Rapid quantitation of gene therapy specific CFTR expression using the amplification refractory mutation system.

Multiplex Tetra-Primer Amplification Refractory Mutation System Polymerase Chain Reaction to Genotype SNP8NRG221533 of Neuregulin-1 Gene

Schizophrenia is a severe neuropsychiatric disorder with symptoms such as hallucination, delusion and mental disorder. It is a complex disorder, in which genetic components play a crucial role in its pathogenesis. Among candidate genes for schizophrenia, Neuregulin 1 (NRG1) gene is the most important gene,  association of which with the illness has been confirmed in several studies. Single nucl...

Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR.

Mutation and Rare Polymorphisms Insight in Exons 7 and 20 of CFTR Gene in Non-Caucasian Cystic Fibrosis Patients

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...

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

Low Frequency of C-MPL Gene Mutations in Iranian Patients with Philadelphia-Negative Myeloproliferative Disorders

Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the fre...