conclusions hbv in children due to vaccination failure was resulted from vertical transmission. hbv pre-s/s gene mutations were prevalent and could occur before or after vaccination. therefore, simply analyzing mutation frequency of hbv gene was not of value. to advance blocking hbv vertical transmission, future studies should focus on specific mutation sites, potentially associated with vaccin...

early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...

Background and Objective: Epidermal growth factor receptor (EGFR) gene mutation, especially in exons 18 to 21, is an important predictor of the response rate of lung adenocarcinoma to tyrosine kinase inhibitors. There are variable reports from Asian and European countries, as well as North America, about the frequency of the EGFR mutation in lung adenocarcinoma, yet molecular s...

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. gene mutation was located at 177251854 on chromosome 5, identified as shear mutation, c.4765+1...

objective(s) despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the gjb2 gene. we aimed to characterize the mutation profiles of 100 iranian deaf patients that were under 10 years old. materials and methods patients were tested with direct sequencing of entire coding region of the gjb2 gene. results eight known mutations plus...

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most frequent genetic enzymatic disorder in hu­man, which is inherited as an x-linked gene. it encodes a housekeeping enzyme, which is vital for cell survival. accord­ing to previous investigations, mediterranean mutation (c563t) of g6pd gene is the most prevalent mutation in some prov­inces of iran and neighboring countries...

HIGHLIGHTS Mutational analysis of antibiotic resistant genes E. coli in UTI Patients. These were detected by PCR and sequenced using NGS. isolates positive for GyrA gene, GyrB tetB tetR gene. The novel mutation was gyrB gene at codon554.

Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...