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MOLBIO LEC > UNIT 6 > Flashcards

UNIT 6 Flashcards

1
Q

A single gene locus
causing mutation has a
major physiologic impact
and considered to be
deterministic of a disease

A

Mutation

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2
Q

Genetic alteration that contributes to
complex disease has smaller effect

A

Polymorphism

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3
Q

Present in at least 1% of the
population

A

Poly

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4
Q

Present in at least 1% of the
population

A

polymorphism

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5
Q

not causally linked to
diseases but alleles are seen more
frequently among diseased
individuals

A

Poly

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6
Q

causally
linked to Mendelian
diseases

A

Mutations

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7
Q

One-on-one correlation of
mutation and disease can
be established

A

Mutations

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8
Q

No one-on-one correlation

A

Poly

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9
Q

Single base pair change in
nucleotide sequence of
genes are called

A

Point mutations

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10
Q

Single base pair change in nucleotide
sequence of genes are called

A

SNP

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11
Q

are alternative forms of nucleotide that
are brought about by the rearrangement of atoms

A

Tautomers

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12
Q

Repositioning of hydrogen atoms in the pyrimidine
bases turns aminophore

A

Iminophore

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13
Q

most common form of guanine & thymine

A

Ketophore

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14
Q

Ketophores becomes ____ when there is rearrangement

A

Enolphore

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15
Q

Cytosine mispairs with adenine resulting in a

A

Transition mutation

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16
Q

can cause the formation of uracil and
hypoxanthine by cytosine and adenine

A

Deamination

Nawala si NH2

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17
Q

Deaminated cytosine =

A

Uracil

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18
Q

Deaminated adenine=

A

Hypoxanthine

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19
Q

happens in guanine when exposed to
dimethyl sulfate =

A

Alkylation
7- methylguanine

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20
Q

target deoxyribose ring =
phosphodiester backbone breaks

are free radicals.

A

Oxygen radicals

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21
Q

bonding of two thymines in the same
strand
○ Caused by sunlight
○ Sunscreen protects us from UV rays.

A

Thymine dimer

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22
Q

kulang polypeptide chain because of
premature termination or translation.

A

Nonsense

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23
Q

always deleterious because of the
change in amino acids.

A

Missense

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24
Q

nasplice din si isang exon
○ There’s an exon missing.

A

Exon skipping

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25
Q

hindi siya nasplice sa mRNA

A

Intron inclusion

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26
Q

kulang si exon
○ Part of exon was spliced.
○ All introns removed.

A

Cryptic splice site

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27
Q

SSCP
ASO
MELT CURVE
ARRAY

A

Hybridization based

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28
Q

Sequence specific PCR,
Allelic

A

Sequencing Polymerization based

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29
Q

RFLP
Nuclease cleavage
Invader

A

Cleavage-based

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30
Q

Scans several-hundred base pairs.
● Based on intra-strand folding.

A

SSCP

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31
Q

Folded single strands (conformers) can be resolved by
size and shape.

A

SSCP

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32
Q

Detect PAGE bonds by silver staining

A

SSCP

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33
Q

Analyze results by comparison to reference normal
control (+)

A

SSCP

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34
Q
  1. Amplify region to be scanned using PCR
  2. Denature and dilute the PCR products
  3. Separate conformers by PAGE or CGE
A

SSCP

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35
Q

Dot blot method

A

ASO

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36
Q

Relies on binding effects of nucleotide mismatches.
● Specimen in solution is spotted on nitrocellulose.
● Labeled oligonucleotide probes are hybridized to
immobilized specimens.
● Three specimens spotted on duplicate membranes.

A

ASO

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37
Q

Based on sequence effect on Tm.
● Can be performed with or without probes.
● Requires double-strand DNA–specific dyes.

A

MELT CURVE

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38
Q

Also performed with fluorescence resonance energy
transfer(FRET) probes.
● Double-stranded DNA specific dye(SyBr Green) will
fluoresce when bound to DNA.
● Denaturation of DNA to single strands will result in
loss of fluorescence.

A

Melt curve

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39
Q

Reverse Dot blot

A

Array

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40
Q

Used to investigate multiple genomic sites
simultaneously

A

Array

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41
Q

Unlabeled probes are bound to substrate.
● Specimen DNA is labeled and hybridized to
immobilized probes.

