away from the replication fork

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86
Q

Short pieces of newly replicated DNA on lagging strand

A

Okazaki fragments

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87
Q

What splices Okazaki fragments together on lagging strand?

A

DNA Ligase

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88
Q

How does DNA proofread itself during replication?

A

Constantly scanning termini of nascent DNA chains

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89
Q

How does DNA go about correcting errors in nascent DNA strands

A

3’-5’ exonuclease activity of DNA Polymerase

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90
Q
A
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91
Q
A
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92
Q

Which part of cell cycle checks whether cell is ready for replication?

A

G1 checkpoint

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93
Q

What are some factors that cells might assess for at various checkpoints?

A

Size
Nutrients
Molecular signals
DNA integrity?

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94
Q

Where are the normal replication checkpoints in cell cycle?

A

G1
G2
Metaphase

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95
Q

Function of Retinoblastoma protein

A

Binds to E2F transcription factor
Prevents transcription of proteins - prevents cell cycle progression

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96
Q

What releases pRb from E2f?

A

Being phosphorylated by a kinase

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97
Q

When E2F released from pRb, what happens?

A

E2F will bind to DNA and begin transcription of proteins
Begins progression of cell through cell cycle

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98
Q

What does E2F transcribe for?

A

Cyclin E and DNA Polymerase

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99
Q

DNA replication begins where?

A

Origin of replication

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100
Q

What recognizes Origin of Replication?

A

Origin of replication binding proteins

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101
Q

of origins of replication in eukaryotes

A

Multiple

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102
Q

of origins of replication in prokaryotes

A

One

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103
Q

Initiator proteins

A

ORC
Cdc6
Cdt1

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104
Q

What do initiator proteins do?

A

Recruit replicative helicase to bind to DNA

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105
Q

What forms replicative helicase in eukaryotes?

A

Cdc45
Mcm2-Mcm7
GINS complex

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106
Q

CDC6 and Cdk2 - Importance in terms of regulation during G1 and S phases

A

G1: Cdk2 activity low, CDC6 accumulates; pre-RC forms but not active
S: Cdk2 activity high, CDC6 inactive; pre-RC is activated

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107
Q

Why is regulation of CDC6 and Cdk2 important?

A

Ensures DNA replication happens only ONCE per cycle

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108
Q

ORC proteins function?

A

Recognize origin of replication site

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109
Q

Topoisomerase function?

A

Relieves supercoils from DNA ahead of replication fork

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110
Q

Mcm function?

A

DNA Helicase that unwinds parental duplex

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111
Q

Cdc6, Cdt1 function?

A

Unwinds DNA
Loads Replicative helicase onto DNA

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112
Q

RPA/SSB functions?

A

Maintains DNA in single stranded state (single stranded binding proteins)

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113
Q

RFC function?

A

Subunits of DNA holoenzyme; load clamp onto DNA

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114
Q

DNA Polymerase Delta/epsilon functions?

A

Primary replication enzymes; Synthesize entire leading strand and Okazaki fragments
Is able to proofread DNA strands

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115
Q

PCNA function?

A

Ring shaped subunit of DNA Polymerase holoenzyme
Clamps replicating polymerase to DNA
Works in conjunction with DNA Polymerase III (bacteria) and Pol Delta/Epsilon in Eukaryotes

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116
Q

Primase function?

A

Synthesize RNA primers

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117
Q

DNA Polymerase alpha function?

A

Synthesize short DNA oligonuclotides as PART OF RNA-DNA primer

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118
Q

DNA Ligase function?

A

Seals Okazaki fragments to one another; forms continuous strand of lagging strand

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119
Q

FEN-1/RNAase H functions?

A

Removes RNA primers

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120
Q

Possible to attach RNA primer to end of lagging strand?

A

No

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121
Q

Result of inability to attach RNA primers to end of lagging strand?

A

Lose a little DNA each time cell divides

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122
Q

Telomerase function?

A

Reverse transcriptase that add telomeric DNA to telomers
- RNA-dependent DNA polymerase
- Prevents shortening of DNA strands

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123
Q

Function of telomers?

A

Maintain genomic integrity
Prevent nucleases from “attacking” chromosomes

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124
Q

Successive shortening of telomers causes?

A

Chromosomal instability

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125
Q

Chromosomal instability can lead to?

A

Cell senescence or apoptosis

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126
Q

Why is telomerase important for cancer cells?

A

Maintains continuous telomere length; cell never realizes it needs to die because length is consistently maintained

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127
Q

Classifications of different studies in research?

A

Descriptive
Analytical

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128
Q

What is descriptive research?

A

Does not seek to quantify relationship; only means to give an overview of what is happening in a population

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129
Q

What is analytical research?

A

Seeks to quantify the relationship between 2 things
Seeks to understand effect of intervention/exposure on OUTCOME

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130
Q

Examples of Descriptive Studies?

A

Case Reports
Case Series
Qualitative Studies
Surveys (cross sectional)

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131
Q

Subtypes of Analytical Studies?

A

Observational
Experimental

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132
Q

Observational Studies

A

Researcher is passive with involvement

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133
Q

Experimental Studies

A

Researcher is more active with involvement

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134
Q

Describe a cross-sectional study?

A
  • Refers to a specific point in time
  • Snapshot at THAT moment in time
  • Can determine Prevalence
    (# persons affected/# persons studied)
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135
Q

Describe a case-controlled study?

A
  • Compares group of participants possessing condition of interest with similar group lacking condition
  • Used to study rare incidences or outcomes
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136
Q

Describe a cohort study?

A
  • Observational study following a group of people over time
  • Examines how certain factors affect health outcomes
  • Used to determine incidence
    (New cases/population)
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137
Q

Describe Prospective cohort study?

A
  • Observational study focused on following group of people over time
  • Will collect data on exposure to factor of interest
  • Outcomes are tracked to see if association between exposure and outcome
  • Looks FORWARD in time to see relationship between exposure and outcome
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138
Q

Describe Retrospective cohort study?

