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Clinical Chem I > Intro To Molecular Diagnostics > Flashcards

Intro To Molecular Diagnostics Flashcards

1
Q

What is the central dogma of molecular biology?

A

DNA making RNA and RNA making proteins

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2
Q

An individual’s coded genetic information is hardwired into what?

A

DNA

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3
Q

What is the coded genetic information hardwired into DNA transcribed into?

A

Individual transportable pieces of messenger RNA

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4
Q

What synthesis does mRNA direct?

A

The synthesis of a particular protein based on the code it contains from transcribed genetic material

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5
Q

What is a genotype?

A

The genetic makeup of an individual.

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6
Q

Another way of saying genetic makeup

A

Primary nucleotide sequence

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7
Q

How many alleles if a gene are they! What are their sources?

A

Two. One from mother and ine from father

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8
Q

What do you understand by phenotype?

A

Phenotype is the expressed physical characteristics of a gene product and its biological function

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9
Q

What determines one’s phenotype?

A

Their genotype

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10
Q

Do alterations in genotype change phenotype?

A

They may or may not

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11
Q

What is DNA?

A

Deoxyribonucleic acid that contains genetic material

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12
Q

What is the structure of a DNA?

A

A DNA is a polymer of nucleotides

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13
Q

What does a nucleotide consist of?

A

Deoxyribose sugar
Phosphate residual
Nitrogenous base

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14
Q

What nitrogenous bases are seen in DNA?

A

A - Adenine
G - Guanine
T - Thymine
C - Cytosine

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15
Q

Identify the two bonds a DNA polymer is assembled by?

A

Intra-strand phosphodiester bond

Interstrand hydrogen bond

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16
Q

What is the purpose of intra-strand phosphodiester bond in assembling DNA polymers?

A

It links the 5’ phosphate group of one nucleotide with the 3’ hydroxyl group of the next nucleotide creating the DNA polymers sugar phosphate backbone

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17
Q

What bond is responsible for the sugar phosphate backbone of a DNA polymer?

A

Intra strand phosphodiester bond

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18
Q

What is the purpose of interstrand hydrogen bonds in assembling DNA polymer?

A

It gives DNA it’s helical conformation by joining A to T bases with 2 hydrogen bonds and G to C bases with 3 hydrogen bonds

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19
Q

How is RNA different in structure from DNA?

A
  • RNA has ribose sugar structure

- Exists in a single strand folded into complicated 3-D structure for function and integrity

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20
Q

What are the nitrogenous bases seen in RNA?

A

A - Adenine
U - Uracil
C - Cytosine
G - Guanine

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21
Q

How does RNA differ from DNA in terms of nitrogenous bases?

A

DNA has thymine that RNA doesn’t and RNA has uracil that DNA doesn’t.

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22
Q

How many pairs of chromosomes are there?

A

23 pairs, 46 chromosomes in total.

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23
Q

With the help of what are chromosomes highly condensed?

A

With the help of associated structural proteins, mainly histones.

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24
Q

What is chromatin?

