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Molecular Diagnostics 2018 > Molecular Diagnostics exam > Flashcards

Molecular Diagnostics exam Flashcards

1
Q

In end-point PCR gel, what are the fragments that migrate past the smallest standard?

A

Primers and primer-dimers

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2
Q

During the transfer of DNA for Southern blotting, larger fragments of DNA do what?

A

Transfer more slowly than smaller fragments

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3
Q

In the denaturation step of the polymerase Chain Reaction what happens to the dsDNA?

A

Gets separated into ssDNA

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4
Q

What are the steps to southern blot procedure?

A

Restricted enzyme
electrophoresis
denaturation
probe hybridization

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5
Q

What is the signficance of the observation of circulating mRNA versus the observation of circulating DNA?

A

The presence of circulating mRNA indicates that a message has been transcribed and will likely result in the synthesis of new protein

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6
Q

Which reporter unit in real-time PCR is designed in a hair-pin structure?

A

Molecular Beacon

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7
Q

Fluorescent dye specific to dsDNA?

A

SYBR Green

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8
Q

This method exploits the natural 5’ to 3’ exonuclease activity of Taq polymerase to generate signal?

A

TaqMan Probe

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9
Q

This method utilizes specific probes, one with a 3’ fluorophore (acceptor) and the other with a 5’ catalyst for the flurorescence (donor), that bind to adjacent targets?

A

FRET (fluorescent resonance energy transfer

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10
Q

The conversion of mRNA nucleotide sequences and the transfer RNA tRNA attached amino acids into a polypeptie is referred to as what?

A

translation

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11
Q

The copying of one strand of DNA into RNA by a process similar to that of DNA replication?

A

Transcription

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12
Q

What are UV spectrophotometry, microfluidics technology, and gel electrophoresis used for?

A

quantitating DNA concentration

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13
Q

What method uses antibodies bound to the surface of a microtiter well to detect the presence of human papilloma virus?

A

Hybrid capture assay

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14
Q

Singnal amplification system based on th eproprietary cleavase enzyme?

A

Cleavage-based amplification

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15
Q

Replication of a DNA or RNA target through an intermediate RNA product?

A

Nucleic Acid sequence-bases amplification (NASBA)

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16
Q

What determines the specificity in terms of the gene that is detected in the Southern Blot method?

A

Labeled probe

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17
Q

The steps to DNA isolation?

A

Cell lysis
precipitation
protein digestion

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18
Q

nitrogens with a single ring structure?

A

Cystosine and Thymine (pyrimadines)

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19
Q

nitrogens with a double ring structure?

A

Adanine and guanine (purines)

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20
Q

This enzymes breaks the sugar-phosphate backbone of DNA?

A

Endonuclease

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21
Q

These are endonulceases that recognize specific base sequences and break or restrict the DNA?

A

Restriction enzymes

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22
Q

Denaturation temp?
annealing temp?
DNA extension temp?

A

Denaturation 94-96 degrees
annealing 50-70 degrees
DNA extension 72 degrees

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23
Q

What is DNA—>Transcription—>RNA—>translation—->protein?

A

Central Dogma of molecular biology

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24
Q

Nucleic acids migrate toward which pole in electrophoresis?

A

anode

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25
Q

What dimultaneously detects two or more different targets from one polymerase chain reaction tube?

A

multiplex pcr

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26
Q

strand of the parent double helix that is read 5’ to 3’ and replicated discontinuously?

A

lagging strand

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27
Q

strand of parent double helix that is read 3’ to 5’ and replicated continuously?

A

leading strand

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28
Q

polyadenylic acid at the 3’ terminus of mRNA

A

poly A tail

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29
Q

Intermediate products of DNA synthesis on the lagging strand

A

Okazaki fragments

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30
Q

DNA that is generated from RNA prior to amplification is called what?

A

Complementary DNA (cDNA)

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31
Q

These occur only in microorganisms, recognize sequences of 4-15 bp in length, and cleave phophodiester bonds

A

restriction endonucleases

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32
Q

The most commonly used polymerasein the PCR procedure?

A

Taq polymerase

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33
Q

Stringent hybridization conditions for southern blotting?

A

High temp, low salt concentration

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34
Q

What wavelength of light is protein absorbed in our nucleic acid suspension?

A

280 nm

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35
Q

What enzyme generates single stranded DNA from ribosomal or messenger RNA?

A

DNA polymerase

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36
Q

Which enzyme would you use to join together 2 seperate DNA fragments?

A

DNA Ligase

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37
Q

What are histone modification, DNA methylation and Gene splicing?

A

forms of epigenetic changes

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38
Q

A region of DNA present in a mature strand of mRNA and can be translated into protein?

A

Exon

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39
Q

Non coding sequences in DNA that interrupt coding sequences

A

Intron

40
Q

Helicase, DNA template and DNA polymerasea are required for what?

A

DNA replication

41
Q

Cytosine and Guanine have how many hydrogen bonds?

A

3

42
Q

Adenine and thymine have how many hydrogen bonds?

A

2

43
Q

The RNA processing sections of nucleotides are removed by:

A

splicing

44
Q

A chromosome that has the centromere at the end of the chromosome is called:

A

telocentric

45
Q

A chromosome that has the centromere in the middle of the chromosome

A

metacentric

46
Q

A chromosome the entire length of which acts as a centromere

A

holocentric

47
Q

In DNA the absorptivity constant is what?

A

50 ug/mL

48
Q

In RNA the absorptivity constant is what?