A
  • Observational study focusing on individuals with exposure to disease/risk factor
  • Analyze health outcomes over time to form connections/assess risk of outcome with given exposure
  • Look BACK in time to examine relationship between exposure in past and present outcomes
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139
Q

Advantages/Disadvantages of Cross-sectional study?

A

Advantage: Quick, easy
Disadvantage: No cause and effect

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140
Q

Advantages/Disadvantages of Case-controlled study?

A

Advantage: Good for rare disease; able to generate hypothesis
Disadvantage: Establish correlation, not CAUSATION; Recall bias

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141
Q

Advantages/Disadvantages of Cohort study?

A

Advantage: Establish cause and effect
Disadvantage: LONG Follow Up; Loss to follow up; Expensive

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142
Q

Describe Experimental Study

A

Interventions used
Investigator controlled maneuvers

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143
Q

Types of Experimental Studies?

A

Randomized trials
Non-randomized trials
Quasi-experimental

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144
Q

What measure of association corresponds to Cohort studies?

A

Relative risk

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145
Q

What measure of association corresponds to Case-Control studies?

A

Odds ratio

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146
Q

What measure of association corresponds to Cross-sectional studies?

A

Odds ratio
Prevalence ratio

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147
Q

Odds ratio

A

Odd’s of disease in exposed/odds of disease in UNexposed
- Odds outcome occurs with exposure compared to odds of outcome occurring without exposure

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148
Q

Relative Risk

A

Risk of disease in exposed/risk of disease in UNexposed

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149
Q

When does odd ratio = relative risk?

A

If disease is rare

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150
Q

Which types of studies give the strongest evidence?

A

Meta-analyses and Systematic Reviews

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151
Q

Which types of studies give the weakest evidence?

A

Cohort Studies
Case controlled studies
Case report

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152
Q

Which types of studies give medium strength for evidence?

A

Randomized control studies
Quasi-experimental

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153
Q

Advantages of Medical Documentation?

A

1) Continuity of Care
2) Allows provider to provide thinking process/management plan clear to all
3) Longitudinal pic of overall health of person

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154
Q

80% of diagnoses made on _______ alone.

A

Patient history

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155
Q

Why is H&P important?

A

1) Convey concise/detailed info about patient hx and exam findings AT TIME
2) Outlines plan to address issues
3) Way of communication with providers
4) Medico-legal documentation

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156
Q

Part of Patient History?

A

CC
HPI
PMH
FM
SH
ROS

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157
Q

Parts of Patient Physical Assessment?

A

1) Current and thorough head-to-toe exam
2) Can also include mental status exam
3) KNOWN and relevant labs/imaging results

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158
Q

Parts of Assessment?

A

1) ID/localize abnormal findings
2) Interpretation of findings
3) Make a hypothesis about issue
4) Formulate Differential Dx
5) Generate problem list with CC and active issues at top

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159
Q

Parts of Plan?

A

Inclusion of evaluation and/or management of problems

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160
Q

SOAP notes

A

Subjective
Objective
Assessment
Plan

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161
Q

Use of the SOAP note

A

Organizing patient information
Daily updates
Focus on “active” problems
Focused history and PE

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162
Q

S in SOAP note:
Meaning
Info in section

A

Subjective
What patient tells you
Hx of symptoms/CC/HPI
RELEVANT PMH, FH, SH, and ROS

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163
Q

O in SOAP note:
Meaning
Info in section

A

Objective
What YOU observe (hear, smell, feel, see)
PE findings/mental status changes
Available XR/Lab results

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164
Q

A in SOAP note:
Meaning
Info in section

A

Assessment
What YOU think is going on
Problem list/differential dx

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165
Q

P in SOAP note:
Meaning
Info in section

A

Plan
What YOU are going to do
Work up and/or management plan

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166
Q

How long are medical records maintained

A

Depends on state law - usually no longer than 10 years.

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167
Q

Allowed to refuse to give patient records to patient

A

No - not for any reason

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168
Q

Items of info to share with patients

A

Medication List
Vital Signs
Trends related to chronic illness
Patient education material

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169
Q

What to include in patient notes?

A

Remain neutral and professional
Avoid hostile and derogatory statements

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170
Q

Allowed to change medical record?

A

No - allowed to make an addendum

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171
Q

Ways to avoid errors

A

Do not use drug abbreviations
Don’t use hanging zeros
Can use LEADING zeros

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172
Q

Issues with medical dictation?

A

Speech recognition STILL makes mistakes - go back and proofread notes before completing them

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173
Q

Issues with telemedicine?

A

Social distancing
Isolating for provider
Patients feel less connected to provider

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174
Q

Document phone calls?

A

Yes - need to be recorded for legal and medical reasons

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175
Q

Define: Exogenous sources of genetic damage

A

Influences from outside environment
(UV light, radiation, carcinogens)

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176
Q

Define: endogenous sources of genetic damage

A

Unintended consequences of metabolic processes
(Oxidation, nitrosylation, hydrolysis)

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177
Q

Why is UV light so potent and exogenous source of damage to DNA?

A
  • Will form covalent bonds between pyrimidines bases
  • Form pyrimidine dimers
  • Distort DNA structure - unable to replicate correctly
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178
Q

Define: Substitution mutations

A

Change in ONE DNA base

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179
Q

CaDefine: Transitions

A
  • Change in base pairs
  • Purine replaced with another purine
  • Pyrimidine replaced with another pyrimidine
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180
Q

Define: Transversions

A
  • Change in base pairs
  • Purine replaced with pyrimidine
  • Pyrimidine replaced with purine
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181
Q

Define: Indels

A

Insertion/deletion of SINGLE NUCLEOTIDE PAIR!

