Molecular Diagnostics: Fundamentals, Methods, and Clinical application
6/7
Study online at https://quizlet.com/_g0jvtu
1. Multiplex PCR: Amplification of more than one target in a single PCR reaction
2. Signal Amplification: An approach to increase the sensitivity of target detection by amplification of the
probe signal rather than the target
3. Quantitative PCR/Real-time PCR (qPCR): PCR performed in an instrument that can measure the
formation of amplicons in real time
4. Nested PCR: Amplification of the same target in two PCR reactions, using the product of the first amplification
as the template for a second round of amplification with primers designed to hybridize within the amplicon formed by
the first primer set.
5. Transcription-mediated amplification (TMA): An isothermal amplification using an RNA inter-
mediate
6. Amplification that uses extender probes as signal amplifiers: Branched DNA assay
(bDNA)
7. Molecular beacons: A self-annealing probe detection system used in real-time PCR
8. Kinethochore: A protein structure that attaches the centromeres of chromosomes to the spindle apparatus
during cell division
*Protein complex at the centromere
9. Telomere: end of chromosome
*Repeat sequences located at the end of a chromosome
10. Centromere: A repetitive alpha satellite where the chromosome attaches to the spindle fibers (through the
kinetochore)
11. Ring chromosome: A circular structure formed from the fusion of the ends of a chromosome or chromo-
some fragment
12. Isochromosome: Chromosome containing two copies of the same arm and loss of the other arm
13. Derivative chromosome: An abnormal chromosome comprising rearranged parts from two or more
unidentified chromosomes jointed to a normal chromosome
14. Polymorphism: A difference in DNA sequence found in 1-2% or more of a given population
A variation in the population that affects 1-2% of the population
15. Aneuploidy: More than two of each chromosome
(increased or decreased chromosomes)
16. Mutation: A rare variation that affects a very small number of individuals
(a change in order or sequence of nucleotides in DNA)
1/8
, Molecular Diagnostics: Fundamentals, Methods, and Clinical application
6/7
Study online at https://quizlet.com/_g0jvtu
17. Translocation: Breakage and fusion of separate chromosomes
18. What are the components involved in PCR?: 1.) Template
2.) Primers
3.) Taq
4.) dNTPS (A,G,C,T)
19. Primers: Single stranded 18-30 bp DNA fragments complementary to sequences flanking the region to be
amplified
20. What determines the specificity of the PCR reaction?: Primers
21. Uses RNA:DNA hybrids bound by labeled monoclonal antibodies: Hybrid capture
22. Hybrid capture is used to test for: HPV, HBV, and CMV
23. Branched DNA is used to test for: HBV, HCV, HIV-1
24. Bound probes are ligated and become templates for the binding of more
probes: Ligase chain reaction
25. LCR is used to test for: C. trachomatis, N. gonorrhoea, and sickle cell mutation
26. Where sequences have characteristic melting temperatures: Melt curve
27. DNA specific dyes used in qPCR: EtBr
SYBR green
28. Hybridization probes: (qPCR): Cleavage-based (TaqMan)
Displaceable (Molecular beacons, FRET)
29. Threshold cycle: The cycle at which fluorescence crosses the threshold fluorescence level
30. Exponential: Doubling each cycle
31. True or false: PCR products grow in an exponential fashion: true
32. Thermal cycler: Changes temperatures in a block or chamber holding the samples
33. Thermostable polymerases: used to withstand the repeated high temps
34. Amplicon: PCR product
35. The number of amplicons: 2^N
36. Denaturation: 90-96 degrees C, 20 seconds
37. Annealing: 40-68 degrees C, 20 seconds
38. Extension: 70-75 degrees C, 30 seconds
39. How many PCR cycles does an amplification program consist of?: 20-50
40. define: Mutation: A permeant, transmissible change in the genetic material, usually in a single gene
2/8
6/7
Study online at https://quizlet.com/_g0jvtu
1. Multiplex PCR: Amplification of more than one target in a single PCR reaction
2. Signal Amplification: An approach to increase the sensitivity of target detection by amplification of the
probe signal rather than the target
3. Quantitative PCR/Real-time PCR (qPCR): PCR performed in an instrument that can measure the
formation of amplicons in real time
4. Nested PCR: Amplification of the same target in two PCR reactions, using the product of the first amplification
as the template for a second round of amplification with primers designed to hybridize within the amplicon formed by
the first primer set.
5. Transcription-mediated amplification (TMA): An isothermal amplification using an RNA inter-
mediate
6. Amplification that uses extender probes as signal amplifiers: Branched DNA assay
(bDNA)
7. Molecular beacons: A self-annealing probe detection system used in real-time PCR
8. Kinethochore: A protein structure that attaches the centromeres of chromosomes to the spindle apparatus
during cell division
*Protein complex at the centromere
9. Telomere: end of chromosome
*Repeat sequences located at the end of a chromosome
10. Centromere: A repetitive alpha satellite where the chromosome attaches to the spindle fibers (through the
kinetochore)
11. Ring chromosome: A circular structure formed from the fusion of the ends of a chromosome or chromo-
some fragment
12. Isochromosome: Chromosome containing two copies of the same arm and loss of the other arm
13. Derivative chromosome: An abnormal chromosome comprising rearranged parts from two or more
unidentified chromosomes jointed to a normal chromosome
14. Polymorphism: A difference in DNA sequence found in 1-2% or more of a given population
A variation in the population that affects 1-2% of the population
15. Aneuploidy: More than two of each chromosome
(increased or decreased chromosomes)
16. Mutation: A rare variation that affects a very small number of individuals
(a change in order or sequence of nucleotides in DNA)
1/8
, Molecular Diagnostics: Fundamentals, Methods, and Clinical application
6/7
Study online at https://quizlet.com/_g0jvtu
17. Translocation: Breakage and fusion of separate chromosomes
18. What are the components involved in PCR?: 1.) Template
2.) Primers
3.) Taq
4.) dNTPS (A,G,C,T)
19. Primers: Single stranded 18-30 bp DNA fragments complementary to sequences flanking the region to be
amplified
20. What determines the specificity of the PCR reaction?: Primers
21. Uses RNA:DNA hybrids bound by labeled monoclonal antibodies: Hybrid capture
22. Hybrid capture is used to test for: HPV, HBV, and CMV
23. Branched DNA is used to test for: HBV, HCV, HIV-1
24. Bound probes are ligated and become templates for the binding of more
probes: Ligase chain reaction
25. LCR is used to test for: C. trachomatis, N. gonorrhoea, and sickle cell mutation
26. Where sequences have characteristic melting temperatures: Melt curve
27. DNA specific dyes used in qPCR: EtBr
SYBR green
28. Hybridization probes: (qPCR): Cleavage-based (TaqMan)
Displaceable (Molecular beacons, FRET)
29. Threshold cycle: The cycle at which fluorescence crosses the threshold fluorescence level
30. Exponential: Doubling each cycle
31. True or false: PCR products grow in an exponential fashion: true
32. Thermal cycler: Changes temperatures in a block or chamber holding the samples
33. Thermostable polymerases: used to withstand the repeated high temps
34. Amplicon: PCR product
35. The number of amplicons: 2^N
36. Denaturation: 90-96 degrees C, 20 seconds
37. Annealing: 40-68 degrees C, 20 seconds
38. Extension: 70-75 degrees C, 30 seconds
39. How many PCR cycles does an amplification program consist of?: 20-50
40. define: Mutation: A permeant, transmissible change in the genetic material, usually in a single gene
2/8