A

Array

42
Q

Interrogate thousands of genes simultaneously.
● Requires a new array for each sample.
● Unlabeled probes are synthesized on the substrate.

A

High density oligo array

43
Q

requires that the 3′ base of the
primer is complementary to the template.

A

SSP PCR

44
Q

detect mutations in DNA.
● Generation of PCR product indicates the presence of mutation or polymorphism in the template.

A

SSP PCR

45
Q

simple method for detecting any mutation
involving single base changes or small deletions

A

ARMS

46
Q

use of sequence-specific PCR
primers that allow amplification of test DNA only when
the target allele is contained within the sample

A

ARMS

47
Q

simple and economical method to genotype single-
nucleotide polymorphisms(SNPs)
● It uses four primers in a single PCR and is followed by gel electrophoresis(Tetra ARMS-PCR)

A

ARMS

48
Q

Uses fluorescently labeled probes.

A

Allelic

49
Q

Uses fluorescently labeled probes.

A

Allelic

50
Q

Similar to Taqman technology.

A

Allelic

51
Q

Generates “color” signal for mutant or normal
sequence.
● Performed on real-time PCR instruments.
● Probe complementary to normal sequence labeled

with FAM fluorescent dye

A

Allelic

52
Q

has been used for screening of unknown point
mutations
● It is based on differences in the melting behavior of small DNA fragments(200-700 bp); even a single
base substitution can cause such a difference
● DNA is first extracted and subjected to denaturing
gradient gel electrophoresis

A

DGGE

53
Q

Restriction enzyme site recognition detects presence
of sequence changes.

A

RFLP

54
Q

in vitro synthesized protein assay
(IVSP)

A

PTT

55
Q

method that detects mutations arising from
termination of mRNA translation process

A

PTT

56
Q

As a result of this, the protein product is truncated.
The truncated protein could have arised due to a
frameshift mutation, non-sense mutation and splice
site mutation

A

PTT

57
Q

advantage of PTT method is that it can detect
mutations of large kilobases

A

PTT

58
Q

cannot detect polymorphisms, silent
mutations and missense mutations

A

PTT

59
Q

Uses nucleases that cut single–stranded bubbles in
heteroduplexes.
● Region of interest is amplified by PCR.
● PCR product is denatured and renatured with or
without added normal PCR product.
● Renatured duplexes are digested with nuclease; e.g.,
S1 nuclease
● Products are observed by gel electrophoresis.

A

HETERODUPLEX

60
Q

Mutation detection with proprietary Cleavase®
enzyme.
● Sample is mixed with probes and enzyme.
● Enzyme cleavage of probe-test sample hybrid will
yield fluorescent signal.
● Signal will only occur if probe and test sample
sequence are complementary.
● Probes and enzyme are provided.
● 96-well plate format

A

Invader

61
Q

screen deletions and
duplications of up to 50 different genomic DNA or
RNA sequences
● In this technique, briefly, the probe set is hybridized to
genomic DNA in solution

A

Multiplex MLPA

62
Q

Each probe consists of two halves; one half is
composed of a target specific sequence and a
universal primer sequence, and other half has other
more sequences, a variable length random fragment

A

MLPA

63
Q

analysis of genes at the
nucleotide level

A

DNA SEQUENCING

64
Q

to determine the
sequence of small regions of interest

A

DNA SEQUENCING

65
Q

represents the most widely used
technique for sequencing DNA

A

SANGER SEQUENCING

66
Q

massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has
revolutionized genomic research

A

NGS

67
Q

Using NGS an entire human genome can be
sequenced within a single day.

A

TRUE

68
Q

Sanger sequencing technology, used to
decipher the human genome, required over a decade
to deliver the final draft

A

TRUE

69
Q

measure genome-wide messages or any
specific set of targets in individual cells (genome or
exome

A

SCS

70
Q

uniquely powerful because of its
high-sensitivity, high-resolution, and
comprehensive analysis of heterogeneous, rare and
thus valuable, biopsies

A

SCS

71
Q

This method has revealed previously unknown
molecular characteristics of cancer cells, neurons,
immune cells, stem cells, and diseased cells, that is,
cells associated with gene-related disease, and is a
promising tool for the development of increasingly
precise and personalized medicine

A

SCS

72
Q

unique
amino acid substitution of
G380R as the result of G
to A transition(97%) and G
to C transition(3%) at
cDNA position 1138

A

Achondroplasia

73
Q

only gene
known to be associated
with achondroplasia

A

FGFR3

74
Q

All people who have only a
single copy of the normal
FGFR3 gene and a single
copy of the FGFR3 gene
mutation have
achondroplasia.

