Use of arms in the diagnosis of point mutations in Beta thalassemia patients

Abstract

Amplification Refractory Mutation System (ARMS) using allele-specific primers allows direct identification of point mutations and small insertions or deletions by PCR amplifications. Two primers differing only at the site of mutation are used to amplify the test samples in separate reactions. These sequence specific PCR primers allow amplification of test DNA only when the target allele is contained within the sample and will not amplify the non-target allele. In this project, (-thalassemia) patients diagnosed with the 41/42 mutation were subjected to this method of detection. We demonstrate that the ARMS technique is a simple and reliable method for detecting this point mutation.