AIM Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe), and production of the phenylketonuria disease. To date there have been no reports on the molecular analysis of phenylketonuria in the Iranian Azeri Turkish population. In this study, a total ...

Abstract Background Interleukin (IL)-10 is one of the key interleukins in immune system. It plays an anti-inflammatory role body by inhibition synthesis pro-inflammatory cytokines and reducing expression major histocompatibility complex II molecules. The single-nucleotide polymorphism gene this interleukin affects its level. Thus, study was conducted to investigate IL-10 at position -1082A/G Az...

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) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation...

Background: This study was done in order to enhance our understanding about molecular and epidemiological features of breast cancer among the Azeri population with special emphasis on the detection of TP53 mutations. We also analyzed the role of the P53codon72 polymorphism (rs1042522) and its role in susceptibility to breast cancer. Methods: ...

objective: familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. fmf is caused by mutations in the mefv gene and are found usually among mediterranean populations, armenians, turks, arabs and jews. the aim of this study was to determine the frequency of mefv gene mutations among...

BACKGROUND Emerging evidence suggests that neighborhood characteristics can have direct and indirect effects on the weight status of the residents. OBJECTIVES To assess the relationship between general and central obesity and the neighborhood environment in two ethnic groups (Azeri Turks and Kurds) living in Urmia city, Northwestern Iran. PATIENTS AND METHODS In this cross-sectional study, ...