UNIT 6 Flashcards
(101 cards)
1
Q
A single gene locus
causing mutation has a
major physiologic impact
and considered to be
deterministic of a disease
A
Mutation
2
Q
Genetic alteration that contributes to
complex disease has smaller effect
A
Polymorphism
3
Q
Present in at least 1% of the
population
A
Poly
4
Q
Present in at least 1% of the
population
A
polymorphism
5
Q
not causally linked to
diseases but alleles are seen more
frequently among diseased
individuals
A
Poly
6
Q
causally
linked to Mendelian
diseases
A
Mutations
7
Q
One-on-one correlation of
mutation and disease can
be established
A
Mutations
8
Q
No one-on-one correlation
A
Poly
9
Q
Single base pair change in
nucleotide sequence of
genes are called
A
Point mutations
10
Q
Single base pair change in nucleotide
sequence of genes are called
A
SNP
11
Q
are alternative forms of nucleotide that
are brought about by the rearrangement of atoms
A
Tautomers
12
Q
Repositioning of hydrogen atoms in the pyrimidine
bases turns aminophore
A
Iminophore
13
Q
most common form of guanine & thymine
A
Ketophore
14
Q
Ketophores becomes ____ when there is rearrangement
A
Enolphore
15
Q
Cytosine mispairs with adenine resulting in a
A
Transition mutation
16
Q
can cause the formation of uracil and
hypoxanthine by cytosine and adenine
A
Deamination
Nawala si NH2
17
Q
Deaminated cytosine =
A
Uracil
18
Q
Deaminated adenine=
A
Hypoxanthine
19
Q
happens in guanine when exposed to
dimethyl sulfate =
A
Alkylation
7- methylguanine
20
Q
target deoxyribose ring =
phosphodiester backbone breaks
are free radicals.
A
Oxygen radicals
21
Q
bonding of two thymines in the same
strand
○ Caused by sunlight
○ Sunscreen protects us from UV rays.
A
Thymine dimer
22
Q
kulang polypeptide chain because of
premature termination or translation.
A
Nonsense
23
Q
always deleterious because of the
change in amino acids.
A
Missense
24
Q
nasplice din si isang exon
○ There’s an exon missing.
A
Exon skipping
25
hindi siya nasplice sa mRNA
Intron inclusion
26
kulang si exon
○ Part of exon was spliced.
○ All introns removed.
Cryptic splice site
27
SSCP
ASO
MELT CURVE
ARRAY
Hybridization based
28
Sequence specific PCR,
Allelic
Sequencing Polymerization based
29
RFLP
Nuclease cleavage
Invader
Cleavage-based
30
Scans several-hundred base pairs.
● Based on intra-strand folding.
SSCP
31
Folded single strands (conformers) can be resolved by
size and shape.
SSCP
32
Detect PAGE bonds by silver staining
SSCP
33
Analyze results by comparison to reference normal
control (+)
SSCP
34
1. Amplify region to be scanned using PCR
2. Denature and dilute the PCR products
3. Separate conformers by PAGE or CGE
SSCP
35
Dot blot method
ASO
36
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.
ASO
37
Based on sequence effect on Tm.
● Can be performed with or without probes.
● Requires double-strand DNA–specific dyes.
MELT CURVE
38
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.
Melt curve
39
Reverse Dot blot
Array
40
Used to investigate multiple genomic sites
simultaneously
Array
41
Unlabeled probes are bound to substrate.
● Specimen DNA is labeled and hybridized to
immobilized probes.
Array
42
Interrogate thousands of genes simultaneously.
● Requires a new array for each sample.
● Unlabeled probes are synthesized on the substrate.
High density oligo array
43
requires that the 3′ base of the
primer is complementary to the template.
SSP PCR
44
detect mutations in DNA.
● Generation of PCR product indicates the presence of mutation or polymorphism in the template.
SSP PCR
45
simple method for detecting any mutation
involving single base changes or small deletions
ARMS
46
use of sequence-specific PCR
primers that allow amplification of test DNA only when
the target allele is contained within the sample
ARMS
47
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)
ARMS
48
Uses fluorescently labeled probes.
