Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

Wk. 1 | Applications + Nucleic Acids Flashcards

(74 cards)

Start Studying
1
Q

Molecular Diagnostics is a combination of these three things

A

Lab medicine
Knowledge of molecular genetics
Technology

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

5 uses for nucleic acid testing

A
  1. Establish dx
  2. Classification
  3. Prognosis
  4. Monitor therapy
  5. Assess drug sensitivity/resistance
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Applications of molecular dx in the clinical lab

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Cancer examples

A

B and T cell lymphomas
Chronic Myelogenous leukemia
Ewings sarcoma
Rhabdomyosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Infectious disease examples

A

Viruses
- EBV
- CMV
- HIV

Bacteria
- M. tuberculosis
- Chlamydia
- Neisseria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Inherited diseases examples

A

Fragile X
Leiden Factor V
Hereditary hemochromatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

DNA ID examples

A

Organ transplant
Paternity testing
Family analysis of pedigrees
Forensics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

All infectious agents contain ___

A

nucleic acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Limitations of molecular dx

A
  • High cost, low reimbursement
  • Contamination causes false positives
  • Space, equipment and training
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

Sperm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Mol dx needs samples containing

A

any cell with a nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What cell does not have a nucleus

A

RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Three types of genetic disorders

A

Chromosomal
Monogenic
Polygenic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Chromosomal Disorders are

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Monogenic Disorders are the result of

A

a single mutant gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What genetic disorder follows traditional Mendelian inheritance

A

monogenic disorders (10/1000 births)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Polygenic disorders

A
  • result of multiple genetic factors
  • does NOT follow mendelian inheritance
  • examples include chronic adult diseases and congenital malformations
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Common mutations are referred to as

A

polymorphisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Fragment length variations

A

Part of a mutation
- Analyzed by endonuclease digestion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Hyper variable regions of DNA are

A

Many copies of same DNA sequence
- Mini and microsatellites

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Minisatellite

A

Variable number tandem repeats
- 10-100 bp in length

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Microsatellite

A

Di, tri, or tetra nucleotide repeat sequences

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Tri-nucleotide Repeat
Common in everyone, expansion of repeat beyond normal results in disease such as Fragile X or Huntington's
22
Three types of mutations
Germline (inheritable) Acquired Point mutations (single nucleotide)
23
Point mutations can either be _____ or _______
Transition: purine -> purine Transversion: purine -> pyrimidine
24
Direct tests depend on and are useful for
depend mutation or gene being known - good for detecting mutations or foreign DNA sequences
25
Indirect molecular tests
sequence is unknown - good for tracking inheritance and gene mapping
26
Disorders that can be analyzed with mol dx
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
Oncogenes
normally expressed in prolif. cells but associated with tumor formation - activated = proto-oncogene
28
Anti-oncogenes
Tumor supressor genes - results in loss of function
29
Cell Elements involved in growth
Nucleus Ribosomes ER Golgi Vacuoles Centrioles
30
Cell Elements involved in metabolism or energy
Membrane Vacuoles Mitochondrion Chlorplast Cytoplasm
31
Function of the nucleus
- Genetic info storage system (where DNA is located) - Ribosome synthesis
32
Subcomponents of nucleus
- Chromatin and chromosomes - Nucleolus - Nucleoplasm
33
Nucleic acid structure
Sugar Phosphate Nucleotide base
34
Each nucleic acid has millions of
nucleic acids bonded to it
35
___________ is the coding information
order of the nucleotide bases
36
What did Chargaff discover
the number of purines is not equal to the number of pyrimidines
37
Nucleosides
Deoxyribose sugar + Base
38
Nucleotides
Phosphate + Deoxyribose sugar + Base
39
The building blocks of nucleic acids
Deoxynucleotides
40
________ are used to store and transfer chemical energy like ATP
Deoxynucleotides
41
A gene is
a segment of DNA that codes for a protein which codes for a trait
42
A _____ codes for traits such as skin tone or eye color
gene
43
A chromosome is
a highly ordered structure of a single dsDNA molecule wound very tightly around histones
44
Purines
Adenine Guanine
45
Pyrimidines
Thymine Cytosine
46
DNA strands have polarity based on
the phosphodiester backbone
47
Nucleotide bases form complementary pairs via
hydrogen bonds
48
Chargaff discovered that the number of ___ = ____ and the number of ____ = _____
of A = # of T # of G = # of C
49
the nucleotide building blocks are
triphosphate
50
a polynucleotide is read from the
5' to 3'
51
DNA replication begins with
hydrogen bonds breaking
52
RNA differs from DNA in these 3 ways
1. single stranded 2. ribose sugar 3. uracil instead of thymine
53
3 important types of RNA in humans
messenger RNA (mRNA) ribosomal RNA (rRNA) transfer RNA (tRNA)
54
Qualities of RNA replication
- No priming required - Slower (50-100 bp/sec vs. 1000/sec) - More initiation sites - Lower fidelity
55
RNA replication process
- Begins at the promotor - RNA polymerase and accessory proteins assemble on DNA - First base of synthesized RNA is +1
56
Combos of chemical modification of histones result in
varying responses such as: - acetylation - phosphorylation - methylation, etc.
57
RNA structure
- Not linear, folds on itself forming hairpin loops - Extensive regions of complementary AU/GC pairs Adopts a helical dtructure in base-paired regions
58
RNA Function(s)
- relays info stored in cellular DNA from the nucleus to other parts of the cell - protein production
59
RNA involved in protein synthesis is found in
the cytoplasm
60
RNA is synthesized in
the nucleus
61
mRNA function
carries genetic info out of the nucleus for protein synthesis
62
tRNA function
decodes info, transports aminos to the site of protein synthesis
63
This type of RNA constitutes 50% of a ribosome
ribosomal RNA
64
catalytic RNA is involved in
many reactions in cell cytoplasm
65
the smallest RNA is
tRNA
66
Diploid means
you have two full complements of the human genome organized into 23 chromosomes - 1 maternal - 1 paternal
67
Chromatin is
Nuclear DNA and associated structural proteins such as histone
68
___ condensation changes with the cell cycle
chromatin
69
Euchromatin
- rich in genes - less compact
70
Heterochromatin
- poor in genes - tightly compact

MLS 4151 - Molecular Diagnostics (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions