gene mutations

Question 1

Because there is more than one codon for most of the
amino acids, DNA sequence changes do not necessarily
change the amino acid sequence

true or false

Answer 1

true

hindi naman agad agad ng mutation take effect agad, edi lahat na siguro ng person eh mutated na

Question 2

a change in singleo or few base pairs is called as

Answer 2

point mutation

Question 3

this type of mutation occurs because the genetic code is redundant

Answer 3

silent mutation

Question 4

this type of mutation has changes in the dna sequence but does not have an effect in the amino acid

Answer 4

silent mutation

Question 5

this type of mutation does not have a protein effect

Answer 5

silent mutation

Question 6

what type of mutation is this

-Amino acid changes

-New amino acid has similar biochemical properties

-Protein function usually preserved

Answer 6

conservative substitution

Question 7

what type of mutation is this

-Amino acid replaced by a biochemically different one

-Alters protein structure or function

-More likely pathogenic

Answer 7

nonconservative substitution

Question 8

what type of mutation is this, leucine replaced by valine

Answer 8

conservative substitution

Question 9

a type of mutation wherein a base substitution creates a stop codon

Answer 9

nonsense mutation

Question 10

this type of mutation will result in premature protein termination

Answer 10

nonsense mutation

Question 11

~11% of disease-causing mutations

Answer 11

nonsense mutation

Question 12

this type of mutation Produces truncated, usually nonfunctional proteins

Answer 12

nonsense mutation

Question 13

Insertion or deletion of other than a multiple of three
nucleotides results in a_______, throwing the
triplet code out of frame.

Answer 13

frameshift mutation

Question 14

Occurs when insertion/deletion is not a multiple of 3

Answer 14

frameshift mutation
diba kasi may codon tayo, lagi un tatlo

example: aug uga uaa

kapag nadelete ang isa
aug uga ua –> frameshift mutation

pero kapag 3 ang deleted
aug uga
walang frameshift mutation

same applies to insertion

Question 15

the effect of mutation depends on the location.

if it happen in 5′ end (N-terminus) mutations → _________ will happen

Answer 15

major protein disruption

Question 16

the effect of mutation depends on the location.

if it happen in 3′ end (C-terminus) mutations → _________ will happen

Answer 16

minimal effect

Question 17

Identifies exact mutated base

Shows neighboring sequence context

Answer 17

sequencing

Question 18

example of gene mutation that is recurrent and common, as well as , Occur frequently at the same genetic location

Answer 18

factor V leiden
Hemochromatosis mutations: C282Y, H63D, S65C

Question 19

Factor V Leiden

Hemochromatosis mutations: C282Y, H63D, S65C

👉 Because these mutations are common and well-defined, they can be detected using______, not whole-gene sequencing.

Answer 19

simple, targeted tests

Question 20

Some genes have hundreds to thousands of disease-associated mutations:

CFTR → _______mutations

Answer 20

> 600

Question 21

Some genes have hundreds to thousands of disease-associated mutations:

BRCA1 / BRCA2 → ____mutations

Answer 21

> 2,000

Question 22

in genes such as CFTR and BRCA1 and BRCA2,
👉 Targeted tests are insufficient
👉 Requires large-scale sequencing (NGS or genome scanning)

kasi?

Answer 22

because it has lots of disease associated mutation, ano naman kung malaman na meron siyanng mutation to those gene, malalaman ba natin kung aling organ or what disease specifically siya?

no diba, kasi nga marami siyang associated kaya need natin ng sequencing

Question 23

Sometimes it is better to measure the protein or metabolic effect directly rather than search for the DNA change

this method refers to _____-

Answer 23

biochemical method

Question 24

________ are used to directly analyze the change in protein structure or function rather than to
search for potential point mutations

Answer 24

Biochemical methods

Question 25

________methods are especially useful when: Multiple genes cause the same phenotype The functional protein defect is what matters

Answer 25

Biochemical

Question 26

Biochemical methods — what they detect What they analyze

Answer 26

Protein presence Protein amount Protein function Metabolites affected by enzyme defects

Question 27

_____________ is a longstanding biochemical method that allows detection of protein abnormalities in situ so that the tissue and intracellular location of mutant proteins (or lack thereof) can be observed.

Answer 27

Immunohistochemistry

Question 28

are flexible, potentially high-through put methods for detecting a variety of analytes. These methods involve the use of specific antibodies or other ligands to detect the presence of the target molecules

Answer 28

immunoassays

Question 29

For this type of assay, plate wells, strips, or capillaries coated with capture antibody are exposed to test fl uid (serum, plasma, or urine) that is diluted in the appropriate assay buffer

Answer 29

enzyme immunoassay

Question 30

If the analyte is present in the test fluid, it will bind to the immobilized antibody. After rinsing away unbound material, detection antibodies covalently linked to _________ are introduced.

