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...

glucose-6-phosphate dehydrogenase (g6pd) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. it is also characterized by remarkable molecular and biochemical heterogeneity. according to previous investigations, g6pd cosenza (g1376c) is a common g6pd mutation in some parts of iran. therefore in the present...

abstract objective: detection of p53 gene mutation on its codon 248 between iranian women with breast cancer by pcr-rflp. material and methods: dna extraction of tumor tissues was performed in 53 patients with primary breast cancer. designing primer for the sub-studying codon was performed with nti-vector software and detection of codon 248 mutation was done by msp i pcr_rflp. results: the soma...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...