Amplification refractory mutation

Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. 

The most widely used genetic screening technique, PCR-RFLP detects a mutation at a specific restriction endonuclease cleavage site at the mutation locus [9], The products from other techniques such as ARMS (amplification refractory mutation system), SSCP (single-strand conformational polymorphism), HPA (heteroduplex polymorphism), and CDCE (constant denaturant capillary electrophoresis) and PCR are usually separable using polymer networks. 

In Subheading 5. a few genotypic tests will be described. Using phenotypic assays, clinical isolates that display various levels of resistance to particular drugs have been identified. Often the researcher wants to know what mutations are responsible for this phenotypic resistance, in an attempt to understand and possibly to anticipate the development of the resistance. Because present-day clinical anti-HIV drugs are RT or protease inhibitors, sequencing protocols for clinical HIV-1 RT and protease genes will be described. Once researchers have established a stable relationship between resistance and particular mutations, tests that identify specific mutations may be very valuable and much faster than any other method. In this respect, the protocol for two amplification refractory mutation systems (ARMS) will be described, which use mutation-specific PCRs. Other useful assays are the point mutation assay (10) and LiPA (see also Chapter 10). 

The amplification refractory mutation system (ARMS) is a technique in which the target DNA is amplified using a common primer and either mutation specific primer for P-thalassemia or the correct sequence primer to the target. 

To analyze DNA mutations directly in the CF gene a technique can be used which is widely applicable in many areas of DNA analysis and mutation detection. This is the amplification refractory mutation system (ARMS). 

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