mitochondria are membrane-enclosed organelle found in most eukaryotic cells, which known as power house in cells. this organelle transforms energy into forms that are usable by the cell. the most common psychiatric disorders such as depression and anxiety can be linked to mitochondrial disorders. furthermore, mutations of mitochondrial or nuclear dna (mtdna and ndna, respectively) have been lin...

how to cite this article: rashnonejad a, onay h, atik t, atan sahin o, gokben s, tekgul h, ozkinay f. molecular genetic analysis of survival motor neuron gene in 460 turkish cases with suspicious spinal muscular atrophy disease. iran j child neurol. autumn 2016; 10(4):30-35. abstract objective to describe 12 yr experience of molecular genetic diagnosis of spinal muscular atrophy (sma) in 460 ca...

Multiple endocrine neoplasia type 1 is an autosomal dominant cancer syndrome characterized by pituitary, parathyroid and enteropancreatic endocrine tumors, which is caused by germline mutations of the tumor suppressor gene MEN1. In the case reported here, the patient had family with this disease whose germline MEN1 mutation was undetectable by conventional sequencing analysis. Further investiga...

The aim of this study was to examine TP53 gene deletion in esophageal cancer (EC) tissues obtained from patients and to evaluate its clinical significance. Forty surgical specimens from patients with esophageal squamous cell carcinoma were examined for TP53 gene deletion using the fluorescence in situ hybridization (FISH) technique. Thirty-two male and 8 female patients were enrolled, with an a...

Clostridium plays an important role in commercial and medical use, for which targeted gene deletion is difficult. We proposed an intron-anchored gene deletion approach for Clostridium, which combines the advantage of the group II intron "ClosTron" system and homologous recombination. In this approach, an intron carrying a fragment homologous to upstream or downstream of the target site was firs...

As an initial step in evaluating the role of tumor suppressor genes in leukemogenesis, we surveyed primary leukemia cells from 130 patients for possible deletion of the retinoblastoma susceptibility (Rb) gene by Southern blot analysis. Two of them clearly showed homozygous deletion of Rb alleles. The first patient was a pre-B acute lymphoid leukemia (ALL) associated with a cytogenetic transloca...