objective(s) despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the gjb2 gene. we aimed to characterize the mutation profiles of 100 iranian deaf patients that were under 10 years old. materials and methods patients were tested with direct sequencing of entire coding region of the gjb2 gene. results eight known mutations plus...

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most frequent genetic enzymatic disorder in hu­man, which is inherited as an x-linked gene. it encodes a housekeeping enzyme, which is vital for cell survival. accord­ing to previous investigations, mediterranean mutation (c563t) of g6pd gene is the most prevalent mutation in some prov­inces of iran and neighboring countries...

HIGHLIGHTS Mutational analysis of antibiotic resistant genes E. coli in UTI Patients. These were detected by PCR and sequenced using NGS. isolates positive for GyrA gene, GyrB tetB tetR gene. The novel mutation was gyrB gene at codon554.

Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...

Talking about thyroid carcinomas leaves a fairly wide slope, in which it should be considered not only the variants and their clinical frequency, but mutant genetic finding that gives preamble to malignancy, its variability, histological as well prognosis. It is important note most frequent carcinoma population papillary, with an index greater than 80% of all cases, being rare pediatrics. The p...

Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. Methods: A six-year-old boy from Khuzestan Province and his par...

Objective: Identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. Methods: Najdi Cattle is the most prominent breeds in Khuzestan province. To do this plan in Shoushtar Najdi Cattle Station, blood samples were taken from 15 Najdi Cattles. DNA was extracted from wh...

Background: In 10-30% of the cases with sarcoidosis, skin lesions appear solely without any systemic signs or symptoms. BTNL2 gene, which is a member of the immunoglobulin gene super family and is associated with CD86 and CD80 co-stimulatory receptors, is identified to play an important role in the establishment of sarcoidosis. We aimed to evaluate the role of this gene in patients with skin sa...