Amplification Refractory Mutation System ARMS

Question 1

What does ARMS detect?

Answer 1

Single oligonucleotide changes

Question 2

What is ARMS detection based on?

Answer 2

Point mutations
(insertions and deletions)
Allele-specific oligonucleotide primer design

Question 3

What does allele-specific oligonucleotide primer design discriminate between?

Answer 3

Normal alleles
Mutant alleles

Question 4

Is a known mutation required to perform ARMS?

Answer 4

Yes

Question 5

How many primers are involved in ARMS?

Answer 5

2

Question 6

What are the 2 primers which are involved in ARMS?

Answer 6

Gene-specific
Mutant-specific

Question 7

Why are there 2 primers used in ARMS?

Answer 7

Specificity
Will only bind to normal OR mutant form

Question 8

What is produced by each gene region during ARMS?

Answer 8

Distinct fragment sizes

Question 9

How can distinct fragment sizes be analysed?

Answer 9

Capillary gel electrophoresis
Electropherogram

Question 10

What must the DNA Polymerase used during ARMS lack?

Answer 10

Proof-reading activity

Question 11

What is an example of a DNA polymerase which can be used during ARMS?

Answer 11

Taq1 Polymerase

Question 12

When will PCR not occur during ARMS?

Answer 12

If the 3’ end nucleotide of the allele-specific primer does not base pair correctly

Question 13

What type of PCR is ARMS?

Answer 13

Multiplex

Question 14

What does ARMS test for?

Answer 14

Simultaneously tests for several known CF mutations

Question 15

What is Cystic Fibrosis?

Answer 15

Inherited genetic mutation which causes mucous build-up

Question 16

What gene and chromosome is effected by CF mutation?

Answer 16

CFTR gene
Chromosome 7

Question 17

What systems are affected by CF?

Answer 17

Respiratory (lungs)
Digestive

Question 18

What is disrupted by CF?

Answer 18

Salt and water balance
Nutrient absorption

Question 19

What can happen to a patient suffering from CF?

Answer 19

Chronic infections

Question 20

How many variations of CF is there?

Answer 20

5

Question 21

What are the severe variations of CF?

Answer 21

1
2
3

Question 22

What are the mild/atypical variations of CF?

Answer 22

4
5

Question 23

What occurs during class 1 of CF?

Answer 23

Protein isn’t made
Defective protein synthesis

Question 24

What occurs during class 2 of CF?

Answer 24

Incorrect protein folding
Defective protein made

Question 25

What occurs during class 3 of CF?

Answer 25

Gating defect Disordered regulation

Question 26

What occurs during class 4 of CF?

Answer 26

Reduced ability to conduct chloride ions through channel Defective chlorine conductance

Question 27

What occurs during class 5 of CF?

Answer 27

Insufficient protein Decreased CFTR

Question 28

What is the most common variant of CF?

Answer 28

Phe508del

Question 29

If one parent is a carrier what can the child become?

Answer 29

Chronic carrier

Question 30

If two parents are carriers, what is the likelihood per pregnancy the child will have CF?

Answer 30

25%

Question 31

What feature is key for the labels used in ARMS?

Answer 31

Fluorescence

Question 32

What does a single blue peak mean?

Answer 32

Homozygote mutant

Question 33

What does a single green peak mean?

Answer 33

Homozygote wild type

Question 34

What does both a green and blue peak mean?

Answer 34

Heterozygote