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182
Q

Define: Silent mutations

A
  • Change in codon that doesn’t affect final product
  • Usually occurs in the Wobble site of codon
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183
Q

Define: Missense mutations

A
  • Mutation resulting different AA inserted
  • Can change whole property of protein
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184
Q

Define: Nonsense mutations

A
  • Premature stop codon inserted in wrong position
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185
Q

Define: Frameshift mutations

A
  • Due to 1-2 base deletions/additions
  • Changes AA sequence
  • Result in shortened proteins
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186
Q

Define: Splice Site mutations

A
  • Formation/deletion of splice site for introns/exons
  • Acceptor site (3’ end) = scan for next sequence; exon removed
  • Donor site (5’ end) = scan for next sequence; introns remain
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187
Q

Define: Loss of function

A

Proteins that are quickly degraded or Nonfunctional proteins

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188
Q

Define: Gain of function mutations

A

Protein bind to something it should not

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189
Q

Define: Genomic instability

A

Increased propensity for genetic mutations

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190
Q

Why is Methyl-C mutation hot spot?

A
  • Methylated Cytosine tells cells which is parent strand and which is newly synthesized strand
  • Needed for repair mechanism to function properly
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191
Q

Germline mutations:
Parental gametes

A

1) Passed to offspring
2) Can result in disease
3) Genetically inherited diseases
4) Every cell of individual contains mutation

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192
Q

Germline mutations
Embryo

A

NA

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193
Q

Somatic mutations:
Parental gametes

A

N/A

194
Q

Somatic mutations:
Embryo

A

Cannot be passed onto offspring

195
Q

Somatic mutations:
Organism

A

1) Occur in single cell
2) Produce clones with mutation
3) Result in phenotypically mutated region of body
4) Frequently involve CA

196
Q

Germline mutations:
Organism

A

Mutation present throughout organism

197
Q

Germline mutations:
Offspring gametes

A

1) Result in inherited disease
2) Present in 1/2 gametes produced
3) Ex: NF-1 gene

198
Q

Somatic mutations:
Offspring gametes

A

1) Limited to somatic cells
2) Not present in gametes
3) Not genetically inherited
4) Ex: McCune-Albright Syndrome

199
Q

Father Effect concerning mutations

A
  • Higher likeihood for mutation due to number of times chromosomes divide
  • Begin around 15 yrs - chromosomes will divide around 2,000,000 times by 50 yo
200
Q

Mother effect concerning mutations

A
201
Q

Direct Repair of DNA

A
  • Repair of DNA without breaking of phosphodiester bonds
  • Addresses spontaneous methylation
  • Ex: O6-methylguanine-methyltransferase
202
Q

Single-strand Repair of DNA

A
  • Lesion on one strand of DNA helix
  • Will use complementary strand as template for repair
203
Q

Base Excision Repair of DNA

A
  • Lesions affecting single nucleotide
  • Introduction of uracil in DNA chain, deamination (alter base) and depurination (lose base)
  • Caused by endogenous sources
204
Q

Nucleotide Excision Repair of DNA

A
  • DNA lesion involving more then 1 nucleotide
  • Effect of foreign molecule
  • Removes/replaces larger sections of nucleotides to fix lesions
    -Cleaved by endonucleases
205
Q

Post-Replication Mismatch Repair of DNA

A
  • Incorrect base inserted into DNA strand and DNA polymerase didn’t catch it
  • Mut proteins recruit endonucleases to remove/replace section with mismatch nucleotide
206
Q

Homologous Recombination

A
  • Use homologous chromosomes as template to repair severed strands
  • Occur during S and G2 phases of cell cycle
207
Q

Nonhomologous End Joining

A
  • Special ligase fuses ends of 2 DNA fragments
  • Will connect any 2 ends of ANY 2 severed strands it finds
  • HIGH ERROR prone
  • Results in translocations
208
Q

Types of RNA: mRNA

A

Messenger RNA
Proteins

209
Q

Types of RNA: tRNA

A

Transfer RNA
Used in protein translation

210
Q

Types of RNA: rRNA

A

Ribosomal RNA
Forms scaffold of Ribosome

211
Q

Types of RNA: snRNA

A

Small nuclear RNA
Used in ribonucleoproteins (spliceosomes and telomerase)

212
Q

Types of RNA: hnRNA

A

Heterogeneous nuclear RNA
pre-RNA - single strand of immature mRNA

213
Q

Types of RNA: miRNA

A

MicroRNA (ssRNA)
Fragments of nascent RNA’s
Formed via spliceosomes
Inhibitors of translation

214
Q

Types of RNA: siRNA

A

Silent Interfering RNA
Viral origins (dsRNA)
Cleaves mRNA
Will down regulated gene expression

215
Q

Types of RNA Polymerase:
RNA Polymerase I

A

rRNA in nucleolus

216
Q

Types of RNA Polymerase:
RNA Polymerase II

A

mRNA in nucleus

217
Q

Types of RNA Polymerase:
RNA Polymerase III

A

tRNA and other RNA’s in nucleus

218
Q

Types of epigenetic changes to DNA

A

Methylation of histones. cytosine
Acetylation/Phosphorylation of histones

219
Q

With epigenetic changes, what happens to DNA

A

Methylation - condenses
Acetylation/Phosphorylation: loosening of nucleosomes

220
Q

When nucleosomes relax, what can bind to DNA?

A

DNA binding proteins

221
Q

DNA binding proteins are result of

A

End products of 2nd messenger systems

222
Q

Example of DNA binding proteins

A

E2F

223
Q

Protein bound to E2F to keep in inhibited?

A

Retinoblastoma protein

224
Q

What causes pRB to release from E2F?

A

Phosphorylation via kinases

225
Q

Location of enhancer region for DNA

A

Upstream of binding site - towards 5’ end

226
Q

Location of repressor/silencing region

A

Just upstream of binding site

227
Q

TATA box

A

Promotor region for binding

228
Q

Location of primary transcript to be read?

A

Downstream of promotor region - towards 3’

229
Q

Types of controls enhancers/silences have?

A

Tissue specific
Time specific
Organ specific
Cell type specific

230
Q

Role of Transcription enhancers

A

Enhance transcription of gene set
Force nucleosome rearrangement to allow promotor region to be accessible

231
Q

Role of Transcription silencers/repressors?

A

Prevent transcription

232
Q

Mechanisms by which transcription repressors block transcription?

