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MBD > Mutation detection techniques > Flashcards

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
Q

Stain used in G banding

A

Giemsa stain

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26
Q

Mild treatment used in G banding

A

2x standard saline citrate

for 60 mins at 60C

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27
Q

It is seen when chromosomes are harshly treated

A

R banding

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28
Q

(True or False)

Acridine orange is used in C banding

A

False

R banding

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29
Q

Seen when chromosomes are treated with alkali

A

C banding

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30
Q

The component stained in C banding

A

Centromere

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31
Q

How many bands are stained per chromosome in High resolution banding

A

300-500

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32
Q

Stain used in Nuclear organizing region

A

Silver nitrate

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33
Q

(True or False)

Chromosomes treated with silver nitrate will stain at constricted regions on Telocentric regions

A

False

Acrocentric

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34
Q

DAPI is also knowns as

A

4’6-diamino-2-phenylindole

35
Q

It is used to visualize chromosomes and whole nuclei

A

DAPI

36
Q

Observation of metaphase chromosome structure by arranging them by size

A

Karyotyping

37
Q

It stimulates cell division

A

Mitogen (phytohemaglgutinin)

38
Q

Inhibitor of mitotic spindle formation

A

Colcemid

39
Q

Loss of chromosome material

A

Deletion

40
Q

Gain of chromosome material

A

Insertion

41
Q

Excision, flipping, reconnecting chromosome material

A

Inversion

42
Q

2 types of inversion

A

Pericentric

Paracentric

43
Q

two short/long arms separate into daughter cells

A

Transverse split

44
Q

Metacentric chromosome from a transverse split

A

Isochrome

45
Q

Results from deletion of genetic regions from ends of chromosome

A

Ring chromosome

46
Q

Translocated or rearranged parts from 2 or more unidentified chromosome joined

A

Derivative chromosome

47
Q

It is the detection of protein, RNA, DNA structures placed in the cell or in situ

A

Fluorescence in situ hybridization

48
Q

It is more rapid w/ higher resolution than karyotpying

A

FISH

49
Q

It is used to study prenatal samples, tumors, hematologic malignancies

A

Interphase FISH

50
Q

2 types of probes used in Interphase FISH

A 
Centromeric probes (CEN)
Telomeric probes
51
Q

Probe that is useful for detection of chromosome structural abnormalities

A

Telomeric probes

52
Q

Probe that hybridizes with the alpha satellite sequences of centromeres

A

Centromeric probes

53
Q

Fading or loss of probe signal emission due to photochemical destruction

A

Photobleaching

54
Q

Analysis of small regions not visible by regular chromosome banding

A

Metaphase FISH

55
Q

It uses a special imaging software to distinguish all 23 chromosomes by specific colors

A

Spectral karyotpying

56
Q

These 2 are used as a probe on a normal metaphase chromosome spread in Comparative genome hybridization

A

DNA

Reference samples

57
Q

It is capable of identifying the location of deletions or amplifications

A

Comparative Genome Hybridization

58
Q

This type of mutation doesn’t change the amino acid sequence

A

Silent mutations

59
Q

The amino acid sequence in this type of mutation is changed but have similar biochemical properties

A

Conservative substitutions

60
Q

The amino acid is replaced with biochemically different amino acid

A

Non-conservative substitutions

61
Q

It terminates proteins prematurely due to a nucleotide substitution

A

Nonsense substitution

62
Q

Nonsens substitution produces a ______

A

stop codon

63
Q

It disrupts the reading frame due to insertion/deletion in nucleotide or RNA

A

Frameshift mutation

64
Q

(True or False)

In frameshift mutation more than 3 nucleotides are changed

A

True

65
Q

3 types of mutation that will generate different phenotypes

A

Nonconservative
Nonsense
Frameshift

66
Q

5 Biochemical methods for detecting mutations

A 
Enzyme immunoassays
Immunohistochemistry
High-performance Liquid Chromatography
Gas Chromatography
Mass Spectrometry
67
Q

This method uses specific antibodies or other ligands to detect target molecules

A

Enzyme immunoassay

68
Q

Tissues in this method are prepared thru fixing in formalin, snap freezing, cutting in cryostat

A

Immunohistochemistry

69
Q

This is faster than indirect staining but has limited signal intensity

A

Direct Antibody staining

70
Q

It uses fluors/enzymes not attached to the antibody that binds with the target molecule

A

Indirect Antibody test

71
Q

2 phases oh High performance liquid chromatography

A

Mobile

Stationary

72
Q

(True or False)

In Gas chromatography, the Mobile phase is a high boiling point liquid, and the Stationary phase is an inert gas

A

(False)
Mobile phase = inert gas
Stationary = high boiling point liquid

73
Q

It is a test coupled with Gas chromatography so it can be used to detect biomarkers of disease

A

Mass spectrometry

74
Q

This method converts molecules into ions that can be moved in a magnetic field based on their charge and mass

A

Mass spectrometry

75
Q

2 types of Mass spectrometry

A 
Electrospray ionization (ESI)
Matrix-assisted laser desorption ionization (MALDI)
76
Q

Single base pair resolution by hybridization

A

Array technology

77
Q

Short double stranded products of PCR products are denatured followed by rapid cooling

A

Single-stranded confirmation polymorphism

78
Q

Utilizes differences in the melting temperatures of your short sequences

A

Allele-specific oligomer hybridization

79
Q

It includes a post amplification step of real time PCR

A

Melt-curve analysis

80
Q

It detects point mutations and SNPs

A

Sequence-specific PCR

81
Q

This enzyme recognizes the structure formed by hybridization of the normal/mutant pole

A

Cleavage enzyme

82
Q

It follows the principle of heteroduplex analysis but uses a duplex RNA

A

Nonisotopic RNase cleavage assay

83
Q

Useful for mutations that change the structure of restriction enzyme target site or changes the size of a fragment

A

Restriction fragment length polymorphisms (RFLPs)

84
Q

(True or False)

Gene names are capitalized and set in italics with hyphens

A

False

without hyphens

MBD (3 decks)

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