Background: Varicocele is the abnormal tortuosity and dilatation of the veins of the pampiniform plexus within the spermatic cord. Varicocele-related pathology is suspected in infertility as it leads to elevated temperatures in the scrotum and testes, which has a deleterious effect on spermatogenesis. In Varicocele patients, ROS production is enhanced and total antioxidant capacity (TAC) is red...

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

Utilization of fecundity genes such as GDF9 and BMP15 can help improve reproductive traits in sheep breeding programme. To evaluate effects of missense mutations on protein function, the polymorphisms of GDF9 and BMP15 genes were screened in twelve mehraban sheep using DNA sequencing, followed by protein structure modeling. Six single nucleotide polymorphism (SNPs) known as FecG mutations (G1-G...

background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

the aim of this study was to investigate the frequency, location and type of rpob gene mutations in mycobacterium tuberculosis (mtb) collected from patients in the southern endemic region of iran. drug susceptibility testing was determined by using the bactec system and the center for diseases control’s (cdc) standard conventional proportional method. in 29 rifampicin-resistant mtb (85%) isolat...

familial mediterranean fever (fmf) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the mediterranean sea. it is characterized by recurrent episodes of fever and polyserositis and rash. recently, mefv gene analysis determines the definitive diagnosis of fmf. in this study, we analyzed 12 mefv gene mutations in more than 200 fmf patients, pr...

Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin  haemoglobin[T2]  H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hem...

Background: Patients with diabetes mellitus type II suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. There are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. In this st...

Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study woul...