A

1) Obstruction of promotor site
2) Force nucleosomal rearrangement to prevent RNA Pol from binding
3) Bind protein that obstructs promotor either directly or indirectly

233
Q

If E2F is bound to DP1 - what occurs?

A

Looping of DNA

234
Q

Looping of DNA allows for what?

A

Allow enhancer element further down to interact with transcription-initiator complex

235
Q

What proteins are regulated by E2f being bound to DP1?

A

CDC6
MCM
DNA Pol delta
All seen in late G1

236
Q

What is DP1?
What does it form with E2f?
Stimulates?
Represses?

A

1) TFDP1
2) Will form heterodimer with E2f
3) Stimulated E2F-dependent transcription
3) Represses cell-cycle dependent genes in quiescent cells
4) Inevitably activates G2/M genes

237
Q

What is TFIID?

A

Complex of TATA Binding protein abd TATA box protein associate factors

238
Q

Direction DNA read?

A

Read from coding strand in 5’ to 3’ direction

239
Q

DNA equivalent to RNA produced?

A

Coding strand (exchange T for U)
All else remains the same

240
Q

Template Strand
Bound by?
Used for?

A

Bound by RNA Polymerase
Used for base pairing nucleotides during transcription

241
Q

RNA polymerase requires 3 things:

A

1) Nucleosome moved out of way
2) Transcription regulators to bind to DNA
3) Transcription factors bind regulators and DNA AT start site

242
Q

All transcripts will have 3 regions?

A

5’ UTR
3’ UTR
Coding region

243
Q

TATA Box:

A

Sequence found in core promotor region
Located 25-35 bp upstream from start site

244
Q

CCAAT box

A
  • GGCCAATCT
  • Consensus sequence upstream 60-100 bp to initial transcription site
  • Signals binding site for RNA transcription factors
245
Q

Pribnow box

A

Bacterial equivalent of TATA box
Shorter sequence

246
Q

Proteins that initially binds to RNA Polymerase II promotors?

A

TBP and TFIIA

247
Q

Subsequent proteins that bind to RNA Polymerase II binding site

A

TFIIB w/ Polymerase II
TFIIE
TFIIH

248
Q

RNA Polymerase II Binding proteins form what type of complex with one another

A

Closed - not activated yet

249
Q

In the RNA Polymerase II Binding protein complex, where is DNA unwound?

A

The Inr region

250
Q

What enzyme/activity unwinds DNA at the INR region of the RNA Polymerase II Binding protein complex?

A

Helicase

251
Q

Which RNA Polymerase II Binding protein has the activity of helicase?

A

TFIIH/THIIE
(Allows RNA Pol II to begin reading DNA)

252
Q

Once DNA unwound at Inr region, what does this form?

A

Open complex

253
Q

What end of Pol II protein is phosphorylated by THIIH?

A

Carboxyl-terminal end (CTD)

254
Q

What does phosphorylating Pol II protein do for transcription?

A

Allows polymerase to escape promotor and begin transcription

255
Q

What comprises the Carboxy Terminal Domain of RNA Pol II?

A

52 repeats of Tyr-Ser-Pro-Thr-Ser-Pro-Ser

256
Q

What is the Carboxy Terminal Domain involved in?

A

Initiation of transcription
5’ Capping of transcript
Attachment of spliceosome for splicing

257
Q

Which residue in Carboxy Terminal Domain get phosphorylated to being capping of transcript and bring factors to form Poly A tail?

A

Ser5

258
Q

What phosphorylated Ser5 in the Carboxy Terminal Domain?

A

THIIH

259
Q

What Serine is phosphorylated to actually ACTIVATE elongation of transcript?

A

Ser2

260
Q

Termination of elongation occurs via?

A

Dephosphorylation of RNA Pol II

261
Q

Initial activation of RNA Polymerase II occurs where?
Final activation of RNA Polymerase II occurs where?

A

Serine 5 residue
Serine 2 residue

262
Q

RNA Pol II will only work with?

A

RNA nucleotides

263
Q

RNA Nucleotides

A

ATP, GTP, CTP, UTP

264
Q

First nucleotide of RNA transcript placed where in relation to promotor/TATA box?

A

Just 3’

265
Q

After first few nucleotides placed, what replaces initial transcription factors?

A

Other transcription factors that promote elongation

266
Q

What is the D-loop structure?

A

Where 2 stands of dsDNA molecule are seperated for a stretch and are held apart by a third strand.

267
Q

Initiation stage of DNA replication completes when?

A

RNA is greater that 10 bp long

268
Q

Hallmark sign of end of initiation

A

Capping enzyme binding to 5’ end and capping 5’ end

269
Q

Introns

A
  • Sequences of RNA removed to make mature RNA
  • Non-coding regions of RNA
270
Q

Exons

A
  • Sequences of RNA retained in mature mRNA
  • Coding regions of RNA
271
Q

Structure that removed introns from immature RNA?

A

Spliceosomes

272
Q

Spliceosome

A
  • Large ribonucleoprotein complex
  • Seen in nucleus of eukaryotic cells
273
Q

Modifications of RNA occur when?

A

As transcript is made

274
Q

Modification of tRNA and rRNA

A

Fold into mature 3D form as soon as RNA released from D loop

275
Q

Polycistronic mRNA

A

mRNA that encodes for multiple proteins from a SINGLE gene

276
Q

Modifications of mRNA

A

5’ capping - usually GTP
3’ Poly A tail
Removal of introns via spliceosomes

277
Q

Modifications made to tRNA

A

Folded
Spliced via spliceosomes
3’ CCA ending added

278
Q

Modification of rRNA

A

Folded
Spliced via spliceosomes

279
Q

Formation of 5’ Cap on mRNA

A
  • 7-methyl-guanosine
  • Connected to RNA via 5’-to-5’ phosphate bridge
280
Q

Functions of 5’ Capping?

A

Protect 5’ end of RNA
ID RNA as mRNA

281
Q

Splicing of mRNA

A
  • Intron sequence beginning with 5’-GU and 3’-AG sequence with A-branch point in sequence between
282
Q

Donor splice site

A

5’ end of mRNA

283
Q

Acceptor site

A

3’ end of mRNA

284
Q

When does splicing occur?

