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FFM-I Mini 2 > Week 6 > Flashcards

Week 6 Flashcards

1
Q

Descriptions of the Abdomen

A

Flat
Scaphoid
Rounded
Protuberant

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2
Q

9 regions of Abdomen

A

Upper
1) R Hypochondriac
2) Epigastric
3) L Hypogastric
Middle
4) R Lumbar
5) Umbilical
6) L Lumbar
Lower
7) R Iliac/Inguinal
8) Hypogastic/Suprapubic
9) L Ilian/Inguinal

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3
Q

4 Quadrants of Abdomen

A

RUQ
RLQ
LUQ
LLQ

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4
Q

Organs located in R Hypochondriac Region:

A

Liver
Gallbladder
R Kidney
Hepatic Flexure of LI

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5
Q

Organs located in L Hypochondriac Region:

A

Stomach
Liver (tip)
Spleen
Pancreas (tail of)
L Kidney
Splenic Flexure of LI

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6
Q

Organs located in Epigastric region:

A

Abdominal esophagus
Stomach
Pancreas
SI
Liver
Galbladder
R/L Kidneys
R/L Adrenal Glands

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7
Q

Organs located in R Lumbar region:

A

Liver
Gallbladder
R Kidney
Ascending colon
SI

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8
Q

Organs located in Umbilical region:

A

Stomach
Pancreas
Transverse colon
SI
R/L Kidneys

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9
Q

Organs located in L Lumbar region:

A

L Kidney
Descending Colon
SI

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10
Q

Organs located in R Iliac/Inguinal region:

A

SI
Appendix
Cecum
Ascending Colon
R ovary and uterine tube

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11
Q

Organs located in Hypogastric/Suprapubic:

A

SI
Sigmoid Colon
Rectum
Bladder
Uterus/Ovaries/Uterine tubes
Prostate/Seminal Vesicles/Vas deferens

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12
Q

Organs located in L Iliac/Inguinal

A

Descending colon
Sigmoid colon
SI
L ovary/uterine tube

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13
Q

Normal Liver span at midsternal line

A

4-8 cm in midsternal line

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14
Q

Normal Liver span at midclavicular line

A

6-12 cm in R midclavicular line

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15
Q

Visceral peritoneum:

A

Peritoneum surrounding visceral organs within the abdominal cavities

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16
Q

Parietal peritoneum:

A

Peritoneum lining the walls of the abdominal cavity

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17
Q

Uses for DNA Technology

A

1) Dx genetic conditions
2) Predict multifactoral diseases
3) Preventative med
4) Predict drug responses
5) Manufacture of biopharms
6) Cancer genomics - prognosis, treatments
7) Genomic editing/Gene therapy

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18
Q

Techniques to see DNA/RNA

A

Light Microscopy
Electrophoresis
Blotting
DNA sequencing

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19
Q

Ways to see DNA with “naked” eye

A

Compact DNA with dyes/proteins
Cut and dye DNA
Copy DNA with dye attached

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20
Q

DNA/RNA and Light Microscopy

A

Chromosomes locked in metaphase
Able to visualize histones
DNA partially denatured then labelled with probe

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21
Q

DNA/RNA and Sequencing

A

DNA extended with DNA polymerase
Terminated with 2’,3’ dideoxynucleotide

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22
Q

DNA/RNA and Electrophoresis

A

Separation of DNA/RNA by size

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23
Q

DNA/RNA and Blotting

A

Immobile DNA/RNA detected via specific sequence
Hybridizes with Probe that is tagged and can be visualized

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24
Q

Purpose of Light Microscopy and DNA?

A

Looks for LARGE abnormalities
Trisomy/Monosomy, Ring structures

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25
Q

Describe non-denaturing gels:

A

Detects larger differences or secondary structure effects
Ranges from 50,000 bp - 100 bp

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26
Q

Purpose of Electrophoresis and DNA?

A
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27
Q

Purpose of Blotting and DNA?

A
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28
Q

Purpose of Sequencing and DNA?

A
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29
Q

FISH is used to detect?

A

Chromosomal rearrangements
Large insertions/deletions in chromosomes
Trisomy/monosomy

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30
Q

Fluorescent In Situ Hybridization

A

FISH
Multiple probes added to detect multiple sequences

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31
Q

Types of Gel for Electrophoresis

A

Denaturing
Non-denaturing

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32
Q

Describe denaturing gels:

A

Detection of single nucleotide differences
Ranges from 1-2000 nucleotides

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33
Q

Denaturing gels for electrophoresis are useful for?

