Background:  Atorvastatin is prescribed for the primary and the secondary prevention of coronary artery diseases. A wide variation in inter-individual statin response suggests that genetic differences may contribute to this variation. This study investigated the association of ABCB1 (C3435T) and ABCC1 (G2012T) polymorphisms with clinical response to atorvastatin in Iranian primary hyperlip...

BACKGROUND Wilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming. OBJECTIVES The aim of this study was to provide a simple multiplex amplific...

INTRODUCTION We aimed to design a real-time reverse-transcriptase-PCR (rRT-PCR), high-resolution melting (HRM) assay to detect the H275Y mutation that confers oseltamivir resistance in influenza A/H1N1 2009 viruses. FINDINGS A novel strategy of amplifying a single base pair, the relevant SNP at position 823 of the neuraminidase gene, was chosen to maintain specificity of the assay. Wildtype a...

background: leishmaniasis is a tropical disease that is endemic in some areas of iran, including east azerbaijan . ifn-γ is one of the cytokines that triggers cell-mediated immunity, thus initiating elimination of the infection. this case-control study was performed to investigate the association between the polymorphism of the ifn-γ gene at the +874a/t locus and visceral leishmaniasis (vl). me...

Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). ...

The present study aimed to explore the influence of T790M neighboring single nucleotide polymorphism (SNP) on the sensitivity of amplification refractory mutation system (ARMS)-based T790M mutation assay. Three ARMS-quantitative polymerase chain reaction (qPCR) systems (system 1 had a forward ARMS primer without rs1050171, system 2 included a forward ARMS primer with rs1050171 and system 3 cont...

Amylose content (AC) is the major indicator of rice eating and cooking quality (ECQ). Its synthesis in endosperm mainly regulated by protein, granule-bound starch synthase 1, which encoded waxy gene (Os06g0133000, LOC_Os06g04200). The diversity AC largely attributable to allelic variation at Wx locus development effective accurate functional molecular markers target variant alleles crucial bree...