autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...

Background: Co-inheritance of hemochromatosis (HFE) gene mutations may play an essential role in the pathogenesis of iron overload in beta-thalassemia major (BTM) patients. The present study aimed to investigate the prevalence of HFE C282Y and H63D mutations in BTM patients and their correlation with some demographic data and biochemical iron markers. Materials and Methods: The study populat...

aim : we aimed to explore the frequency of braf v600e mutation in iranian patients with colorectal cancer (crc) as well as its association with clinic pathological characteristic of patients.   background : crc is the third leading cause of cancer related death. there is a growing body of data showing the association of braf v600e mutation with malignant transformation and clinical outcome of d...

Detection of Lack Function Mutation p.Q879X Affecting Abortion in APAF1 Gene Holstein Cattle

Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGF?1 gene. A young woman was hospitalized with intense pain in lower limbs, associated radiographic hyperostosis and sclerosis long bones. Mutation LRP6 has recently been high mass. In this case report, missense variant gene...

hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...

Objective: Identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. Methods: Najdi Cattle is the most prominent breeds in Khuzestan province. To do this plan in Shoushtar Najdi Cattle Station, blood samples were taken from 15 Najdi Cattles. DNA was extracted from wh...

Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...