objective: methylmalonic acidura (mma) is a rare autosomal recessive inborn error of metabolism. in this study we present a novel nucleotide change in the mutase (mut) gene of two unrelated iranian pedigrees and introduce the methods used for its functional analysis. materials and methods: two probands with definite diagnosis of mma and a common novel variant in the mut were included in a descr...

background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

Tumour mutation burden (TMB) is a biomarker for cancer immune checkpoint blockade (ICB) response, and signatures provide “life history” of tumour evolution. Researchers have repurposed gene panels (CGPs) to cheaply estimate these parameters. The low coverage CGPs, however, may be problematic in the exploration TMB as ICB. Restriction enzyme associated DNA sequencing (RADseq) uses restriction en...

diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...

cystic fibrosis (cf) is the most common inherited disorder in caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (cftr) mutations. the type of mutations and their distributions varies widely between different countries and/or ethnic groups. seventy iranian cystic fibrosis patients were screened for the cftr gene mutation using arms/pcr (amplification refra...

background: for screening sequence variations in genes, rapid turnover time is of fundamental importance. while, many of the current methods are unfortunately time consuming and technically difficult to implement. denaturing high-performance liquid chromatography (dhplc) method had been shown to be a high-throughput, time saving, and economical tool for mutation screening. objective: in the pre...

Serious concerns have been expressed about potential health risks of Nano silver containing consumer products (AgNPs) therefore regulatory health risk assessment on such nanoparticles has become mandatory for the safe use of AgNPsinbiomedicalproducts with special concerns to the mutagenic potentials. In this study, we examined the inhibitory and mutagenicity effects of AgNPs in three different ...

Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...