MBD MLAP REVIEW Flashcards

1
Q

true or false. molecular tests have replaced conventional tests.

A

true

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2
Q

product of laboratory medicine + genomic knowledge + technology

A

molecular biology and diagnostics

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3
Q

genetic information is contained in ___ _____ which are arranged as _____ and are packaged as _____.

A

dna sequences; genes; chromosomes

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4
Q

how many base pairs does the human genome have

A

3 billion base pairs

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5
Q

complete set of genetic information

A

genome

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6
Q

transfer of genetic information within the cell

A

central dogma

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7
Q

concept of central dogma

A

dna template is used to create rna to proteins

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8
Q

transcription process

A

1 dna strand > mrna

enzyme: rna polymerase

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9
Q

translation process

A

mrna > proteins

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10
Q

responsible for cellular functions

A

proteins

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11
Q

2 types of nucleic acids

A

dna and rna

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12
Q

building blocks of nucleic acids

A

nucleotides

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13
Q

3 components of nucleotides

A
  1. nitrogenous bases
  2. 5 carbon sugars
  3. phosphate groups
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14
Q

nucleotides are joined by:

A

3’-5’ phosphodiester bond

1st: 5’ to phosphate
2nd: phosphate to 3’

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15
Q

purines are:

A

double ring

ex: adenine and guanine

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16
Q

pyrimidines are:

A

single ring

ex: cytosine, thymine (dna), and uracil (rna)

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17
Q

carbons of nucleic acids:

A

dna: deoxyribose sugar
2’ - hydrogen atom

rna: ribose sugar
2’ - hydroxyl group

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18
Q

carbons of nucleic acids:

A

rna: ribose sugar

2’ - hydroxyl group

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19
Q

responsible for the very strong negative charge of the nucleic acid

A

phosphate group

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20
Q

base pairing

A

adenine and thymine (dna) / uracil (rna)

guanine and cytosine

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21
Q

true or false. in a double stranded dna, the concentration of purines and pyrimidines are the same.

A

true

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22
Q

hydrogen bonds present per base pair

A

c + g = 3 hydrogen bonds

a + t = 2 hydrogen bonds

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23
Q

watson and crick on 1953

A

double-stranded helix with major and minor grooves

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24
Q

continuous replication direction (leading strand)

A

5’ to 3’

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25
which enzyme fixes the gaps in the lagging strand?
ligase
26
which enzyme opens up the dna?
helicase
27
which enzyme prevents the supercoiling of dna?
topoisomerase
28
which enzyme adds new nucleotides to the template strands?
dna polymerase
29
true or false. rna is environmentally labile and easily degraded.
true
30
3 types of rna in transcription
rrna, mrna, trna
31
this rna is found in the ribosomes and they translate mrna into proteins
ribosomal rna
32
which rna is the most abundant in the cell?
rrna (80-90%)
33
which rna is read by the ribosomes to produce proteins?
messenger rna
34
what do you call the mrna in eukaryotes that has its introns and exons still intact?
heteronuclear rna / pre-mrna
35
which part of the mrna contains the coding sequence?
exons
36
what are added to complete the maturity of mrna?
5' methylguanine cap and polyadenylate tail
37
this type of rna reads the mrna and brings the amino acid into the ribosome
transfer rna
38
which rna removes the introns?
small nuclear rna
39
rnas that are involved in different cell processes
small and micro rnas
40
dna to chromosome sequence:
dna + histones = nucleosomes > chromatin > chromosomes
41
humans have how many chromosomes?
23 pairs (46) chromosomes, diploid
42
chromosome breakdown:
1-22 pairs of somatic chromosomes xx - females xy - males
43
noncoding regions but have regulatory elements
introns (intervening sequences)
44
multiple allelic forms
polymorphism
45
different form of a gene
allele
46
physical location of a gene
loci/locus
47
in which side do you inherit the mitochondrial dna
maternal side
48
mitochondrial dna (mtdna) characteristics
circular genome w/ 16,600 base pairs
49
total genes in a mtdna
37 genes: 22 trna 2 rrna 13 oxidation-phosphorylation genes
50
what regions of mitochondria are sought in forensics?
hypervariable regions I (342bp) and II (268bp)
51
true or false. prokaryotic chromosomes are circular and 95% of it are non-coding regions.
false. yes, prokaryotic chromosomes are circular but 95% of it is coding regions.
52
extrachromosomal dna (ecdna) of prokaryotes
plasmids
53
true or false. plasmids cannot replicate independently.
false. plasmids can replicate independently.
54
true or false. extrachromosomal (ecdna) contains essential genetic information.
false. extrachromosomal dna contains nonessential genetic information.
55
what gene is found in the plasmids that help for the survivability of prokaryotes?
antibiotic resistant genes
56
process of disrupting the double stranded dna
denaturation
57
product of denaturation
melted dna/single stranded
58
2 methods in denaturation
heating or chemical
59
at what temp does human dna denatures?
94 C
60
2 requirements for renaturation
salt and temperature
61
at what temp does human dna anneals?
52 C
62
what enzyme cleaves phosphodiester bonds?
nucleases
63
3 types of nucleases
- deoxyribonucleases - ribonucleases - exonucleases
64
dnase acts on?
ssdna and dsdna
65
true or false. rnases are ubiquitous and have high concentration in the hands
true
66
rnase temperature range:
-20 to > 100 C
67
nucleases that can only cut one nucleotide at a time
exonucleases
68
a type of enzyme that can recognize a specific base sequence and cut it
restriction enzymes/endonucleases
69
cuts of restriction enzyme cuts
3' OH and 5'P terminus
70
term for non-specific cleaving
star activity
71
what causes star activity?
incubation temp is not optimal
72
example of restriction enzyme that cuts at predictable sites and is used at recombination
type II restriction enzyme
73
nucleic acids that have bilateral symmetry
palindromes
74
these are used for diagnosing hereditary disease and forensics
restriction fragment length polymorphisms (rflp)
75
in what stain can you view rflp?
ethidium bromide and sybr green (fluorescent stains in electrophoresis)