What is Amplification Refractory Mutation System?

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Article by Blaise Wellesley (1,040 pts ) Famous Geneticists Molecular Biology

Edited & published by lrohner (22,519 pts ) on Nov 9, 2010

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Besides being the up and coming way to detect mutations in DNA, what exactly is amplification refractory mutation

system? How is the procedure helping individuals today?

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Amplification Refractory Mutation System (ARMS), also called allele-specific polymerase chain reaction (ASP) and ● The Meselson-Stahl Experiment
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polymerase chain reaction amplification of specific alleles (PASA), is a method used to detect single base pair Criminology
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as sickle-cell anemia. ARMS has the ability to isolate low levels of a mutant sequence in a background of wild-type

DNA. The system depends on the specificity of a primer for the normal sequence and another primer for the mutation.

The first demonstration of ARMS occurred in 1989 by Newton et al. The system, when performed correctly, is simple,

reliable, and is able to show the genotype for a given allele. In the study, ARMS was applied to patients with α1-

antitrypsin deficiency, who were either carriers of the disease and to non-affected individuals. The findings of the first

study were in full agreement with allele assignments that were derived from direct PCR sequencing.

Process

As previously mentioned, ARMS is noted for being highly specific for a normal primer and a mutant primer. ARMS is

based on allele-specific priming of the PCR process which, after the process is complete, can reveal the genotype of

the patient in question. The process requires normal primers, common primers and mutant primers. The normal primer

is matched at its 3’ end to the normal nucleotide and is mismatched at its 3’ end to the mutant nucleotide. The reverse

happens as well; the mutant primer is matched at the mutant nucleotide and mismatched at the normal sequence.

A mismatched 3’ end of a the primer prevents nucleotide expansion during DNA synthesis in a PCR reaction, and,

consequently, no reaction occurs. In an ARMS reaction, DNA is split into two aliquots, one undergoes reaction with

normal primers, while the other with mutant primers. The formation of a product is measured by gel electorphoresis. If a

product is formed when the normal primers are used, then the DNA sample used came from a patient who is
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What is Amplification Refractory Mutation System?

homozygous for the normal nucleotide. If products are present in both reactions, the patient is heterozygous. Lastly, if

only one PCR product exists from the mutant primers, then the patient is homozygous for the mutation.

Because of ARMS' ability to detect single nucleotide polymorphisms (SNPs) in heterozygote patients, the technique has

been increasingly popular. A few studies have been produced that examine mutations in patients where ARMS has

been used.

Detection of JAK2 V617F Mutation in Human Myeloproliferative

Disorders

A mutation in JAK2 has been discovered in human myeloproliferative disorders, in which the detection of the mutation

can aid in diagnosis and treatment. JAK2 is a cytoplasmic tyrosine kinase that participate in signaling pathways of

cytokines. The mutation (thymine to guanine) which leads to a change of valine from phenylalanine turns JAK2 active

and leads to rapid cell growth. Utilizing a procedure with ARMS has allowed researchers to create a diagnostic test for

the disorder.

The researchers isolated DNA from multiple patients with human myeloproliferative disorders, and ran samples through

an original and modified methods of ARMS-PCR (Figure 1). The design of the primers and the assay is found in Figure

2, which details where the primers attached to the JAK2 gene.

At the conclusion of the study, the researchers were able to use the modified version of ARMS for clinical testing of the

JAK2 mutation that yielded better results. With the modified version, the gel electrophoresis gave clearer results than

the original; this is due to the high sensitivity of ARMS (Figure 3). The results of the study gave a sensitivity range of

about 0.05 to 0.1% making ARMS a helpful diagnostic tool in examining human myeloproliferative disorders.

Figures

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What is Amplification Refractory Mutation System?

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