A

At same time as transcription or immediately thereafter

285
Q

What molecule attaches to 5’ donor site and 3’ acceptor site?

A

snRNP (spliceosome)

286
Q

Intro binding proteins act in what way for splicing?

A

Bringing 3’ end of one exon close to 5’ end of another further down mRNA

287
Q

How does splicing occur?

A
  • 5’ end of intron excised - attached to Adenosine near 3’ end of intron
  • Loop is formed at GpA area
  • 3’ end of intron excised while exons ligated together
288
Q

Functions of snRNP’s

A

1) Recognize splice site
2) Catalyze lariat site
3) Fuse exons together

289
Q

Estimation of how many diseases are correlated to splicing errors?

A

1/3 of all disease

290
Q

Calcitonin alternative processing

A
  • Calcitonin gene related proteins formed in thyroid; not formed in brain
291
Q

Regulation of splicing

A

RNA binding proteins and snRNA/spliceosomes

292
Q

Alternative splicing forms?

A

Different isoforms of RNA

293
Q

Exon skipping occurs due to ?

A
  • 5’ end of intron spliced downstream of normal intron
  • Removes exon between them
294
Q

Intron retention occurs due to?

A
  • Splice sites of intron repressed/lost due to mutation
  • Retain intron in mature RNA
295
Q

Truncated proteins formed by?

A

Change in reading frame of RNA

296
Q

Alternate splicing results in?

A

Alternate protein sequence/function

297
Q

Physiological importance of alternate splicing

A

BRCA1 gene in response to DNA damage

298
Q

Point mutations can lead to?

A

Abnormal splice site

299
Q

RNA structure

A
  • Can form double helices within ITSELF
  • A form
300
Q

RNases

A

Enzymes with specificity acting on RNA

301
Q

Maturation of RNA requires?

A

RNases

302
Q

tRNA control of RNA activity:
3’ end
5’ end

A
  • 3’ end modified by adding CCA; recognizable for aminoacyl-tRNA synthase
  • 3’ end protected by addition of AA to 3’ -OH group
  • 5’ end protected by base pairing
303
Q

mRNA control of RNA activity:
3’ end
5’ end

A
  • 5’ end capped with 7-methyl-guanosine
  • 3’ end with Poly A tail
  • Poly A Binding Proteins (PABP) protect 3’ end
  • PABP required for transport OUT of nucleus
304
Q

Function of Aminoacyl-tRNA synthetase?

A

Connects correct AA to tRNA via binding pocket hydrogen bonding at 3’ end of tRNA
(Uses ATP to charge AA to tRNA at 3’ end)

305
Q

5’ end of tRNA trimmed by ______ for what purpose?

A

RNases
Has single 5’ phosphate left

306
Q

3’ end of tRNA trimmed by ______ for what purpose?

A
  • tRNAse Z
  • Non-coded CCA added via nucleotidyl-transferase
307
Q

Middle loop of tRNA

A

Anti-codon loop
Where complementary sequence is encoded

308
Q

Start codon

A

AUG

309
Q

Stop Codons

A

UAA
UAG
UGA

310
Q

How many codons encode for AA’s

A

64

311
Q

How many AA’s are produced?

A

20

312
Q

Redundant nature of genome

A
  • Multiple codons coding for ONE AA
  • Allows for wiggle room at Wobble site (3rd codon)
313
Q

Point mutation causes?

A

Deamination or methylation of DNA bases

314
Q

Which DNA strand is match for RNA strand when translated?

A

Coding strand of DNA

315
Q

What nucleotide is replaced in RNA from DNA

A

Thymine become Uracil in RNA

316
Q

Coding sequence

A

Replace every T with a U
Everything else remains the same

317
Q

Reading template sequence?

A

Form reverse compliment in RNA form
5’ end is on right!

318
Q

Translation of mRNA

A
  • mRNA MUST be matured
  • Must exit nucleus
  • Ribosome properly loaded to find AUG codon
  • Elongation using charged tRNA’s bound to E2F
  • Termination at stop codon
319
Q

How is mRNA removed from nucleus?

A

Nuclear Export Factors and TF’s

320
Q

PABP functions?

A

1) bind 3’ poly a tail
2) bind TF’s to 5’ cap
3) Cause mRNA to circularize to exit nucleus

321
Q

Pre-initiation of translation beings where?

A

Nucleus

322
Q

Initiation factor that binds 5’ cap of mRNA?

A

eIF4F

323
Q

eIF4F role?

A

Promote eukaryotic translation initiation

324
Q

Composition of eIF4F?

A
  • Heterotrimeric protein complex
  • Consists of eIF4A, eIF4G, eIF4E
325
Q

Function of eIF4A?

A

Helicase activity

326
Q

Function of eIF4G?

A

Scaffold protein between eIF4F complex and PABP

327
Q

Function of eIF4E?

A

Cap-binding protein

328
Q

Which ribosomal subunit will eIF4F bind to?

A

40S, smaller subunit

329
Q

Key protein in control of polypeptide chain initiation?

A

Guanine nucleotide exchange factor (eIF-2B)

330
Q

Role of eIF-2B?

A
  • Exchanger of GTP for GDP
  • Forms ternary structure (eIF-2.GTP.Met.tRNAf)
331
Q

Function of eIF-2.GTP.Met.tRNAf structure?

A

Initiator complex for translation

332
Q

If stressors act on eIF2B complex?

A
  • Phosphorylated alpha subunit of complex
  • Will inactivate complex
333
Q

If eIF2B inactive, what happens to protein synthesis?

A

Decreases

334
Q

IRES region

A

Internal Ribosome Entry Site

335
Q

Pre-initiation looping of?

A

Poly A tail - PABP - eIF4G - eIF4A - eIF4E

336
Q

If eIF4G lost/phosphorylated, what occurs?