A

Sequencing
Copy number variation
Other analysis for differentiation in length of NA

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34
Q

DNA size determined via

A

Electrophoresis

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35
Q

Huntingtons Disease caused by

A

CAG repeats within the htt gene

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36
Q

Techniques for proteins

A

Microscopy
Blotting
Sequencing

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37
Q

Purpose of Sequencing and Proteins?

A

Chemical removal of one AA at a time
Determine AA
Edman Degradation and Mass spec.

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38
Q

Purpose of Blotting and Proteins?

A

Western: separate proteins and probe with another protein
ELISA: one protein in spot; attached to matrix; 2nd protein binds to first; probe binds to 2nd protein

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39
Q

Purpose of Microscopy and Proteins?

A

Look at stained proteins
Gram stained or Hematoxylin and Eosin

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40
Q

DNA Blotting Technique

A

Cleaved by size
Fragments transferred to matrix
2nd DNA sample labeled with dye/radioactivity
Hybridize/bind probe to first DNA
Analysis

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41
Q

Allele Specific Oligonucleotide Probes

A
  • Synthesized chemically
  • Up to 100 bp
  • Hybridize to cDNA
  • Differentiates single base pair with probe
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42
Q

Allele Specific Oligonucleotides used for?

A

Primers
ID alleles on blot

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43
Q

Types of Blotting Techniques:

A

Southern
Northern
Western
Dot
Microarray

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44
Q

Use of Southern Blot

A

Electrophoresis of DNA
Separate by size
Labelled with DNA/RNA

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45
Q

Use of Western Blot

A

Electrophoresis of protein
Separate by size
Labelled with antibody (Ab)

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46
Q

Use of Northern Blot

A

Electrophoresis of RNA
Separate by size
Labelled with DNA/RNA

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47
Q

Use of Dot blot

A

DNA/RNA used without size separation
Probe added with labelled DNA/RNA

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48
Q

Use of microarray

A

Visualization of macromolecules
(RNA, DNA, carbs, proteins, lipids, tissues, viruses)
Multiple tiny dots at one time

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49
Q

Southern blotting used to detect?

A

Restriction Fragment Length Polymorphisms (RFLP)

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50
Q

Dot blots used for?

A

Tell relative amount of DNA/RNA with specific sequence
Small as single nucleotide polymorphism

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51
Q

Northern blotting used for?

A

Detect lengths of RNA

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52
Q

Sanger DNA Sequencing Method

A

Single strand DNA of unknown sequence used as template
Primers added with labelled deoxynuclotides as well
Split sample into 4 tubes
Add one of 4 dideoxynuclotides to each tube
Allow synthesis to continue until it stops
Read electrophoresis gel

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53
Q

Why do dideoxynucleotides stop DNA synthesis?

A

No 3’ hydroxyl group to bind to to keep adding nucleotides to chain

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54
Q

Uses of Sequencing in terms of Discovery tool:

A

1) Single gene disorders
2) Polymorphisms
3) Protein prediction
4) Variants in polygenic disorders
5) Localize genes from linkage

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55
Q

Uses of Sequencing in terms of Diagnostic tool:

A

1) Genetic testing
2) Genotyping
3) IVF
4) ID Infectious pathogens

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56
Q

Uses of Sequencing in terms of Predictive tool:

A

1) Susceptibility
2) Drug sensitivity/insensitivity
3) Treatment response
4) Morbidity

57
Q

Best ways to amplify DNA

A

PCR
Recombinant DNA cloning
cDNA
ASO

58
Q

Define: Recombinant DNA

A

DNA inserted into vector from another organism
Is grown in organism that can replicate vector

59
Q

Cloning vectors usually carry?

A

1) Selectable markers
2) Reporter Gene
3) Multi-cloning site
4) Origin of replication

60
Q

Define: Selectable marker

A

Grow only in cells with plasmid is media is medicated
Indication of plasmid in cell

61
Q

Define: Reporter gene

A

Blue/white screening
White positive for DNA inserted into gene
Indication of DNA inserted/cloned into plasmid

62
Q

Define: Multi-cloning site

A

Restriction enzyme sites that will disrupt reporter gene
Allows for easy insertion of gene

63
Q

Define: Origin of replication

A

Replicate DNA with high copy number

64
Q

DNA of interest cut with?
What does it leave on DNA?

A

Restriction enzymes
Sticky ends on DNA

65
Q

What enzyme repairs sticky ends on DNA strands?

A

DNA Ligase

66
Q

How is cDNA made

A

Copying mRNA and reverse transcriptase it to cDNA

67
Q

Uses for cDNA?

