Molecular Diagnostics Fundamentals, Methods and Clinical applications
terms
Study online at https://quizlet.com/_gl4030
1. A site (adjacent site): Location of incoming tRNA binding in the ribosome complex for acceptance of the
growing peptide
2. abasic site: A position on the DNA sugar-phosphate backbone where the ribose sugar doesn't carry a nitrogen
base
3. codon: three-nucleotide sequence on messenger RNA that codes for a single amino acid into protein
4. absorptivity constant: characteristerm-0tic tendency of a substance to absorb light at a given wavelength;
used in quantifying nucleic acids, the absorptivity constants of DNA and RNA are (50 ug/mL)/ absorbance unit and (40
ug/mL)/absorbance unit, respectively, at 260-nm wavelength
5. acrocentric: having the centromere closer to one end of the chromosome than the other
6. Adenine: One of the common nitrogen bases in DNA and RNA
7. Adenosine: One of the common nucleosides in DNA and RNA
8. affinity maturation: Selection of B cells expressing antibodies with greater affinity of the antigen
9. Agarose: Polymer of agarobiose that when hydrated, forms a gel frequently used for sieving nucleic acids
10. Alignment: Comparison or lining up of two or more nucleic acid or protein sequences to achieve the maxima
number of identical positions
11. Alkaline phosphatase: An enzyme frequently used to generate signals from chemiluminescent or chro-
mogenic substrates
12. Allele: Different version of the same sequence, gene, or locus
13. Allele Dropout: missing sequence data due to loss of DNA fragments during library preparation
14. Allele-specific oligomer hybridization: mutation/polymorphism detection technique using im-
mobilized target and sequence-specific probes
15. allelic discrimination: mutation/polymorphism detection using real-time PCR and fluorogenic probes
16. allelic exclusion: Expression of a gene on only one of two homologous chromosomes, with the other not
expressed
17. Allelic Ladder: a set of PCR amplicons of a VNTR or STR that represents all possible alleles in a population
18. Alloantibodies: antibodies that recognize human antigens
19. allogenic: Genetically different individuals of the same species
20. allograft: Transplanted organ from a genetically different donor
21. Alpha phosphate: phosphate group closest to the ribose sugar in a nucleotide
22. alpha satellite: highly repetitive sequences at centromere
23. alternative splicing: Removal of introns from RNA using different breakpoints
, Molecular Diagnostics Fundamentals, Methods and Clinical applications
terms
Study online at https://quizlet.com/_gl4030
24. Alu elements: short interspersed nucleotide sequences containing recognition sites for the Alu restriction
enzyme
25. Ambiguity: Recognition of two or more antigens by the same antibody
26. amelogenin locus: a gene located on the X and Y chromosome with an XY-specific polymorphism
27. aminoacyl-tRNA synthetases: Enzymes that covalently attach the appropriate amino acid to its tRNA
28. Amino Acid tRNA synthetase: one of 20 enzymes that attach the appropriate amino acid to its
anticodon-containing tRNA
29. Amino acids: nitrogen-containing molecules with specific biochemical properties that are the building blocks
of protein
30. Amino-terminal: the end of a protein or peptide containing the amino group of the amino acid, usually
considered the beginning of the protein's amino acid sequence
31. Ammonium persulfate: APS; with TEMED, catalyzes polymerization of acrylamide gels
32. Amplicon: the product of a PCR reaction
33. Amplification: Replication, copying
34. amplification control: template sequences that are always present; used to confirm the functional
competence of the reaction mix
35. Amplification program: conditions under which a PCR reaction occurs, including denaturation, anneal-
ing, and extension temperatures and times
36. Amplified Fragment Length Polymorphism: AFLP; analysis of polymorphic DNA by amplifica-
tion of selected regions and resolving the amplified products by size
37. Analyte measurement range: AMR; the range within which a specimen may be tested directly
(without dilution or concentration) for an analyte
38. Analyte Specific Reagents: ASR; test components that detect a specific target
39. Analytic accuracy: production of correct (true-positive and true-negative) results
40. Analytic sensitivity: lower limit of detection of an analyte
41. Analytic specificity: Ability to detect only the analyte and not nonspecific targets
42. Anaphase: Stage in mitosis or meiosis where replicated chromosomes separate
43. ancestral haplotype: the haplotype in which a mutation originally occurred
44. Anderson reference: sequence of the mitochondrial hypervariable regions used as a reference for
defining polymorphisms
45. Aneuploid: Having an aberrant number of chromosomes per nucleus, caused by genome mutations
