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...

background: vasopressin type 2 receptor (v2r) plays an important role in the water reabsorption in the kidney collecting ducts. v2r is a g protein coupled receptor (gpcr) and the triplet of amino acids aspartate-arginine-histidine (drh) in this receptor might significantly influence its activity similar to other gpcr. however, the role of this motif has not been fully confirmed. therefore, the ...

pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...

familial adenomatous polyposis (fap) is responsible for < 1% of colorectal cancer (crc) cases and is inherited as an autosomal dominant trait. patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (apc) tum...

background co-infection with human immunodeficiency virus (hiv) and hepatitis b virus (hbv) is common due to shared routes of transmission, as reported approximately 10% of 33 million hiv-infected patients worldwide are chronically infected with hbv. mutations of hbsag especially within the “a” determinant could alter the antigenicity of the protein, causing failure of hbsag neutralization and ...

epilepsy is one of the most common neurological disorders. studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. moreover, some chromosomal aberration including ring chromosomes will result i...

tyrosinase (ec: 1.14.18.1) is a copper - containing enzyme which is distributed in all domains of life such as prokaryote, eukaryote, mammals, invertebrates and plants. tyrosinase catalyzes the oxidation of monophenols to diphenols and diphenols to o-quinones . the tyrosinase crystallographic data shows two histidine -rich regions named cua and cub. a loop containing residues m374, s375 and v37...

Beta thalassemia is the  most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...

In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...