A

Initiation of translation is aborted

337
Q

Ways to lose eIF4G

A

1) Cleavage by Capsase 3 during apoptosis
2) Cleavage by viral proteases

338
Q

Alternate path for eIF4G to be activated?

A

Using Internal Ribosome Entry Site (IRES)

339
Q

Activation of IRES site?

A

Proteolyzed or modified eIF4G

340
Q

Virus that can use IRES site to advantage?

A

Picornaviruses

341
Q

Mechanism of action by picornaviruses on eIF4G?

A

Proteolyze eIF4G
Virus has IRES that will override host mRNA

342
Q

Steps for elongation:
Step 1

A

Step 1: Met-tRNA at P site

343
Q

Steps for elongation:
Step 2

A

2nd tRNA binds at A site on 60S ribosomes
Guided by eEF1

344
Q

Steps for elongation:
Step 3

A

Peptide bond formed between Met and other AA

345
Q

Steps for elongation:
Step 4

A

mRNA and tRNA complex shifted to R (frees up A site)

346
Q

Steps for elongation:
Step 5

A
  • tRNA in E site ejected
  • Peptide bonds form between Chain and new AA in A site
347
Q

Steps for elongation:
Step 6

A

mRNA and tRNA complex shift again
Free up A site

348
Q

Function of eEF2 during elongation?

A
  • Catalyze hydrolysis of GTP
  • Provides energy for translocations from A to P sites
349
Q

Termination factors bind to ribosome at what time?

A

Encountering a stop codon
(UAA, UGA, UAG)

350
Q

Enzyme that attaches AA’s on peptide chain

A

Peptidyl- transferase

351
Q

Composition of peptidyl-transferase

A

Composed entirely of RNA

352
Q

Ribozymes

A

Enzymes not made of proteins but ribonucleotides

353
Q

Types of epigenetic regulation?

A

1) Methylation
2) Acetylation
3) Phosphorylation
4) Change in nucleosomal structure

354
Q

Changes caused by methylation

A
  • Addition of methyl group to DNA
  • Represses transcription
355
Q

Changes caused by acetylation?

A
  • Occurs at histones
  • Allows for increased availability of DNA
  • Increased transctiption
356
Q

Changes caused by phosphorylation?

A
  • Occurs at histones
  • Allows for increased availability of DNA
  • Increased transctiption
357
Q

Changes caused by nucleosomal structure changes

A
  • Modulate availability of DNA to TF’s
358
Q

Other means to control gene expression?

A

1) Temporal controls
2) Spatial controls
3) Environmental controls
4) Change in [metabolites] or [energy]

359
Q

Decreased levels of ATP or GTP can lead to what for replication?

A

1) Cause delays/prevent cellular processes
1.1) Prevent replication due to not enough energy
1.2) Reduce transcription/translation - delay process, don’t load components

360
Q

Role of ATP/GTP in replication/transcription/translation?

A

Energy transfer and biosynthesis rxns

361
Q

Main event of G1 checkpoint?

A

Phosphorylation of Cdc6

362
Q

Why is phosphorylation of Cdc6 important for replication?

A

It is the start signal of replication initiation

363
Q

Consequences of low ATP levels in replication?

A

tRNA not charges
RNA polymerase hesitates when incorporation Adenine

364
Q

Consequences of low GTP level in replication?

A

1) eIF2 unable to load 60S ribosome
2) eEF1 and eEF2 unable to load new aminoacyl-tRNA
3) eEF1 and eEF2 unable to translocate ribosomes

365
Q

Enzymes which use ATP and GTP:

A

1) Histone acetylase
2) Topoisomerase
3) Helicases
4) FEN1
5) Ligases
6) Capping enzymes for mRNA
7) Spliceosomes

366
Q

Enzymes which use ATP and GTP:

A

1) Nucleotidyltransferase
2) Aminoacyl-tRNA synthase
3) Translation initiation factors
4) eEF1 placing charged tRNA in A site
5) eEF2 in translation translocation
6) Translation Release factor

367
Q

Function of FEN1

A

Maintain stable telomers

368
Q

Function of nucleotidyl-transferase?

A

Part of repair pathway for single nucleotide base excision

369
Q

During protein elongation, what is used as primary energy source?

A

GTP and ATP

370
Q

Which parts of protein synthesis are GTP and ATP used for?

A

Translation initiation
Elongation
Termination

371
Q

Tight control of protein synthesis highlights?

A

Importance of tight control over accurate processes and their energy usage (no energy wasted)

372
Q

Crucial step in DNA replication

A

Assembly/activation of pre-Replication Complex (pre-RC)

373
Q

What assembles pre-Replication complex?

A

CDK and DDK phosphorylation

374
Q

During replication initiation: Cdc6 is phosphorylated by

A

CDK2

375
Q

What happens to Cdc6 when phosphorylated?

A

Is removed from pre-RC

376
Q

What takes places of Cdc6 in pre-RC?

A

Cdc45

377
Q

With addition of Cdc45, the pre-RC becomes?

A

Initiation complex

378
Q

PCNA

A

Proliferating cell nuclear antigen

379
Q

What is responsible for loading PCNA on DNA?

A

Replication Factor C

380
Q

Role of PCNA?

A

Sliding clamp holding polymerase on template strand

381
Q

What is DDK?

A

Ser-Thr kinase
Composed of Cdc7 and Dbf4 subunits

382
Q

What phase of cell cycle is DDK most abundant at?

A

S phase

383
Q

ORC2L and ORC6L

A

Origin recognition complex subunits
Recognize origin of replication

384
Q

Why does Cdc7 need to interact with Dbf4?

A

ATP binding
Substrate recognition

385
Q

Ways transcription is regulated

A

1) Availability of nucleotides
2) Availability of binding sites for TF’s to bind to

386
Q

Circadian regulation involves?

A

Glucocorticoid receptors
Heat shock proteins 70 and 90
Protein FKBP4

387
Q

Hormonal regulation

A

Direct binding of hormone
2nd messenger signal in cascade

388
Q

Vitamin D:
Binds to?
Mode of action to DNA?
Forms what?

