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MLS 4151 - Molecular Diagnostics > Wk. 1 | Applications + Nucleic Acids > Flashcards

Wk. 1 | Applications + Nucleic Acids Flashcards

1
Q

Molecular Diagnostics is a combination of these three things

A

Lab medicine
Knowledge of molecular genetics
Technology

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2
Q

5 uses for nucleic acid testing

A
  1. Establish dx
  2. Classification
  3. Prognosis
  4. Monitor therapy
  5. Assess drug sensitivity/resistance
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3
Q

Applications of molecular dx in the clinical lab

A

Genetic disorders/inheritance
Mutations + cancer
Infectious diseases
Endocrine disorders
Cardio disorders
Neuro disorders

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4
Q

Cancer examples

A

B and T cell lymphomas
Chronic Myelogenous leukemia
Ewings sarcoma
Rhabdomyosarcoma

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4
Q

Infectious disease examples

A

Viruses
- EBV
- CMV
- HIV

Bacteria
- M. tuberculosis
- Chlamydia
- Neisseria

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4
Q

Inherited diseases examples

A

Fragile X
Leiden Factor V
Hereditary hemochromatosis

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4
Q

DNA ID examples

A

Organ transplant
Paternity testing
Family analysis of pedigrees
Forensics

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4
Q

All infectious agents contain ___

A

nucleic acids

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5
Q

Advantages of molecular diagnostics

A
  • Enhanced specificity and sensitivity
  • Detects single cells
  • Viral Load: can detect as few as 50 copies of DNA/RNA
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6
Q

Limitations of molecular dx

A
  • High cost, low reimbursement
  • Contamination causes false positives
  • Space, equipment and training
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7
Q

Appropriate samples for mol. dx

A
  1. Peripheral blood (50 uL WBCs)
  2. Sperm
  3. Urine
  4. Saliva
  5. Hair follicle
  6. Bone
  7. Teeth
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8
Q

_____ has as much DNA in 5 uL as 50 uL of blood

A

Sperm

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9
Q

Mol dx needs samples containing

A

any cell with a nucleus

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10
Q

What cell does not have a nucleus

A

RBCs

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11
Q

Three types of genetic disorders

A

Chromosomal
Monogenic
Polygenic

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12
Q

Chromosomal Disorders are

A

a loss, gain, or abnormal arrangement resulting in too much/little of genetic material

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13
Q

Monogenic Disorders are the result of

A

a single mutant gene

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14
Q

What genetic disorder follows traditional Mendelian inheritance

A

monogenic disorders (10/1000 births)

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15
Q

Polygenic disorders

A
  • result of multiple genetic factors
  • does NOT follow mendelian inheritance
  • examples include chronic adult diseases and congenital malformations
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16
Q

Common mutations are referred to as

A

polymorphisms

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17
Q

Fragment length variations

A

Part of a mutation
- Analyzed by endonuclease digestion

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18
Q

Hyper variable regions of DNA are

A

Many copies of same DNA sequence
- Mini and microsatellites

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19
Q

Minisatellite

A

Variable number tandem repeats
- 10-100 bp in length

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20
Q

Microsatellite

A

Di, tri, or tetra nucleotide repeat sequences

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21
Q

Tri-nucleotide Repeat

A

Common in everyone, expansion of repeat beyond normal results in disease such as Fragile X or Huntington’s

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22
Q

Three types of mutations

A

Germline (inheritable)
Acquired
Point mutations (single nucleotide)

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23
Q

Point mutations can either be _____ or _______

A

Transition: purine -> purine
Transversion: purine -> pyrimidine

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24
Q

Direct tests depend on and are useful for

A

depend mutation or gene being known
- good for detecting mutations or foreign DNA sequences

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25
Q

Indirect molecular tests

A

sequence is unknown
- good for tracking inheritance and gene mapping

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26
Q

Disorders that can be analyzed with mol dx

A
  1. Endocrine disorders
  2. Cardiovascular disease
  3. Human neoplastic disease (accumulation of several somatic mutations)
  4. Oncogenes
  5. Antioncogenes
  6. DNA damage
  7. Familial cancer
27
Q

Oncogenes

A

normally expressed in prolif. cells but associated with tumor formation
- activated = proto-oncogene