A

TRUE

75
Q

inherited condition that causes low levels of, or no,
alpha-1 antitrypsin(AAT) in the blood

A

AAT DEFICIENCY

76
Q

autosomal co-dominantly inherited disease that
predominantly affects the lungs and liver

A

AAT

77
Q

individuals with AATD have one normal copy and one
damaged copy or two damaged copies

A

AAT

78
Q

chromosome 16, is associated
in approximately 85% of
individuals who have PKD

A

AUTOSOMAL DOMINANT PKD1

79
Q

which is on
chromosome 4, is associated
in about 15% of patients

A

PKD2

80
Q

caused by mutations in the cystic fibrosis
transmembrane conductance regulator(CFTR) gene,
whose protein product is involved in the transport of
chloride ions across the apical membrane of
epithelial and blood cells

A

CF

81
Q

a congenital anomaly
of the sixth cranial
nerve nuclei with
aberrant innervation
supplied from the third
cranial nerve

A

Duane’s retraction = CHN1

82
Q

X-linked recessive disorder that occurs in boys
with an incidence rate of 1 in 3500, and it is caused by
an alteration in dystrophin gene, called the DMD gene

A

DMD

83
Q

largest gene in human genome,
spanning 2.4Mb and containing 79 exons
● well-known types of DMD-causing mutations include
large mutations (deletions larger that 1 exon), large
duplications (larger than 1 exon), small mutations
(deletions less than 1 exon),
small insertions ( less than 1
exon), splice site mutations
(less than 10bp from exon),
point mutations (nonsense,
missense), and midintronic
mutations

A

Dystrophin

84
Q

Cause hemophilia A

A

A=FVIII

85
Q

Cause hemophilia B

A

FIX

86
Q

Being an X-linked recessive disorder, females are
generally not affected, although they can be carriers
of this disorder

A

Hemophilia

87
Q

an autosomal dominant
genetic neurodegenerative disorder that can affect
motor, cognitive, and psychiatric functioning

A

HD

88
Q

an inherited single-gene dominant disorder caused by the abnormal expansion of CAG repeats in the HTT gene

A

HD

89
Q

autosomal dominant
condition occurring once in
every 10,000 to 20,000
individuals

A

MARFAN

90
Q

Marfan is caused by mutations in the
gene, which is a large
gene with 65 exons

A

FBN1 gene

91
Q

mutations are associated
with a broad continuum of
physical features, ranging
from isolated features of
Marfan syndrome to a severe
and rapidly progressive form
in newborns

A

FBN1

92
Q

autosomal recessive disease caused by a
mutation in the hemoglobin-β gene found on
chromosome 11

A

Sickle cell

93
Q

fatal autosomal recessive genetic disorder, most
commonly occurring in children

A

Tay sachs

94
Q

caused by mutations in the HEXA
(hexosaminidase-A) gene localized on chromosome
15

A

Tay sachs

95
Q

most common inherited neuromuscular disorder
with an incidence of 1 in every 2500 individuals
worldwide

A

Charcot Marie tooth disease

96
Q

demyelinating type

A

CMT1

97
Q

Axonal type

A

CMT2

98
Q

5p-syndrome and cat cry syndrome
● caused by the deletion of genetic material on the
small arm (the p arm) of chromosome 5, and is
among the most common deletion syndromes

A

Cru du chat

99
Q

most common hereditary optic neuropathy that
severely impairs vision

A

Doa

100
Q

loss of retinal ganglion cells located only
in the inner retina and projecting their axons via the
optic nerve to the brain

A

Doa

101
Q

OPA1 and OPA3—and three
loci—OPA4, OPA5, OPA8—are known for

A

DOA

MOLBIO LEC (2 decks)

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