Answer 30

alkaline phosphatase or horseradish peroxidase

Question 31

detects and localizes specific proteins directly in tissue sections, while preserving tissue morphology.

Answer 31

IHC

Question 32

thickness of the cut tissue if from Fixed tissue (paraffin-embedded) Thickness: ___- µm

Answer 32

<5

Question 33

thickness of the cut tissue if from Frozen tissue Thickness: __ µm

Answer 33

5–15

Question 34

Disadvantage of fixed tissue in IHC

Answer 34

formalin can alter or mask epitopes

Question 35

Because fixation masks epitopes: what could be the resolution

Answer 35

Enzymatic digestion (proteinase K, trypsin, etc.) Heat treatment in water or buffer 👉 Restores antibody access to epitopes

Question 36

frozen section in IHC is fixed with __

Answer 36

Fixed in acetone, not formalin

Question 37

explain the treatment antigen retrieval.

Answer 37

application of enzyme or heat in fixed tissue section during the IHC testing to retrieve the masked epitopes of antigen

Question 38

fixed section in IHC is fixed using what instead of formalin

Answer 38

acetone

Question 40

Why use frozen tissue in IHC

Answer 40

Better epitope preservation Less antigen masking Slightly less morphology detail than paraffin

Question 41

substances that is mentioned in buckingham book that interferes with IHC

Answer 41

Tissues contain: Endogenous peroxidase Natural fluorescence Nonspecific antibodies

Question 42

substances such as the ff will interfere with the result, how to resolve this problem? Tissues contain: Endogenous peroxidase Natural fluorescence Nonspecific antibodies

Answer 42

blocking the background staining with the ff hydrogen peroxidase, uv light , 1percent serum 0.1 percent of sodium azide with 0.3 percent hydrogen peroxide

Question 43

this blocking agent blocks endogenous peroxidase

Answer 43

hydrogen peroxidase

Question 44

this blocking method reduces autofluorescence

Answer 44

uv light

Question 45

this blocking solution is used for nonspecific antibodies

Answer 45

1 percent serum, albumin, and detergents can be used as well

Question 46

this blocking agent is used for frozen sections

Answer 46

0.1 percent Sodium azide + 0.3 percent H₂O₂

Question 47

Detection systems (HOW signal is generated)

Answer 47

through fluorescent signals and colorimetric signals

Question 48

Fluorophores: _________ signal appears when excited by light

Answer 48

fluorescein, Cy5, phycoerythrin

Question 49

Color generation will depend on the substrate; however, ____________- IHC staining is the most frequently used

Answer 49

red or brown

Question 50

a staining wherein Label is attached to primary antibody

Answer 50

direct staining

Question 51

For _________antibody staining, the fluors or enzymes are attached to the antibody that directly binds the target molecules in the tissue (primary antibody)

Answer 51

direct

Question 52

which one is faster? direct or indirect staining?

Answer 52

direct staining

Question 53

In ________staining, the primary antibody is not attached to the signaling molecule.

Answer 53

indirect

Question 54

A second or secondary antibody binds the primary anti body (usually from a different species, such as rabbit, mouse, or goat), carries the signal

Answer 54

indirect staining

Question 55

The binding of a single primary antibody by multiple secondary antibodies amplifies the signal, allowing greater sensitivity of detection what type of staining is this

Answer 55

indirect staining

Question 56

which one is more commonly used staining, indirect or direct

Answer 56

indirect staining, mas sensitive kasi. mas faster lang si direct

Question 57

purpose of the positive control

Answer 57

confirms if the antibody works

Question 58

purpose of the negative control

Answer 58

confirms and check the specificity kapag negative control dapatt no reaction, kapag nag react, measn false positive. Not specific yan siya

Question 59

longstanding pathology standard

Answer 59

IHC

Question 60

It provides the advantage of integrating target detection, localization, and quantification in the context of tissue morphology.

Answer 60

IHC

Question 61

Targeted therapeutic agents have increased the use of IHC to assess tissue expression of the target molecules. This guides treatment strategy at a relatively low cost compared with other methods. TRUE OR FALSE

Answer 61

TRUE

Question 62

separates and analyzes molecules in a liquid mobile phase as they pass through a stationary phase, based on differential interactions.

Answer 62

HPLC

Question 63

Developed from plant pigment separation

Answer 63

HPLC

Question 64

gold standard of the sequencing

Answer 64

sanger sequencing