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Terms Flashcards

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1
Q

How do nucleic acids grow?

A

By attachment of the 5’ phosphate group of the incoming nucleotide to the 3’ hydroxyl group of the last nucleotide

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2
Q

Double stranded DNA is

A

The most energetically favorable stage of DNA

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3
Q

Purines

A

The double-ring structure of Adenine and Guanine (A&G)

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4
Q

Pyrimidine

A

Single-ring structure of Thymine, Uracil, and Cytosine (T&U&C)

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5
Q

MRNA

A

Messenger RNA
Template for all protein synthesis
Encodes all information needed to produce proteins

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6
Q

Ribosomal RNA

A

Non-coding RNaa
Components of the ribosomes, the protein synthetic factories in the cell
Eukaryotes ribosomes contain 2 subunits (60 & 40 s)

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7
Q

Small nuclear RNa

A

Function in eukaryotic splicing

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8
Q

MicroRNA

A

Single-stranded RNA involved in transcriptional regular

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9
Q

Sanger sequencing

A

Chain termination method
Is 1st gen sequencing method
Mostly 16S ribosomal RNA, drug resistance, and genotyping

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10
Q

Next Gen Sequencing

A

Newer
Broadly used
Surveillance testing and some clinical diagnostic testing

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11
Q

Whole Genome Seq

A

Entire genome is sequenced instead of small region of interest

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12
Q

Pcr(Polymerase Chain Reqction)

A

Amplification of DNA(billions of copies)
Requires- specific primers, deoxyribose nucleotide triphosphates and heat stable DNA polymerase
Denatured Annealing Extension

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13
Q

Conventional PcR(end point)

A

Amplified products are detected at completion of thermal cycling
Typically through gel electrophoresis
Often as band and base pairs can be sized with a ladder

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14
Q

Quantitative Pcr

A

Measure quantity of target sequence( count of copy number, viral load)

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15
Q

Reverse Transcription Pcr

A

Starts with RNA that is transcribed to DNA(cDNA) and then amplified in PCR

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16
Q

Real time PCr

A

Combines amplification and detection in one step
Two types singplex- one gene target in one reaction
Multiplex- Multiple targets in single reaction
Can be single or multiple organisms targets
Requires fewer reagents
Less sensitive and more finicky the singleplex

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17
Q

Quality control

A

Testing known Sivan’s along with patient samples through analytical process to ensure results are accurate and precise

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18
Q

Quality assurance

A

Systematic approach to ensure products and services are high quality, defensible, and accurate
- monitoring supplies
-equipment validation/calibration
-personal training g
-proficiency testing

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19
Q

DNA ligase

A

Joins dna fragments formed by discontinuous synthesis dna replication or dna repair pathways

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20
Q

Nucleases

A

Digest nucleic acid by breaking phosphate bonds
- can be ss or ds dna/rna
Ex. Endonucleases digest acids from middle of molecule
Excesses digest acids at a free end either 3 or 5

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21
Q

Helicases

A

Use chemical energy to break nucleoside triphosphates
Ie Break hydrogen bonds between bases and unwind double helix into single strands (mostly ATP)

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22
Q

Topoisomerases

A

Enzymes with nuclease(digest) and ligase(join fragments) properties that change supercooling in dna

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23
Q

Polymerases

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A

Join DNA or arms nucleotides together to form ss daugther using ss parent molecule as template
Ie makes new dna or rna
Typically proceeds in 5 to 3 direction

24
Q

Reverse transcriptase

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A

Mostly viral origin
Catalyzes dna synthesis from DNA or RNA template

25
What degrades DNA?
Exonucleases
26
Central Dogma
Replication>Transcription>Translation Ex DNA>RNA>Ribosomes
27
Autonomies
22 pair per cell Non sex linked genetic heredity info
28
Sex chromosome
1 pair per cell Genetic traits linked to persons sex
29
GC box
Distinct patter. Of nucleotides found in promoter region ahead of TATA box ~110 bases in front of transcription initiation site
30
Tata box
Cis regulatory element found in promoter region- part of core promoter region
31
Caat box
Nucleotide consensus sequence occurs 75-80 bases in front of initial transcription site
32
Cis regulatory elements CREs
Non coding regions of dna that regulate the transcription of nearby genes
33
Trans acting element
DNA sequence that contains a gene coding for protein that is used in the regulation of another target gene (micro rna or similar molecule)
34
ATG
Transcription start site
35
Intro
Non coding sequence that is removed from mature mRNA prior to translation
36
Econ
Coding sequence of dna present in mature mRNA
37
3 statues of dna replication
1. Initiation- repose(replication complex) form helicase unwinds dna, dna polymearase binds origin of replication and form replication form 2. Elongation-two strands, leading strand continuously synthesized 5-3 by dna poly and the lagging strand which is formed 3-5 in short Okazaki fragments and joined together by liagse (more prone to errors) 2. Termination- replication machinery dissociates
38
RNA transcription
Process of copying one strand of dna sequence info into mRNA
39
Poly a tail
Necessary for stablility and transportation to the cytoplasm Is added to the 3 end
40
Translation
Process of converting mRNA to protein
41
Codon
3 nucleotide sequence that is specified to one amino acid 64 codons possibel
42
3 stop codons
Uaa, uag, uga
43
DNA repair types
Direct -single step reaction Mismatch-checks for error in replication daughter strand is removed and replaced with correct match Base excision-small non helix deforming adducts repairs Nucleotide excision- removes bulky dna adducts( ex.thymine diners) Double strand break repair- repairs cause by ionizing radiation and the like
44
What restores the correct sequence and integrity of the daughter strand during mismatch repair
DNA polymerase 3 and ligase
45
What type of mutation is sickle cell anemia
Point mutation
46
What type of mutation is Becker muscular dystrophy
An example of deletion/insertion
47
What type of mutation is duchenne muscular dystrophy
It is an example of deletion/insertion with a frame shift
48
What type of mutation is duchenne muscular dystrophy
It is an example of deletion/insertion with a frame shift
49
What mutation is Fragile X syndrome?
Amplification/trinucleotide repeat
50
What is chronic myelogenous leukemia and example of
Translocation
51
What are the three types of point mutation?
Silent- Nonsense- Missense-
52
What are the 3 types of reciprocal translocation
Balanced Unbalanced Robertsonian- movement of one entire chromosome to centromere of another chromosome
53
What are the two types of inversions
Paracentric-involves sequences within 1 arm of chromosome Pericentric-includes centrome of inverted region
54
Autosomal Recessive
Specific phenotype can only be expressed when two mutated copies of the gene are present 25% of offspring from heterozygous parents -examples include cystic fibrosis and hereditary hemochromatosis
55
X-Linked diseases
Mutant allele resides on X chromosome Females are carriers but males are affected No male to male transmission -1/3 are novel mutations and mother isn’t affected mutation Two types ie recessive or dominant X-recessive-primarily males affected All females obligate carriers —ex red-green color blindness and quality-Aldrich syndrome X linked dominant only one copy All affected individuals have affected parent Exs duchenne/becker muscular dystrophy, fragile X syndrome
56
Assay verification
Needs precision/reproducability Accuracy and reference values
57
Assay validation
Is done on a in house test procedure Needs precision/reporducability, accuracy, reference values, a reportable range, sensitivity and specificity Needed if ANY modification is made to an FDA-approved assay

Molecular diagnostic (1 decks)

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