A

1) Exome sequencing
2) Cloning genes without introns in bacteria
3) Study gene expression (stability of mRNA; splice site variant; expression levels of mRNA)
4) Hybridization probe
5) Gene therapy

68
Q

Steps in PCR:

A

1) Denature DNA
2) Cool down and add annealing primers
3) Extend primers with DNA polymerase II
4) Continue to repeat until enough copies of DNA present

69
Q

Uses of PCR to amplify DNA:

A

Used when tiny amount of DNA available
Just need on molecule to amplify

70
Q

Uses of PCR to Genetic testing:

A

Pre-natal testing
IVF
Paternity
Ancient DNA from fossils
Genealogy

71
Q

Uses of PCR to make probes:

A

Easily labelled
Quick to produce

72
Q

Uses of PCR to map out genetic changes:

A

Detection of single nucleotide polymorphism
Detect restriction fragment length polymorphism
ID pathogens

73
Q

Types of probes used in DNA tech:

A

PCR
cDNA
Oligonucleotides

74
Q

PCR as a probe type

A

Ranges from 50 bp to 2kb
DNA amplified to millions of copies

75
Q

cDNA as a probe type

A

Segments of 50 bp 10 kb DNA

76
Q

Oligonucleotides as a probe type

A

Synthetic DNA from 2bp to 100 bp

77
Q

Types of Labelling in DNA Tech

A

Radioactive probes
Fluorescent probes
Oligonucleotides

78
Q

Radioactive probe labels

A

Radioactive phosphorus on 5’ end
All molecules will look the same with 5’ radiolabelled

79
Q

Fluorescent probe labels

A

Linked to chemicals that fluoresce
Able to use several probes of different colors at the same time

80
Q

Oligonucleotide labels

A

Label added during production or after production

81
Q

Restriction endonucleases

A

AKA Restriction enzymes

82
Q

Method of action for restriction enzymes

A

Cut sequence-specific DNA sequences

83
Q

Primarily made of?

A

dsDNA

84
Q

Restriction enzymes bind to

A

Palindromic sequences in DNA

85
Q

If palindromic sequence in DNA mutated - what becomes of restriction enzymes?

A

They are unable to cut sequence DNA since palindromic sequence is mutated

86
Q

Gain or loss of restriction sites can be exploited in what way?

A

Analysis of Restriction Fragment Length Polymorphism

87
Q

Bacteria will protect their DNA how?

A

Methylation

88
Q

Restriction enzyme TaqI

A

Formulated from Thermus aquaticus
Recognizes T/CGA sequences to create sticky ends on fragments

89
Q

Restriction enzyme HaeIII

A

Formulated from Haemophilus aegyptius bacteria
Recognizes 5’-GG/CC-3’ sequences to create blunt ends on fragments

90
Q

Dot Blotting

A

DNA/RNA fixed to membrane then probe added to detect sequence
ONLY complementary DNA/RNA sticks to blot

91
Q

Dot blotting useful for?

A

Drug response on expression of genetic markers
Classification of tumors in cancers
Gene expression levels in different cells
Show progression of disease
Localization of tissue specific expression

92
Q

Variable Number Tandem Repeats

A

Occur in clusters with number of repeats varying in people
Makes use of microsatellites/repetative DNA

93
Q

Restriction Fragment Length Polymorphism takes advantage of

A

Mutational changes

94
Q

Mutations affect RFLP in what ways?

A

1) Longer/shorted fragments
Insertions yield longer fragments
Deletions yield shorter fragments
Point mutation NOT SEEN unless form/delete restriction site

95
Q

RFLP used to show?

A

Fragment has been cloned as expected
DNA fingerprinting
Genome mapping
Disease detection

96
Q

RFLP and Electrophoresis:
Use of agrose gel?
Use of Southern blotting?

A

Agarose gel only if DNA sample pure with few fragments
Southern blotting AFTER gel if whole genome needed or too many fragements

97
Q

Microarrays in diagnostic testing

A

Detected viral strains, bacterial strains, drug resistance, and forensic contact

98
Q

Genomic Wide Association Studies are used for?