Allelic
49
Uses fluorescently labeled probes.
Allelic
50
Similar to Taqman technology.
Allelic
51
Generates “color” signal for mutant or normal
sequence.
● Performed on real-time PCR instruments.
● Probe complementary to normal sequence labeled
with FAM fluorescent dye
Allelic
52
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
DGGE
53
Restriction enzyme site recognition detects presence
of sequence changes.
RFLP
54
in vitro synthesized protein assay
(IVSP)
PTT
55
method that detects mutations arising from
termination of mRNA translation process
PTT
56
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
PTT
57
advantage of PTT method is that it can detect
mutations of large kilobases
PTT
58
cannot detect polymorphisms, silent
mutations and missense mutations
PTT
59
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.
HETERODUPLEX
60
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
Invader
61
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
Multiplex MLPA
62
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
MLPA
63
analysis of genes at the
nucleotide level
DNA SEQUENCING
64
to determine the
sequence of small regions of interest
DNA SEQUENCING
65
represents the most widely used
technique for sequencing DNA
SANGER SEQUENCING
66
massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has
revolutionized genomic research
NGS
67
Using NGS an entire human genome can be
sequenced within a single day.
TRUE
68
Sanger sequencing technology, used to
decipher the human genome, required over a decade
to deliver the final draft
TRUE
69
measure genome-wide messages or any
specific set of targets in individual cells (genome or
exome
SCS
70
uniquely powerful because of its
high-sensitivity, high-resolution, and
comprehensive analysis of heterogeneous, rare and
thus valuable, biopsies
SCS
71
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
SCS
72
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
Achondroplasia
73
only gene
known to be associated
with achondroplasia
FGFR3
74
All people who have only a
single copy of the normal
FGFR3 gene and a single
copy of the FGFR3 gene
mutation have
achondroplasia.
TRUE
75
inherited condition that causes low levels of, or no,
alpha-1 antitrypsin(AAT) in the blood
AAT DEFICIENCY
76
autosomal co-dominantly inherited disease that
predominantly affects the lungs and liver
AAT
77
individuals with AATD have one normal copy and one
damaged copy or two damaged copies
AAT
78
chromosome 16, is associated
in approximately 85% of
individuals who have PKD
AUTOSOMAL DOMINANT PKD1
79
which is on
chromosome 4, is associated
in about 15% of patients
PKD2
80
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
CF
81
a congenital anomaly
of the sixth cranial
nerve nuclei with
aberrant innervation
supplied from the third
cranial nerve
Duane’s retraction = CHN1
82
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
DMD
83
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
Dystrophin
84
Cause hemophilia A
A=FVIII
85
Cause hemophilia B
FIX
86
Being an X-linked recessive disorder, females are
generally not affected, although they can be carriers
of this disorder
Hemophilia
87
an autosomal dominant
genetic neurodegenerative disorder that can affect
motor, cognitive, and psychiatric functioning
HD
88
an inherited single-gene dominant disorder caused by the abnormal expansion of CAG repeats in the HTT gene
HD
89
autosomal dominant
condition occurring once in
every 10,000 to 20,000
individuals
MARFAN
90
Marfan is caused by mutations in the
gene, which is a large
gene with 65 exons
FBN1 gene
91
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
FBN1
92
autosomal recessive disease caused by a
mutation in the hemoglobin-β gene found on
chromosome 11
Sickle cell
93
fatal autosomal recessive genetic disorder, most
commonly occurring in children
Tay sachs
94
caused by mutations in the HEXA
(hexosaminidase-A) gene localized on chromosome
15
Tay sachs
95
most common inherited neuromuscular disorder
with an incidence of 1 in every 2500 individuals
worldwide
Charcot Marie tooth disease
96
demyelinating type
CMT1
97
Axonal type
CMT2
98
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
Cru du chat
99
most common hereditary optic neuropathy that
severely impairs vision
Doa
100
loss of retinal ganglion cells located only
in the inner retina and projecting their axons via the
optic nerve to the brain
Doa
101
OPA1 and OPA3—and three
loci—OPA4, OPA5, OPA8—are known for
DOA