terms
Study online at https://quizlet.com/_gl4030
1. A site (adjacent site): Location of incoming tRNA binding in the ribosome complex for acceptance of the
growing peptide
2. abasic site: A position on the DNA sugar-phosphate backbone where the ribose sugar doesn't carry a nitrogen
base
3. codon: three-nucleotide sequence on messenger RNA that codes for a single amino acid into protein
4. absorptivity constant: characteristerm-0tic tendency of a substance to absorb light at a given wavelength;
used in quantifying nucleic acids, the absorptivity constants of DNA and RNA are (50 ug/mL)/ absorbance unit and (40
ug/mL)/absorbance unit, respectively, at 260-nm wavelength
5. acrocentric: having the centromere closer to one end of the chromosome than the other
6. Adenine: One of the common nitrogen bases in DNA and RNA
7. Adenosine: One of the common nucleosides in DNA and RNA
8. affinity maturation: Selection of B cells expressing antibodies with greater affinity of the antigen
9. Agarose: Polymer of agarobiose that when hydrated, forms a gel frequently used for sieving nucleic acids
10. Alignment: Comparison or lining up of two or more nucleic acid or protein sequences to achieve the maxima
number of identical positions
11. Alkaline phosphatase: An enzyme frequently used to generate signals from chemiluminescent or chro-
mogenic substrates
12. Allele: Different version of the same sequence, gene, or locus
13. Allele Dropout: missing sequence data due to loss of DNA fragments during library preparation
14. Allele-specific oligomer hybridization: mutation/polymorphism detection technique using im-
mobilized target and sequence-specific probes
15. allelic discrimination: mutation/polymorphism detection using real-time PCR and fluorogenic probes
16. allelic exclusion: Expression of a gene on only one of two homologous chromosomes, with the other not
expressed
17. Allelic Ladder: a set of PCR amplicons of a VNTR or STR that represents all possible alleles in a population
18. Alloantibodies: antibodies that recognize human antigens
19. allogenic: Genetically different individuals of the same species
20. allograft: Transplanted organ from a genetically different donor
21. Alpha phosphate: phosphate group closest to the ribose sugar in a nucleotide
22. alpha satellite: highly repetitive sequences at centromere
23. alternative splicing: Removal of introns from RNA using different breakpoints
, Molecular Diagnostics Fundamentals, Methods and Clinical applications
terms
Study online at https://quizlet.com/_gl4030
24. Alu elements: short interspersed nucleotide sequences containing recognition sites for the Alu restriction
enzyme
25. Ambiguity: Recognition of two or more antigens by the same antibody
26. amelogenin locus: a gene located on the X and Y chromosome with an XY-specific polymorphism
27. aminoacyl-tRNA synthetases: Enzymes that covalently attach the appropriate amino acid to its tRNA
28. Amino Acid tRNA synthetase: one of 20 enzymes that attach the appropriate amino acid to its
anticodon-containing tRNA
29. Amino acids: nitrogen-containing molecules with specific biochemical properties that are the building blocks
of protein
30. Amino-terminal: the end of a protein or peptide containing the amino group of the amino acid, usually
considered the beginning of the protein's amino acid sequence
31. Ammonium persulfate: APS; with TEMED, catalyzes polymerization of acrylamide gels
32. Amplicon: the product of a PCR reaction
33. Amplification: Replication, copying
34. amplification control: template sequences that are always present; used to confirm the functional
competence of the reaction mix
35. Amplification program: conditions under which a PCR reaction occurs, including denaturation, anneal-
ing, and extension temperatures and times
36. Amplified Fragment Length Polymorphism: AFLP; analysis of polymorphic DNA by amplifica-
tion of selected regions and resolving the amplified products by size
37. Analyte measurement range: AMR; the range within which a specimen may be tested directly
(without dilution or concentration) for an analyte
38. Analyte Specific Reagents: ASR; test components that detect a specific target
39. Analytic accuracy: production of correct (true-positive and true-negative) results
40. Analytic sensitivity: lower limit of detection of an analyte
41. Analytic specificity: Ability to detect only the analyte and not nonspecific targets
42. Anaphase: Stage in mitosis or meiosis where replicated chromosomes separate
43. ancestral haplotype: the haplotype in which a mutation originally occurred
44. Anderson reference: sequence of the mitochondrial hypervariable regions used as a reference for
defining polymorphisms
45. Aneuploid: Having an aberrant number of chromosomes per nucleus, caused by genome mutations
