Dense genotype data can be used to detect chromosome fragments inherited from a common ancestor in apparently unrelated individuals. A disease-causing mutation inherited from a common founder may thus be detected by searching for a common haplotype signature in a sample population of patients. We present here FounderTracker, a computational method for the genome-wide detection of founder mutati...

53 persons suspected to alpha1-antitrypsin deficiency detection (aatd) were investigated for zz, mz, zs, ss, and ms alleles analysis by serum protein electrophoresis (spe), measurement of trypsin inhibiting capacity (tic), isoelectric focusing (ief), polymerase chain reaction (pcr), and ief/pcr-rflp techniques. the result clearly shows by using spe and tic techniques only 35.85 % and 50.08% of ...

Objective(s): KRAS proto-oncogene mutation can be considered a diagnostic factor for treating various malignancies. Helicobacter pylori infection, a risk factor for stomach cancer, may cause DNA damage and genetic changes. The aim of the current study was to assess the association of gastric cancer and KRAS mutation, demographic factors, and H. pylori infection.<...

In clinical diagnostics a great need exists for targeted in situ multiplex nucleic acid analysis as the mutational status can offer guidance for effective treatment. One well-established method uses padlock probes for mutation detection and multiplex expression analysis directly in cells and tissues. Here, we use oligonucleotide gap-fill ligation to further increase specificity and to capture m...

objective: jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems that occur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. it is suggested that race plays an important role in the prevalence of hyperbilirubinemia. it is a common problem in iran that worries both parents and pediatricians. it has been found that a mutation in the ugt...

The presence of the JAK2 V617F mutation is now part of clinical diagnostic algorithms, and JAK2 status is routinely assessed when BCR/ABL- chronic myeloproliferative neoplasms (MPNs) are suspected. The aim of this study was to evaluate performance of 3 screening and 1 quantitative method for JAK2 V617F detection. For the study, 43 samples (27 bone marrow aspirates and 16 peripheral blood sample...

The detection of epidermal growth factor receptor (EGFR) mutations is necessary for the selection of suitable patients with non-small cell lung cancer (NSCLC) for treatment with EGFR tyrosine kinase inhibitors. Cytology specimens are known to be suitable for EGFR mutation detection, although tissue specimens should be prioritized; however, there are limited studies that examine the utility of b...

breast cancer is the most common cancer among women in developed countries. the prevalence of the disease is increasing in the world. its annual incidence among iranian women is about 7000 cases. rap1a, a tumor suppressor gene, is located at 1p13.3 and plays an important role in the cellular adhesion pathway and is involved in the pathogenesis of breast cancer. the dock4 gene, which is located ...

apple scar skin viroid (assvd) is one of the most destructive viroid diseases in pome fruits orchards which can cause significant economic losses. symptoms of this viroid including scaring, distortion and dappling were seen in some apple orchards in east-northern of iran. sampling was carried out from apple and pear orchards. the rna was extracted by silica capture method from leaves. assvd was...

Introduction and aim. Mutation(s) in the gene encoding CD19 molecule affect protein expression primary immunodeficiency (PID) occurs. The PCR-RFLP method, which is faster cheaper than other mutation detection methods, rarely used diagnosis of PID. study aimed to genetically identify deficiency, a PID, using method. Material methods. A total 8 patients two healthy controls were included relevant...