INTRODUCTION Depending on the response to standard steroid therapy, nephrotic syndrome it is classified to steroid-sensitive and steroid-resistant nephrotic syndrome (SRNS). Mutations in several genes including NPHS2 have been implicated in SRNS. Gene R229Q polymorphism (p.R229Q) of NPHS2 is associated with adolescent- or adult-onset SRNS in European and South American populations. We investiga...

Objectives: Recurrent pregnancy loss (RPL) is a heterogeneous condition consisting of three or more consecutive abortions before the 20 weeks of gestation. The tumor necrosis factor alpha (TNF-α) gene plays a crucial role in immunology and inflammation responses. Interleukin 1 receptor antagonist (IL-1RN) is an important anti-inflammatory molecule which plays important roles in pregnancy. The a...

OBJECTIVE Hereditary hearing impairment is a genetically heterogeneous disorder. In spite of this, mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries and are largely dependent on ethnic groups. The purpose of our study was to characterize the type and prevalence of GJB2 mutations among Azeri population of Iran. M...

Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an auto-somal recessive disease, predominantly affecting people of Mediterranean descent, although recently it has been described in many other populations (1-3). Linkage between the gene responsible for FMF (MEFV) and the short arm of chromosome 16 was first shown in 1992. Mediterranean Fever (MEFV) gene ...

AIMS Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In the present study, for the first time, we determined the spectrum of CFTR gene mutations in 100 patients with CF originated from the Iranian Azeri Turkish ethnic group. RESULTS Here, we report identification of 17 previously known and one novel mutation...

Background:Many case-control investigations have showed the correlation of TP53 gene polymorphisms with the risk of breast cancer. However, the findings are not consistent. It has been suggested that the investigation of P53 genotype combinations and haplotypes may be more helpful than the detection of single polymorphisms. In the present study, we investigate...