A
  • Find predisposing genes in multivariant diseases
    *Find genes that are either upregulated that shouldn’t be or down regulated that shouldn’t be
99
Q

Comparative Staging Expression Microarrays

A

More likely to be used for staging cancers via gene expression
*Detect normal, early or late staging

100
Q

Screening Microarrays

A

ID Pathogens
Disease typing

101
Q

Genotyping

A

Detect mutant/variant type DNA

102
Q

Gene expression microarray

A

Amount of mRNA, timing of expression and splice variants in DNA

103
Q

Single nucleutide polymorphisms

A

Detection on single point mutation in DNA

104
Q

Describe interphase chromosomes

A

Not condensed
Barr body is only consolidation of genetic material

105
Q

Barr body

A

Inactivated X chromosome that condenses down

106
Q

Found evidence of the Barr body

A

Dr. Lyons

107
Q

Structure of a chromatid

A

Centromere
p arm (shorted)
q arm (longer)
Telomeres at very end

108
Q

Which phase of cell cycle to we arrest chromosomes to look at?

A

Metaphase

109
Q

Karyotyping

A

Ordered display of all chromosomes from ONE cell

110
Q

How are chromosomes ordered in karyotyping?

A

By size and/or position of centromere

111
Q

Classification of this chromosome?

A

Metacentric

112
Q

Classification of this chromosome?

A

Acrocentric

113
Q

Classification of this chromosome?

A

Submetacentric

114
Q

Chromosome numbers associated with acrocentric chromosomes?

A

13, 14, 15, 21, 22 & Y

115
Q

Why are chromosomes 13, 14, 15, 21, 22, and Y so important?

A

Involved in Robertsonian translocation

116
Q

Assignment of bands to chromosomes

A

Begin a centromere and work out
First number is REGION of chromosome
Second number is BAND ON chromosome in THAT region

117
Q

Features of Dark G bands on chromosomes?

A

Later replication
Fewer transcriptionally active genes
More condensed
Higher AT base pairs

118
Q

Define: Polyploidy

A

Multiple copies of chromosomes (usually 3)
Not viable with life
Triploid

119
Q

Define: Trisomy

A

Excess of one extra chromosome
Only ones viable with life - 13, 18, 21
Written as (47, XX, +21)

120
Q

Define: Monosomy

A

Lack of one chromosome
Monosomy X compatible with life
(45, X) / (45, XY, -16)

121
Q

Trisomy and monosomy due to

A

Non-disjuction in meiosis I

122
Q

Define: aneuploid

A

Wrong number of chromosomes

123
Q

Define: euploid

A

Correct number of chromosomes

124
Q

Maternal Age Effect:

A

Older a female gets, greater risk for non-disjuction events to occur
Eggs have been stuck in Prophase I since birth - that’s a long time to sit and stew.

125
Q

Only trisomy with no affects from maternal age?

A

Trisomy 16

126
Q

Describe sections of karyotype nomenclature

A

Number = number of chromosomes
XX/XY = sex chromosomes present
inv/del/dup/ins/r/t/rob/i
Number of chromosome involved
(Breakpoint in abnormality)

127
Q

Balanced chromosomes

A

Nothing gained/lost

128
Q

Unbalanced chromosomes

A

Too much gained or too much lost

129
Q

Duplication (dup)

A

Describe events within one PAIR of chromosomes
Having 2 copies of same chromosomal segment

130
Q

Insertion (ins)

A

Section of chromosome is copied and inserted into different chromosome
Recip chromosome mentioned first; donor chromosome mentioned second

131
Q

Deletion/Insertion combo

A

Section excised from one place and inserted somewhere else

132
Q

Isochromosome Formation (i)

A

Chromosome with 2 identical arms
Due to misattachment of spindle apparatus - separated from top to bottom, not side to side

133
Q

Ring (r)

A

Any chromosome that loses telomeres at BOTh ends will become a ring structure
Causes instability of cell - DNA unable to replicate ring structure
Seen more often in cancer cells

134
Q

Define reciprocal translocation (t)

A

Exchange of 2 acentric fragments of chromosomes
Breaks within arms that switch places with one another

135
Q

Define Robertsonian translocation (rob)

A

Usually occurring in the acrocentric arms of chromosomes (13, 14, 15, 21, 22, Y)
Satellites break off at ends of chromosomes and centromeres fuse together
Common cause of losing a chromosome (46 -> 45)

136
Q

Results of Reciprocal translocations:

A

Every case is phenotypically different
Developmental defects ARE common
Able to mimic known syndromes
Leads to multiple affected tissues (heart)

137
Q

Results of Robertsonian translocations

A

Genes in satellite are found in SEVERAL places
No symptoms in balanced form

138
Q

Philadelphia chromosome

A

Short chromosome containing centromere of 22 and tip of q-arm of 9
Product of reciprocal translocation
Joins chromosomes 9 and 22 together

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