نتایج جستجو برای: amplified refractory mutation system
تعداد نتایج: 2553865 فیلتر نتایج به سال:
Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
Due to the genetic mutation (fa) in gene encoding for leptin receptor, homozygous Zucker rats (fa−/−) develop excessive adiposity and become an experimental animal model obesity metabolic-related diseases research. Based on tetra-primer amplification refractory system-polymerase chain reaction (ARMS-PCR), we developed a method quickly genotype with mutated fa allele from their wildtype litterma...
Enhancement of pigment production potential Serratia marcescens (GBB151) through mutation and random amplified polymorphic deoxyribonucleic acid analysis its mutantsCecilia Nireti Fakorede, Babamotemi Oluwasola Itakorode, Olu Odeyemi, Gbolahan Babalola
single-nucleotide polymorphisms (snps) in mirnasmay alter its expression levels or processing and contribute to susceptibility to a wide range of diseases. our study aimed to evaluate the possible association between mirna-146a rs2910164 and mirna-499 rs3746444 polymorphisms and susceptibility to pulmonary tuberculosis (ptb) in a sample of iranian population. this case- control study was perfor...
background: alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. the aim of this study was to investigate the spectrum of α-thal mutations among premarital baluch couples in southeastern iran. subjects and methods: we assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-pcr) and amplification refractory mutation system (arms-pcr). results: of t...
EGFR (Epidermal growth factor receptor) is a key driver mutation frequently isolated in lung cancers and anti-EGFR TKIs (tyrosine kinase inhibitors) have demonstrated significant improvements patient outcomes comparison to conventional chemotherapy. This study assessed the prevalence clinical of mutations among Indian NSCLC cohort. Retrospective analysis 2548 patients who underwent mutational f...
Waxy sorghum has greater economic value than wild in relation to their use food processing and the brewing industry. Thus, authentication of waxy species is an important issue. Herein, a rapid sensitive Authentication Amplification Refractory Mutation System-PCR (aARMS-PCR) method was employed identify via its ability resolve single-nucleotide genes. As proof concept, we chose containing wxc mu...
Background: Thrombophilia is a main predisposition to thrombosis due to a procoagulant state. Several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. These thrombophilic mutations are methylenetetrahydrofolate reductase (MTHFR, C677T, and A1298C), factor V Leiden (G1691A), prothrombin gene mutation (factor II, G20210A), and plasminogen...
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