The most studied single nucleotide polymorphisms of the VDR gene are Bsm1, Apa1, Taq1 and Fok1. Previously, many approaches have been used to study SNPs in VDR gene including restriction fragment length polymorphism (RFLP), Single Amplification refractory mutation system PCR (Single-ARMS-PCR), and sequencing of the VDR gene. The objective of the study was to develop a multiplex ARMS-PCR system ...

Polymerase chain reaction (PCR), followed by restriction digestion is universally used for molecular diagnosis of spinal muscular atrophy (SMA). In the present study, we have used a modified strategy based on amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to develop a rapid and reliable method for mutation detection and prenatal diagnosis in SMA patients. The telo...

Background: It is estimated that about 3,000 pregnancies in Iran are at risk for b-thalassemia each year. Objective: To evaluate the diagnostic accuracy of combination of ARMS/PCR and  RFLP/PCR techniques in prenatal diagnosis of b-thalassemia.Methods: Sixty-seven b-thalassemia carrier families were enrolled in this study. To analyze b-globin gene, amplification refractory mutation system (ARMS...

OBJECTIVES A mutation in the JAK2 gene, V617F, has been identified in several BCR-ABL1 negative myeloproliferative neoplasms (MPN): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Defining the presence or absence of this mutation is an essential part of clinical diagnostic algorithms and patient management. Here, we aimed to evaluate the performance of t...

Background The AURA3 clinical trial has shown that advanced non-small cell lung cancer (NSCLC) patients with EGFR T790M mutations in circulating tumor DNA (ctDNA) could benefit from osimertinib. Purpose The aim of this study was to assess the usefulness of QuantStudio™ 3D Digital PCR System platform for the detection of plasma EGFR T790M mutations in NSCLC patients, and compare the performanc...

The amplifi cation refractory mutation system (ARMS), which has also been described as allele-specifi c PCR (ASP) and PCR amplifi cation of specifi c alleles (PASA), is a PCR-based method of detecting single base mutations (Newton et al., 1989). ARMS has been applied successfully to the analysis of a wide range of polymorphisms, germline mutations and somatic mutations. The technique has the ab...