A

Forms complex that binds to DNA
Rearranges nucleosomes, allowing RNA Pol II to bind
Transcribes Calbindin gene

389
Q

Increased Calbindin expressions lead to?

A

Increased Ca2+ uptake in intestines

390
Q

Adrenaline:
Binds to?
Mode of action to DNA?
Forms what?

A

Binds to GPCR
Triggers cascade effect - increased production of glycolytic enzymes
Allows cell to rapidly produce energy

391
Q

Transcript Maturation:
RNA Pol II and its role

A

C-terminus is phosphorylated

392
Q

What is RNA interference?

A

Post-translational gene silencing

393
Q

How is RNA interference mediated?

A

Small RNA molecules called microRNA’s (miRNA)

394
Q

How do miRNA’s function to silence?

A

Bind to complementary sequence on mRNAs
Either degrades mRNA or inhibits translation

395
Q

RNA binding protein that increases RNA stability

A

HuR

396
Q

Increased RNA stability leads to

A

Increased translation

397
Q

RNA binding protein that increases RNA stability as well as transports RNA out of nucleus?

A

PABP

398
Q

RNA binding protein that decreases RNA stability?

A

RPB AUR1

399
Q

Mechanism of action for RBP AUR1

A

Binds to AU-rich sequences in 3’ UTR

400
Q

Composition of miRNA

A

Smaller components of larger heteronuclear RNA

401
Q

Pharmaceutical inhibitors of DNA replication

A

Acyclovir

402
Q

Pharmaceutical inhibitors of Polymerases:

A

1) Cytarabine
2) Floxuridine
3) Fludarabine
4) Gemcitabine

403
Q

Pharmaceutical inhibitors of dTTP production:

A

1) 5-Fluorouracil
2) 6-mercaptopurine
3) Capecitabine
4) Floxuridine
5) Fludarabine
6) Hydroxycarbamide
7) Methotrexate
8) Pemetrexed

404
Q

Antibiotics that inhibit 30S small subunit

A

Aminoglycosides
Will bind to 30S subunit; defective product produced

405
Q

Antibiotics that inhibit tRNA:

A

Tetracyclines bind to 30S unit
Inhibit bond formation of tRNA’s = no protein synthesized

406
Q

Antibiotics that inhibit 50S large subunit:

A

Chloramphenicol, Lincoamides, Macroglides
Bind to 50S unit
Inhibit peptide bond formation = no protein synthesized

407
Q

Method of action for Polio virus in transcription/translation?

A
  • Will proteolyze eIF4G = prevents reinitiation of host mRNA containing 5’ caps
  • Gives viral RNA preferential treatment for translation
408
Q

Method of action for ricin toxin in transcription/translation?

A

Breaks glycosidic bonds in ribosomal subunits
Results in no protein synthesis because adenine removed from 28S rRNA
(Overall peptidyl-transferase inactive)

409
Q

Method of action for Diphtheria toxin in transcription/translation?

A

From Corynebacterium diphtheria
A subunit of toxin processed by endosome and release in cytosol
- Toxin will ADP-ribosylate E2F
- E2F unable to catalyze GTP dependent translocations
- Translation ceases because A site cannot move to P site and P site cannot move to E site in ribosomes

410
Q

Define: alleles

A

different versions of a gene

411
Q

Define: Gene

A

1) Sometimes can be transcription unit
2) Sometimes can be allele of chromosome

412
Q

Define: Genotype

A

Genetic composition of a person

413
Q

Define: Phenotype

A

Physical presentation of a persons genotype

414
Q

Define: Homozygous

A

Two alleles are identical

415
Q

Define: Heterzygous

A

Individual with 2 different alleles

416
Q

Define: Hemizygous

A

Only ONE copy of an allele

417
Q

Define: Haploinsufficiency

A

Only one copy of allele delivers insufficient amount of product

418
Q

Define: Gamete

A

Either egg or sperm; sex cells

419
Q

Define: Affected

A

Person WITH symptoms of disease

420
Q

Define: Congenital

A

Symptoms present at birth

421
Q

Define: Fitness

A

Number of offspring reaching reproductive age / average number for population

422
Q

Define: Penetrance

A

Proportion of individuals with mutation exhibiting clinical symptoms among all individuals with such mutation

423
Q

Define: Expressivity

A

Degree to which phenotype expressed by individuals with particular genotype

424
Q

Define: Variable Expressivity

A

Difference in severity or age of onset for seemingly identical genotype
Seen mostly in dominant diseases

425
Q

Define: Pleiotrophy

A

One gene influences 2+ unrelated phenotypic traits
One gene = mutliple phenotype results

426
Q

Define: Allelic Hetergenicity

A

Different mutations at same location on allele lead to same/similar phenotypes

427
Q

Define: Locus heterogenicity

A

Mutations at MULTIPLE gene locations capable of producing SAME phenotype
Each mutation sufficient to cause phenotype

428
Q

Define: Phenocopy

A

Variation in phenotype caused by environmental conditions
Organisms phenotype matches phenotype determined by genetic factors
*not a mutation

429
Q

Define: Genetic marker

A

Gene or DNA sequence with known location on chromosome and can be used to ID individual/species

430
Q

Define: Delayed age of onset

A

Presentation of disease delayed until later in life

431
Q

Which inheritance pattern is more common than most?

A

Heterozygous

432
Q

Which inheritance pattern is less common than most?

A

Homozygous

433
Q

Most common inheritance pattern in marriages

A

Heterozygous marries homozygous

434
Q

Fitness in dominant diseases:

A

reduced fitness –> expected lowered incidence in next gen

435
Q

Autosomal Recessive

A

1) Only homozygous carriers demonstrate symptoms
2) Parents are usually heterzygous usually

436
Q

Loss of function in what is typical in recessive inheritance?

A

Enzyme function
Compensation/1/2 amount of product is good enough

437
Q

Loss of function in what is typical in dominant inheritance?

A

Structural proteins
1/2 amount of product NOT enough
Leads to haploinsufficiency

438
Q

Gain of function occurs in which inheritance pattern?