A

Nuclear DNA in conjugation with associated structural proteins

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25
Define a nucleosome.
The basic level of chromatin organization called beads on a string
26
In what phase are chromosomes in their most compact state?
Metaphase
27
How should DNA be during replication and gene transcription?
Unpacked
28
What are the 3 purposes of chromatin?
- Fit long strands of DNA in nucleus - Protect delicate DNA from damage - Inactivation of genes
29
Is DNA replication conservative?
No, semi conservative
30
What does is the semi-conservative feature of DNA replication?
Each new dsDNA consists of 1 parent strand (template) and 1 daughter strand (new)
31
DNA replication is coordinated by?
Several DNA-binding proteins and emzymes
32
What enzyme separates the two strands of DNA?
Helicase
33
What is the function of the helicase?
Seperating the two strands of DNA
34
What enzyme participates in the underwinding of DNA?
Topoisomerase
35
What is the function of topoisomerase in DNA replication?
It underwinds DNA
36
How does ss-binding proteins help in DNA replication?
By preventing reannealing of ssDNA
37
What protein prevents reannealing of ssDNA?
Single stranded binding protein
38
What is DNA polymerase?
It is the enzyme that synthesizes nucleotides and links them based on template strands
39
What is the rate at which DNA polymerase synthesizes nucleotides linking them based on template strands?
1000/s
40
What is the primase in DNA replication?
The enzyme on lagging strand that synthesizes a starting nucleotide primer for Okazaki fragments
41
DNA polymerase only synthesizes DNA from what prime ends?
5’ to 3’
42
From what end to what end is the lagging strand?
3’ to 5’
43
In the lagging strand, how can DNA be synthesized since it is from 3’ to 5’ and DNA polymerase synthesizes from 5’ to 3’?
DNA must be synthesized discontinuously in short segments
44
What is the function of the ligase?
Enzyme on lagging strand linking Okazaki fragments together
45
What the most important feature in DNA replication?
Integrity
46
What are mutations in DNA replication?
Mutations are errors in nucleotide formation.
47
What property does DNA polymerase have that helps counteract the mutations that happen in replication?
Exonuclease activity
48
What does the exonuclease activity of DNA polymerase achieve?
- Recognizes and cuts out wrong nucleotide. (Proof-reading)
49
How are mutations reduced after proof reading function of DNA polymerase?
One nucleotide error happens every 10^5 nucleotide incorporated, but with proof reading of DNA polymerase, one error happens per 10^9/10 nucleotides replicated
50
How many errors are seen per cycle after proof reading?
0.3 to 3
51
Why are mutations dangerous?
Mutations of important genes like GI,or surprises or genes or proto-oncogenes may lead to cancer
52
What cells are prone to grow cancer? And why?
Cells with increased exposure to carcinogens. They have a high turnover rate, so more cell cycles and more chance for errors to happen
53
What is PCR?
Polymerase chain reaction. An artificial replication technique that is fast and inexpensive used to copy and amplify specific DNA fragments
54
This fast and inexpensive technique is used to copy and amplify specific DNA fragments.
PCR
55
What are the components in PCR system?
DNA polymerase Primers dNTPs
56
What component of the PCR systems makes it require high levels of heat to function?
DNA polymerase which is heat resistant
57
What are primers in PCR and what is their use?
Short, manufactured single strings of nucleotides used to define a specific DNA segment for amplification
58
What is the use of dNTPs?
Nucleotide building blocks used to synthesize new DNA
59
How many cycles does the PCR system have? How many steps?
30-40 cycles. 3 steps
60
Describe the three steps in PCR?
Denaturation: separating double strand at high temp (94-98) Annealing: primers binding to single strand template (50-65) Extension: DNA polymerase makes new DNA strands (70-80)
61
What is the end product of PCR?
Large amount f specific DNA fragments of target
62
What is the difference between DNA and protein that calls for transcription?
DNA stored genetic information but protein carries out the function
63
How is RNA necessary for transcription?
RNA is a necessary intermediate messenger carrying specific instructions to the factories that synthesize proteins
64
Define transcription.
Transcription is the provess of transferring sequence information from DNA to RNA
65
How is transcription initiated?
Transcription starts by binding transcription factors to promoter regions
66
What are promotors?
Regulatory region of a gene where transcriptional factors bind to activate gene transcription
67
What is the regulatory region of a gene where transcription factors bind to activate gene transcription?
Promoter region
68
What are transcription factors?
Series of protein cofactors that bind to promotors and RNA polymerase II and start transcription from DNA to mRNA
69
What is the difference between an exon and intron?
An exon is the coding region of a gene that contributes to AA sequence while an intron is the no coding sequence between exams of a gene
70
What is the expressed sequence of a gene
Exon
71
What is the intervening sequence of a gene?
Intron
72
The 5’ end of RNA is modified with what!
A protective cap
73
What does the cap do aside replacing the 5’ end of RNA?
Initiates recognition and protein synthesis later on
74
The 3’ end of RNA is modified by addition of what?
Multiple adenine bases. Poly (A) tail
75
What is the necessity of the poly (A) tail I’m mRNA transcripts?
Translation and protecting mRNA from degradation
76
What us RNA slicing?
This is the process of converting a newly transcribed RNA (pre mRNA) into a mature mRNA
77
In what process are intron sequences sequences removed and exon sequences connected together?
RNA splicing
78
What does a mature RNA consist of?
5’ cap 3’ poly (A) tail Spliced sequence
79
What is translation?
It is the process in which mRNA sequences direct the amino acid sequences to synthesize proteins
80
Where does translation take place?
On ribosomes (rRNA) using tRNA to match mRNA
81
A codon is a how many nucleotide sequence?
3 nucleotide sequence a
82
Each amino acids have how many codons!
At least one
83
What is the initial codon where protein synthesis begins?
AUG
84
Identify the stop codons
UGA UAG UAA
85
Specific amino acids are delivered to mRNA by
tRNA
86
What are genetic events related to?
Changes in actual DNA sequences
87
Identify some genetic events
Gene mutation Translocation Deletions etc
88
Epigenetic events are related to what?
Processes that don’t alter DNA sequences but still have effects in gene function
89
What is the difference between genetic and epigenetic events?
In genetic events, there’s actual change in DNA sequence but in epigenetic events, processes alter gene function without a,tearing DNA sequence
90
List some epigenetic events
DNA methylation Histone modification ncRNA regulation (non-coding RNA) Chromatin remodeling
91
These events affect the access to genetic code without affecting genetic code itself
Epigenetic events
92
What is DNA methylation?
A biological process by which methyl groups are added to a DNA molecule by binding it to cytosine
93
How does DNA methylation inhibit transcription?
Methylated cytosine prevents binding of RNA polymerase II to get access to DNA sequence

Clinical Chem I (17 decks)

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