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Mutation detection techniques Flashcards

1
Q

Humans inherit a haploid set of how many chromosomes from each parent?

A

23 chromosomes each

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2
Q

Trait or group of traits resulting from transcription & translation

A

Phenotype

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3
Q

DNA nucleotide sequence responsible for a phenotype

A

Genotype

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4
Q

It is used to describe inherited or somatic sequence alterations

A

Variants

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5
Q

(True or False)

Balanced polymorphisms are maintained through a balance of positive & negative genotype

A

False

phenotype

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6
Q

Genome mutations result in cells that are _____

A

Aneuploid

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7
Q

Most abundant protein in the nucleus

A

Histones

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8
Q

2 nonhistone protein complexes

A

Condensin I

Condensin II

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9
Q

Expression of a gene when it is moved or inserted in a chromosomal position different from its original position

A

Position effect

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10
Q

They maintain mitotic chromosome structure

A

Nonhistone protein complexes

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11
Q

They are looped onto protein scaffolds to from 30 nm fibers

A

30 nm interphase fibers

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12
Q

Compacted into 1400 nm fibers and seen as karyotypes

A

Solenoid coils

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13
Q

The first classic indicator of apoptosis

A

Loss of organization of solenoid coils

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14
Q

Highly compacted DNA is less available for RNA transcription

A

Chromosome topology

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15
Q

(True or False)

When DNA is NOT compacted, it is harder to unwind and relax

A

False

Compacted DNA = harder to unwind

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16
Q

This is the site of attachment of chromosome to spindle apparatus

A

Centromere

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17
Q

Protein complex which serves as the centromere’s means of connection to the spindle apparatus

A

Kinetochore

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18
Q

These are highly repetitive sequences at the centromere’s nucleus

A

Alpha Satellite Sequences

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19
Q

(True or False)

Alpha Satellite Sequences interfere w/ chromosome compaction

A

True

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20
Q

Centromere is in the middle

A

Metacentric

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21
Q

Has a longer arm & shorter arm

A

Submetacentric

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22
Q

Centromere is near the end

A

Acrocentric

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23
Q

Centromere may not be seen anymore

A

Telocentric

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24
Q

2 fluorescent dyes used in Q banding

A

Quinacrine

Quinacrine mustard

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25
Stain used in G banding
Giemsa stain
26
Mild treatment used in G banding
2x standard saline citrate | for 60 mins at 60C
27
It is seen when chromosomes are harshly treated
R banding
28
(True or False) | Acridine orange is used in C banding
False | R banding
29
Seen when chromosomes are treated with alkali
C banding
30
The component stained in C banding
Centromere
31
How many bands are stained per chromosome in High resolution banding
300-500
32
Stain used in Nuclear organizing region
Silver nitrate
33
(True or False) | Chromosomes treated with silver nitrate will stain at constricted regions on Telocentric regions
False | Acrocentric
34
DAPI is also knowns as
4'6-diamino-2-phenylindole
35
It is used to visualize chromosomes and whole nuclei
DAPI
36
Observation of metaphase chromosome structure by arranging them by size
Karyotyping
37
It stimulates cell division
Mitogen (phytohemaglgutinin)
38
Inhibitor of mitotic spindle formation
Colcemid
39
Loss of chromosome material
Deletion
40
Gain of chromosome material
Insertion
41
Excision, flipping, reconnecting chromosome material
Inversion
42
2 types of inversion
Pericentric | Paracentric
43
two short/long arms separate into daughter cells
Transverse split
44
Metacentric chromosome from a transverse split
Isochrome
45
Results from deletion of genetic regions from ends of chromosome
Ring chromosome
46
Translocated or rearranged parts from 2 or more unidentified chromosome joined
Derivative chromosome
47
It is the detection of protein, RNA, DNA structures placed in the cell or in situ
Fluorescence in situ hybridization
48
It is more rapid w/ higher resolution than karyotpying
FISH
49
It is used to study prenatal samples, tumors, hematologic malignancies
Interphase FISH
50
2 types of probes used in Interphase FISH
``` Centromeric probes (CEN) Telomeric probes ```
51
Probe that is useful for detection of chromosome structural abnormalities
Telomeric probes
52
Probe that hybridizes with the alpha satellite sequences of centromeres
Centromeric probes
53
Fading or loss of probe signal emission due to photochemical destruction
Photobleaching
54
Analysis of small regions not visible by regular chromosome banding
Metaphase FISH
55
It uses a special imaging software to distinguish all 23 chromosomes by specific colors
Spectral karyotpying
56
These 2 are used as a probe on a normal metaphase chromosome spread in Comparative genome hybridization
DNA | Reference samples
57
It is capable of identifying the location of deletions or amplifications
Comparative Genome Hybridization
58
This type of mutation doesn't change the amino acid sequence
Silent mutations
59
The amino acid sequence in this type of mutation is changed but have similar biochemical properties
Conservative substitutions
60
The amino acid is replaced with biochemically different amino acid
Non-conservative substitutions
61
It terminates proteins prematurely due to a nucleotide substitution
Nonsense substitution
62
Nonsens substitution produces a ______
stop codon
63
It disrupts the reading frame due to insertion/deletion in nucleotide or RNA
Frameshift mutation
64
(True or False) | In frameshift mutation more than 3 nucleotides are changed
True
65
3 types of mutation that will generate different phenotypes
Nonconservative Nonsense Frameshift
66
5 Biochemical methods for detecting mutations
``` Enzyme immunoassays Immunohistochemistry High-performance Liquid Chromatography Gas Chromatography Mass Spectrometry ```
67
This method uses specific antibodies or other ligands to detect target molecules
Enzyme immunoassay
68
Tissues in this method are prepared thru fixing in formalin, snap freezing, cutting in cryostat
Immunohistochemistry
69
This is faster than indirect staining but has limited signal intensity
Direct Antibody staining
70
It uses fluors/enzymes not attached to the antibody that binds with the target molecule
Indirect Antibody test
71
2 phases oh High performance liquid chromatography
Mobile | Stationary
72
(True or False) | In Gas chromatography, the Mobile phase is a high boiling point liquid, and the Stationary phase is an inert gas
(False) Mobile phase = inert gas Stationary = high boiling point liquid
73
It is a test coupled with Gas chromatography so it can be used to detect biomarkers of disease
Mass spectrometry
74
This method converts molecules into ions that can be moved in a magnetic field based on their charge and mass
Mass spectrometry
75
2 types of Mass spectrometry
``` Electrospray ionization (ESI) Matrix-assisted laser desorption ionization (MALDI) ```
76
Single base pair resolution by hybridization
Array technology
77
Short double stranded products of PCR products are denatured followed by rapid cooling
Single-stranded confirmation polymorphism
78
Utilizes differences in the melting temperatures of your short sequences
Allele-specific oligomer hybridization
79
It includes a post amplification step of real time PCR
Melt-curve analysis
80
It detects point mutations and SNPs
Sequence-specific PCR
81
This enzyme recognizes the structure formed by hybridization of the normal/mutant pole
Cleavage enzyme
82
It follows the principle of heteroduplex analysis but uses a duplex RNA
Nonisotopic RNase cleavage assay
83
Useful for mutations that change the structure of restriction enzyme target site or changes the size of a fragment
Restriction fragment length polymorphisms (RFLPs)
84
(True or False) | Gene names are capitalized and set in italics with hyphens
False | without hyphens

MBD (3 decks)

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