MUTATION DETECTION

Question 1

CTGGAG
CTGGGG
A arrow to 4th G
what mutation is this?

Answer 1

Point mutation (base substitution)

Question 2

DETECTION OF THE KNOWN
give me the 4

Answer 2

1. Allele-Specific Oligonucleotide Hybridization
2. DNA Microarray
3. DNA Sequencing
4. Multiplex Ligation-Dependent Probe Amplification (MLPA)

Question 3

ALLELE-SPECIFIC OLIGONUCLEOTIDE
HYBRIDIZATION also called

Answer 3

“DOT-BLOT” Method

Question 4

Alternative form of a gene due to
mutations in the same place on a chromosome or
DNA sequence

Answer 4

ALlele

Question 5

Relies on specific binding of known chromogenic
probes on DNA and detection of probes thereafter

Answer 5

ALLELE-SPECIFIC OLIGONUCLEOTIDE
HYBRIDIZATION

Question 6

The healthy cell is probed with green fluorescence and the pathologic one is probed with red. And then, you mixed them together on a tube and placed it on each of those dots. And in each of those dots, they have specific genes that they detect or probe for.

Answer 6

DNA MICROARRAY

Question 7

We need to know the sequence that we want to look for so that we can make a primer for it.

Answer 7

DNA SEQUENCING

Question 8

5’ - TCGTGTCGATAGCGCT - 3’

Answer 8

The type of sequencing above is Maxam-Gilbert

tama ang question? :(

Question 9

automated sequencing

Answer 9

electropherogram

Question 10

Multiplex PCR makes use of _____

Answer 10

multiple primer

Question 11

MLPA will only detect ______________________

Answer 11

insertions and deletions (base indels)

Question 12

MLPA cannot detect

Answer 12

single base changes

Question 13

Under MLPA
When amplified, a ratio of 1:1 will be the result if ____________

Answer 13

there are no mutations detected = NORMAL

Question 14

DETECTION OF THE UNKNOWN
give me the 6

Answer 14

1. Single-Strand Conformation Polymorphism
2. Denaturing Gradient Gel Electrophoresis
3. Temperature Gradient Gel Electrophoresis
4. Restriction Fragment Length Polymorphism
5. Heteroduplex Analysis
6. Single Strand Specific Nucleases

Question 15

takes advantage of the secondary structures that form for single-stranded DNA in non-denaturing
conditions

Answer 15

SINGLE-STRAND CONFORMATION
POLYMORPHISM

Question 16

SINGLE-STRAND CONFORMATION
POLYMORPHISM

Different folding pattern = Different _______

Answer 16

migration pattern

Question 17

SINGLE-STRAND CONFORMATION
POLYMORPHISM
Fragment size limit: ___

Answer 17

150-200 bp (highly limited)

Question 18

SINGLE-STRAND CONFORMATION
POLYMORPHISM
Detects ___%

Answer 18

80-90% of unknown mutations

Question 19

Modification of gel electrophoresis that uses different intensities of a denaturing environment in the same set-up

Answer 19

DENATURING GRADIENT GEL
ELECTROPHORESIS

Question 20

WHAT ARE EXAMPLES OF DENATURING CHEMICALS?

Answer 20

○ Formamide
○ Urea

Question 21

DENATURING GRADIENT GEL
ELECTROPHORESIS

Fragments melt in a ___ manner based on its melting profile

Answer 21

stepwise

Question 22

DNA MELTING PROFILE
__ = weaker bonds, hence, they melt first

Answer 22

AT bond

Question 23

DNA MELTING PROFILE
__ = last to melt due to their strong bond

Answer 23

GC bond

Question 24

DNA MELTING PROFILE
Lowest denaturing concentration =
______

Answer 24

UPPERMOST PART OF THE GEL
○ They have lesser GC and more AT

Question 25

DNA MELTING PROFILE
Highest denaturing concentration =
_____

Answer 25

LOWERMOST PART OF THE GEL
○ They have more GC, thus, they denature earlier.

Question 26

Modification of DGGE that uses temperature instead of a denaturing chemical.

Answer 26

TEMPERATURE GRADIENT GEL
ELECTROPHORESIS

Question 27

T or F
chemical gradient is more reproducible and reliable than temperature gradient.

Answer 27

F

Question 28

Uses the different restriction cut sites to detect mutations.

Answer 28

RESTRICTION FRAGMENT LENGTH
POLYMORPHISM

Question 29

HETERODUPLEX ANALYSIS
○ dsDNA with one or more mismatched
pairs.■ Wt – Mu

Answer 29

Heteroduplex

Question 30

HETERODUPLEX ANALYSIS
○ Perfectly paired dsDNA.
■ Wt (Wild Type) – Wt
■ Mu (Mutant) – Mu
○ Faster mobility in gel.

Answer 30

Homoduplex

Question 31

These ____ will cut kung merong naging bulge. Kung merong naging
mutation na hindi nag-perfectly pair. It will cut on those sides. Then, it will be release. After that, ang naiwan na lang ang need pang i-detect. So, the
reading will be much easier.

this is all i can find sowwy.

Answer 31

single-strand specific nucleases