28
Q

Anti-oncogenes

A

Tumor supressor genes
- results in loss of function

29
Q

Cell Elements involved in growth

A

Nucleus
Ribosomes
ER
Golgi
Vacuoles
Centrioles

30
Q

Cell Elements involved in metabolism or energy

A

Membrane
Vacuoles
Mitochondrion
Chlorplast
Cytoplasm

31
Q

Function of the nucleus

A
  • Genetic info storage system (where DNA is located)
  • Ribosome synthesis
32
Q

Subcomponents of nucleus

A
  • Chromatin and chromosomes
  • Nucleolus
  • Nucleoplasm
33
Q

Nucleic acid structure

A

Sugar
Phosphate
Nucleotide base

34
Q

Each nucleic acid has millions of

A

nucleic acids bonded to it

35
Q

___________ is the coding information

A

order of the nucleotide bases

36
Q

What did Chargaff discover

A

the number of purines is not equal to the number of pyrimidines

37
Q

Nucleosides

A

Deoxyribose sugar + Base

38
Q

Nucleotides

A

Phosphate + Deoxyribose sugar + Base

39
Q

The building blocks of nucleic acids

A

Deoxynucleotides

40
Q

________ are used to store and transfer chemical energy like ATP

A

Deoxynucleotides

41
Q

A gene is

A

a segment of DNA that codes for a protein which codes for a trait

42
Q

A _____ codes for traits such as skin tone or eye color

43
Q

A chromosome is

A

a highly ordered structure of a single dsDNA molecule wound very tightly around histones

44
Q

Purines

A

Adenine
Guanine

45
Q

Pyrimidines

A

Thymine
Cytosine

46
Q

DNA strands have polarity based on

A

the phosphodiester backbone

47
Q

Nucleotide bases form complementary pairs via

A

hydrogen bonds

48
Q

Chargaff discovered that the number of ___ = ____ and the number of ____ = _____

A

of A = # of T
# of G = # of C

49
Q

the nucleotide building blocks are

A

triphosphate

50
Q

a polynucleotide is read from the

A

5’ to 3’

51
Q

DNA replication begins with

A

hydrogen bonds breaking

52
Q

RNA differs from DNA in these 3 ways

A
  1. single stranded
  2. ribose sugar
  3. uracil instead of thymine
53
Q

3 important types of RNA in humans

A

messenger RNA (mRNA)
ribosomal RNA (rRNA)
transfer RNA (tRNA)

54
Q

Qualities of RNA replication

A
  • No priming required
  • Slower (50-100 bp/sec vs. 1000/sec)
  • More initiation sites
  • Lower fidelity
55
Q

RNA replication process

A
  • Begins at the promotor
  • RNA polymerase and accessory proteins assemble on DNA
  • First base of synthesized RNA is +1
56
Q

Combos of chemical modification of histones result in

A

varying responses such as:
- acetylation
- phosphorylation
- methylation, etc.

57
Q

RNA structure

A
  • Not linear, folds on itself forming hairpin loops
  • Extensive regions of complementary AU/GC pairs
    Adopts a helical dtructure in base-paired regions
58
Q

RNA Function(s)

A
  • relays info stored in cellular DNA from the nucleus to other parts of the cell
  • protein production
59
Q

RNA involved in protein synthesis is found in

A

the cytoplasm

60
Q

RNA is synthesized in

A

the nucleus

61
Q

mRNA function

A

carries genetic info out of the nucleus for protein synthesis

62
Q

tRNA function

A

decodes info, transports aminos to the site of protein synthesis

63
Q

This type of RNA constitutes 50% of a ribosome

A

ribosomal RNA

64
Q

catalytic RNA is involved in

A

many reactions in cell cytoplasm

65
Q

the smallest RNA is

66
Q

Diploid means

A

you have two full complements of the human genome organized into 23 chromosomes
- 1 maternal
- 1 paternal

67
Q

Chromatin is

A

Nuclear DNA and associated structural proteins such as histone

68
Q

___ condensation changes with the cell cycle

69
Q

Euchromatin

A
  • rich in genes
  • less compact
70
Q

Heterochromatin

A
  • poor in genes
  • tightly compact

MLS 4151 - Molecular Diagnostics (3 decks)

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