Frequency of a very rare 35delG mutation in two ethnic groups of Iranian populations

The 35delG mutation in the Connexin 26 gene (Cx26), at the DNFB1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (ARNSHL). We have studied a total of 224 deaf cases from 189 families in two populations of Iran (Sistan va Bluchestan and Hormozgan provinces) by prescreening nested PCR, polyacrylamide gel electrophoresis and consequent direct sequencing method for all cases. The aim of the present work was to find prevalence of GJB2 mutations in the populations studied. Four different GJB2 mutations including 35delG, W24X, R127H and (V27I + E114 G) were identified in 11 of 189 families (5.8). Two polymorphisms (V27I and V153I) also were detected in 14 families. A polymorphism S86T was determined in all cases. Homozygote 35delG mutation was found only in 1 of 189 families (0.5).The rate of Cx26 mutations found in this study was lower than other Iranian populations. So the cause of deafness in the populations studied remains to be detected in other loci or genes. © 2014, Iranian Journal of Public Health. All rights reserved

Frequencies of mutations in the connexin 26 gene (GJB2) in two populations of Iran (Tehran and Tabriz)

While hearing loss has been considered to be a very heterogeneous disorder, mutations in Gap junction beta 2 (GJB2) gene encoding Connexin 26 (Cx26) protein are the major cause of autosomal recessive and sporadic non-syndromic deafness in many populations. In this study, we have investigated the prevalence of the GJB2 gene mutations using nested PCR pre screening strategy and direct sequencing method. Two hundred and seventy two hearing impaired subjects were studied from 210 families obtained from two large cities of Iran (Tehran and Tabriz). Twenty four different genetic variants were identified. Cx26 mutations were found in 53 of the 210 families (25.2) including T8M, 35delG, W24X, R32H, V371, E47X, 167delT, delE120, Y136X, R143W, R184P, 235delC and V27I+E114G. Homozygosity and compound heterozygosity for the Cx26 mutations were found in 39 of 210 (18.5) families. Homozygosity for the 35delG mutation was the most common that causes hearing loss in 28 (13.3) patients. Six novel variants H16R, E101E, K102Q, G200R, 327delG and G130A were detected in this study. As a conclusion, the present survey revealed that the rate of mutation in Cx26 gene in our area is lower than in Europe; nevertheless, this rate is regarded as a considerable cause of deafness in the cited provinces in Iran

High carrier frequency of the GJB2 mutation (35delG) in the north of Iran

Objective: Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic non-syndromic hearing loss in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of mutations in Caucasians with a carrier frequency of 2-4% in Europe. This study aims to determine the rate of 35delG carrier frequency in Iran. Methods: Genomic DNA was extracted from a total of 550 unaffected unrelated subjects from 4 provinces of Iran following the standard phenol chloroform procedure. The one base pair deletion (35delG) was analysed using a nested PCR procedure; 35delG mutation carriers were subsequently confirmed by sequence analysis. Moreover, using the Binomial probability distribution, we compared the 35delG carrier frequency of Iranian population with the various Middle Eastern and overall European populations. Results: Of the four populations studied, we found a high carrier frequency of 2.8% in Gilan province in the north of Iran. The overall 35delG carrier frequency was found to be 1.25% in the populations studied (our present and previous data) which is similar to the overall 35delG carrier frequency detected in Middle Eastern populations, but Significantly tower than that identified in European populations. (c) 2007 Elsevier Ireland Ltd. All rights reserved

Genital infections and reproductive complications associated with Trichomonas vaginalis, Neisseria gonorrhoeae, and Streptococcus agalactiae in women of Qom, central Iran

Background: Trichomonas vaginalis (T.vaginalis) and Neisseria gonorrhoeae (N.gonorrhoeae) are two most common non-viral sexually transmitted infections in the world. No data are available regarding the epidemiology of genital infections in women of Qom, central Iran. Objective: Epidemiological investigation of sexually transmitted infections in genital specimens of women referred to the referral gynecology hospital in Qom, central Iran. Materials and Methods: Genital swab specimens were collected from women volunteers and used for identification of bacterial and protozoal infections by conventional microbial diagnostics, porA pseudo gene LightCycler® real-time PCR (for N.gonorrhoeae) and ITS-PCR (for T.vaginalis). Results: Of 420 volunteers, 277 (65.9%) had genital signs/symptoms, including 38.3% malodorous discharge, 37.9% dyspareunia, and 54.8% abdominal pain. Totally, 2 isolates of Streptococcus agalactiae were identified. Five specimens (1.2%) in Thayer-Martin culture and 17 (4.1%) in real-time PCR were identified as N.gonorrhoeae. Fifty-four specimens (12.9%) in wet mount, 64 (15.2%) in Dorset’s culture, and 81 (19.3%) in ITS-PCR showed positive results for T.vaginalis. Five mixed infections of T.vaginalis+ N.gonorrhoeae were found. The risk of T.vaginalis infection was increased in women with low-birth-weight (p=0.00; OR=43.29), history of abortion (p=0.00; OR=91.84), and premature rupture of membranes (PROM) (p=0.00; OR=21.75). The probability of finding nuclear leukocytes (p=0.00; OR=43.34) in vaginal smear was higher in T.vaginalis infection. Conclusion: The significant prevalence of trichomoniasis and gonorrhea emphasizes the need for accurate diagnosis and effective surveillance to prevent serious reproductive complications in women

Traffic-aware performance optimization in Real-time wireless network on chip

Network on Chip (NoC) is a prevailing communication platform for multi-core embedded systems. Wireless network on chip (WNoC) employs wired and wireless technologies simultaneously to improve the performance and power-efficiency of traditional NoCs. In this paper, we propose a deterministic and scalable arbitration mechanism for the medium access control in the wireless plane and present its analytical worst-case delay model in a certain use-case scenario that considers both Real-time (RT) and Non Real-time (NRT) flows with different packet sizes. Furthermore, we design an optimization model to jointly consider the worst-case and the average-case performance parameters of the system. The Optimization technique determines how NRT flows are allowed to use the wireless plane in a way that all RT flows meet their deadlines, and the average case delay of the WNoC is minimized. Results show that our proposed approach decreases the average latency of network flows up to 17.9%, and 11.5% in 5 × 5, and 6 × 6 mesh sizes, respectively.QC 20201221</p