Objective(s):  More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...

background: mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. however, the frequency of mitochondrial trna mutations in asthma is largely unknown. ...

conclusions these data will be beneficial for designing more advanced antibodies for the recognition of the hbsag in diagnostics. in addition, the results of this study may assist in the design or development of more effective hepatitis b vaccines. results the g145r mutation causes a considerable reduction in the immunogenic activity of the hbsag through a conformational change in the hbsag ant...

introduction: to study the prevalence of most common β-thalassemia mutations in lorestan province and use the results for epidemiologic study and prenatal diagnosis of β_thalassemia major. material and methods: 130 chromosomes from 65 unrelated homozygous β_thalassemia patients from lorestan province of iran (west-central) were investigated for β globin gene mutations by arms pcr. results: most...

objective(s):  more than 1500 registered mutations in cystic fibrosis transmembrane regulator (cftr) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (cf). this study was performed to investigate the frequency of a number of well-known cftr mutations in north eastern iranian cf patients. material and m...

Mutations in the BRCA1 gene are known to be a major cause of hereditary breast cancer. However, characterizing the point mutationsassociated with cancer in BRCA1 is challenging because the functional impact of most of them is still unknown. Nowadays, a variety of methods are employed to identify cancer-associated mutations in BRCA1. This study is aimed to ass...

severe  congenital  neutropenia  (scn)  is  a  rare  primary  immunodeficiency   disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr  and  g6pc3.  the  aim  of  this  study  was  to  find  different  gene  mutations responsible for scn in iranian patients. twenty-seven   patients   with   scn  referred   to  immunology,   asthma   and  allergy r...

results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...