A

Dominant inheritance

439
Q

In a pedigree - what does proband refer to?

A

First family member who brought family to attention of person taking family history

440
Q

What is indicated by red circle?

A

Person is desceased

441
Q

What is indicated by red square?

A

Monozygotic twins

442
Q

What is indicated by red circle?

A

Proband individual

443
Q

What is indicated by red circle?

A

Dizygotic twins

444
Q

Define: Autosomal dominant inheritance

A

Phenotype shows presence of allele
Also in Heterozygotes
Gene is on Autosome

445
Q

Define: Autosomal recessive inheritance

A

Phenotype ONLY present when two disease causing alleles present

446
Q

Recognizing AR:

A

1) Do not normally have affected parent
2) 25% of time affected in siblings
3) Parents often distantly related in some way

447
Q

Recognizing AD:

A

1) All affected have at LEAST one affected parent
2) Average is 50/50 for siblings

448
Q

Autosomal inheritance

A

Equal number males inherit as females

449
Q

X-linked recessive inheritance

A

Phenotype is no other allele present
Hemizygous in males
Rarer in females

450
Q

X-linked dominant inheritance

A

Always will show phenotype

451
Q

Y-linked inheritance

A

Affects only males
Male fertility

452
Q

Recognizing XR:

A

More males will be affected than females
Daughters will be CARRIERS only
NEVER WILL SEE Father to Son transmission
Affect uncle-nephews

453
Q

Recognizing XD:

A

More females than males affected
1/2 sons affected & 1/2 daughters affected
NEVER WILL SEE Father to Son transmission

454
Q

Recognizing Y-linked:

A

ONLY WILL EVER BE FATHER TO SON

455
Q

If mother is heterozygous:
XR?
XD?

A

XR: 1/2 sons affected; 1/2 daughters carriers
XD: 1/2 sons affected; 1/2 daughters affected as well

456
Q

If father is affected:
XR?
XD?

A

XR: all daughters carriers; sons not affected
XD: ALL daughters affected; sons are carriers

457
Q

Define: sex-limited inheritance

A

Genes on autosomes
Dominant OR recessive
Influence traits expressed only in ONE of the sexes
*Diseases linked to either male or females - only expressed in ONE sex
(Uterine cancers in females, prostate cancers in males)

458
Q

Non-penetrance of disease

A

Predisposing genotype but does NOT show symptoms
Someone who has the disease but does NOT show it

459
Q

Mitochondrial Inheritance

A

From Female Carrier to ALL offspring

460
Q

Allelic Heterogeneity:
Gene
Variation
Phenotype

A

1) Only ONE location causes issue; different alleles at ONE location
2) Two of more alleles
3) Same or different
Ex: CFTR for CF

461
Q

Locus Heterogeneity:
Gene
Variation
Phenotype

A

1) Two or more genes cause issue
2) At least ONE bad allele per gene
3) Same
Ex: Xeroderma Pigmentosum/Congenital Deafness

462
Q

Define: Codominance
Example of:

A

Refers to both allelic copies being expressed at the same time
Neither is recessive or masks the other
Ex: AB blood types

463
Q

Define: Incomplete penetrance
Example of:

A

Someone has diseased allele but does NOT express the trait of that diseased allele - have a higher likelihood to DEVELOP that trait
Ex: BRC1 and BRCA2

464
Q

Define: Pleiotrophy
Example of:

A

One gene affecting MULTIPLE phenotypic traits
Ex: PKU - multiple symptoms OF disease

465
Q

Define: Genetic Anticipation
Example of:

A

Process by which there is INCREASED severity and DECREASED age of onset of disease in subsequent generations
Ex: Huntington’s Disease (will get disease at younger and younger ages with worsening severity)

466
Q

Define: Locus heterogeneity
Example of:

A

Process by which DIFFERENT LOCI/mutations cause the SAME PHENOTYPE
(In theory - different disease processes cause similar presentation of ONE of the disease processes)
Ex: Marfanoid habitus can be caused be Homocystinuria, Marfan Syndrom, or MEN 2B

467
Q

Define: Heteroplasmy
Example of:

A

One or more types of mitochondrial DNA accounting for variable expression of Mitochondrial disease
DNA is both normal AND MUTATED
Ex: Mycoclonic Epilepsy with Ragged Red Fibers (MERFF)

468
Q

Define: Variable Expression
Example of:

A

AKA: expressivity
Situation where people have same disease genotype but DIFFERENT symptoms
Ex: 1) Marfan’s Syndrome
Ex: 2) Neurofibromatosis Type 1

469
Q

Normal chest

A

No structural deformities or visible retractions

470
Q

Barrel Chest

A

Increased AP diameter

471
Q

Pigeon chest

A

Anterior displacement of sternum

472
Q

Funnel Chest

A

Depressed lower sternum

473
Q

Throacic-Kypho-Scoliosis

A

Raised shoulder/scapula, thoracic convexity, and flared interspaces

474
Q

Three groups of respiratory muscles

A

1) Diaphragm
2) Rib cage muscles
3) Abdominal muscles

475
Q

Muscles of inspiration

A

1) SCM
2) Scalenes
3) Pectoralis minor
4) Pectoralis major
5) Serratus anterior
6) External intercostals

476
Q

Muscles of Expiration

A

1) Internal intercostals
2) External Obliques
3) Internal Obliques
4) Transversus abdominis

477
Q

Conducting Portion of Respiratory System:

A

Nasal cavities
Pharynx
Larynx
Trachea
Bronchi
Bronchioles
Terminal Bronchioles

478
Q

Respiratory Portion of Respiratory System:

A

Respiratory Bronchioles
Alveolar Ducts
Alveolar Sacs
Alveoli

479
Q

Anatomy of R Lung

A

2 Fissures - oblique and horizontal
3 lobes: superior, inferior, and middle

480
Q

Anatomy of L Lung

A

1 fissure - Oblique
2 lobes - Superior and inferior
Cardiac notch - where the heart resides
Lingula - most anterior portion of Superior lobe; right near apex of heart

FFM-I Mini 2 (7 decks)

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