A

40 ug/mL

49
Q

phenomenon associated with tri-nucleotide repeat disorders of earlier onset and increasing severity of disease with successive generations?

A

anticipation

50
Q

Method of DNA sequencing where dideocxy NTPs are incorporated into growing oligonucleotide chains, resultig in termination ddNTP’s

A

Dideoxy (Sanger) sequencing

51
Q

consisting of many clones, often reference to lymphoid cells

A

polyclonal

52
Q

Individual with 2 abnormal alleles, each with a different polymorphism or mutation.

A

Compound heterozygote

53
Q

mutation that is the change of a single base?

A

point mutation

54
Q

process of forming a double stranded molecule from a single stranded probe and a single stranded nucleic acid target based on complementary?

A

hybridization

55
Q

gene constitutively expressed inmost cells that can serve as an internal control for reverese transcriptase PCR?

A

housekeeping gene

56
Q

In real-time PCR, the cycle where the exponential phase of an amplification curve begins?

A

crossing point

57
Q

proofreads newly synthesized DNA and breaks the phosphodiester bond to replace it with the correct one?

A

exonulease

58
Q

adaptors that link condons in mRNA with amino acids?

A

tRNA

59
Q

an isothermal amplification reaction using nick translation and strand displacement…proceeds at 1 temperature

A

stand displacement amplification

60
Q

Target DNA is released from the cells bound to ssRNA probes. Used in the detection of HPV.

A

Hybrid capture signal amplification

61
Q

Single strand of a DNA double helix that is not used as a template for messenger RNA synthesis

A

sense strand

62
Q

single strand of a DNA double helix that is used as a template for messenger RNA synthesis

A

anti-sense strand

63
Q

breakage and fusion of separate chromosomes

A

translocation

64
Q

alteration in the nucleotide sequence that does not change the amino acid sequence

A

silent

65
Q

alteration in the nucleotide sequence that results in the substitution of an amino acid with one of similar properties

A

conservative

66
Q

alteration in the nuleotide sequence that results in the substitution of an amino acid with on of dissimilar properties

A

non-conservative or missense

67
Q

alteration in the nucleotide sequence that results in the substitution of a termination codon for an amino acid codon

A

non sense

68
Q

deletion or insertion of other than a multiple of three base pairs in coding sequence

A

frameshift

69
Q

method used to detect sequence alterations in DNA through differences in secondary structure due to differences in the nucleotide sequence?

A

Single strand conformation polymorphism

70
Q

polymorphism detection technique using immobilized target and sequence specific probes

A

allele-specific oligomer hybridization

71
Q

detection of point mutations or polymorphisms in DNA with primers designed so that the 3’ most base of the primer hybridies to the test nucleotide position in the template?

A

sequence-specific primer

72
Q

method using time of flight?

A

MALDI-TOF

73
Q

genetic locus that differs between two individuals?

A

informative locus

74
Q

< 1 % of the population have this

A

mutation

75
Q

> 1% of the population have this

A

polymorphism

76
Q

a procedure that identifies specific nucleotide sequences localized within cells in a tissue section?

A

FISH

in situ hybridization

77
Q

What molecular mechanism accounts from the emergence of methacillian resistance to staph aureus?

A

mutation of the Meca gene in the DNA that alters penicillin binding protein.

78
Q

Micro satellites that repeat 2-10 bps are also known as what?

A

STRs

79
Q

mini satellites that repeat 40-500 bp in length are called what?

A

VNTP’s

variable number of tandem repeats

80
Q

One base pair variation from a reference DNA sequence

A

SNP

single nucleotide polymorphism

81
Q

biological properties of an organism?

A

phenotype

82
Q

genetic DNA composition of an organism

A

genotype

83
Q

reference size standards used in STR analysis representing all possible products (alleles) for a given locus?

A

allelic ladders

84
Q

genetically linked set of alleles that are inherited together?

A

haplotype

85
Q

the donor organ and the recipient are genetically different?

A

allograft

86
Q

the level of detail with which an allele is determined?

A

resolution

87
Q

What are the most important polymorphic loci in the MHC?

A

HLA-B

HLA-DRB

88
Q

Chemical sequencing method based on controlled breakage of DNA?

A

Maxam-Gilbert method

89
Q

Each nucleotide is added in turn
only 1 in 4 will generate a light signal
the remaining nucleotides are removed enzymatically
the light signal is recorded on a pyrogram

A

pyrosequencing

90
Q

replication of a DNA or RNA target through a intermediate RNA product

A

transcription-mediated amplification

91
Q

inheritance pattern where the child of an affected and an unaffected carrier has a 50% probability of being affected and where the child of two affected individuals has a 100% probability of being affected
Cystic fibrosis and hemochromatosis

A

autosomal-recessive

92
Q

inheritance pattern where the child of an affected and an unaffected individual has a 50% probability of being affected
Factor V Ligand and Huntingtons Disease

A

autosomal dominant

93
Q

Having genetic components located on the X or Y chromosome

hemophilia

A

sex-linked

94
Q

The frequency of expression of a disease phenotype in individuals with a gene lesion

A

penetrance

95
Q

mutated gene that promotes proliferation and survival of cancer cells

A

oncogene

96
Q

self directed cell death

A

apoptosis

97
Q

the normal intrachromosomal rearrangements in B and T lymphocytes as well as the abnormal interchromsomal translocation that can occur in any cell type

A

V(D)J recombination

Molecular Diagnostics 2018 (1 decks)

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