Genetics in the Third Millennium
Volume:14 Issue: 4, Autumn 2016

Facioscapulohumeral Muscular Dystrophy (FSHD)is characterized by weakness of the facial, scapular muscles and the dorsiflexors of the foot. Severity in this disorder is highly variable. Approximately 95% of individuals with FSHD phenotype have type 1 FSHD, with D4Z4 allele of between one and ten repeat units and about 5% have type 2 FSHD with mutations in the chromatin modifier SMCHD1gene which causes the chromatin relaxation at D4Z4. We studied 49 Iranian patients with clinical findings of FSHD, and detected contraction of the D4Z4 repeats located at 4q35 in 40, confirming FSHD type I in 40.

In view of the fundamental role of genetics in development of obesity, the present study aimed to investigate the single nucleotide polymorphism of some obesity-related genes among a subset of obese women living in Tabriz, Iran. For this purpose, 70 eligible obese women (aged 18-45 years) were genotyped for the uncoupling protein-1 (UCP-1) -3826A>G, ß3-adrenergic receptor (ß3ADR) Trp64Arg, leptin G-2548A and adiponectin T>G polymorphisms. Accordingly, genomic DNA was isolated from whole blood samples using the conventional phenol chloroform extraction method and the single-nucleotide polymorphism of leptin, adiponectin (ADIPOQ), UCP-1 and ß3ADR genes were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The frequencies of GG, GA, and AA genotypes for leptin polymorphism G-2548A were found 20.0%, 51.4% and 28.6%, respectively. The genotype frequencies of TT, TG, and GG for adiponectin polymorphism T>G were found 67.1%, 27.1% and 5.7%, respectively. The genotype frequencies of AA, AG, and GG for UCP-1 polymorphism A-3826G were found 48.6%, 32.9% and 18.6%, respectively. Finally, the genotype frequencies of Trp64Trp, Trp64Arg, and Arg64Arg for ß3ADR gene were found 84.3%, 15.7%, and 0%, respectively. The genotype-allelic frequencies of ADIPOQ and ß3ADR genes were almost the same in different populations, while leptin and UCP-1 genes had different genotype distributions. Since the aforementioned genetic variations have important roles in development of obesity and also response to treatments like weight lowering diet, it is worth studying the genotype of every population before conducting any interventional program for the obesity management.

The environmental procarcinogen which are responcible for carcinogenesis, to form the proximate carcinogen, they require metabolic activation by drug metabolizing enzymes. The CYP3A subfamily enzymes play an important role in elimination of drugs. The substrates for CYP3A4 enzyme include drugs, and endogenous substances. Therefore, allelic changes in the coding regions of CYP3A4, increases the risk of developing cancers. CYP3A5 is expressed polymorphically in human liver, but consistently in lung, colon, and kidney.The purpose of this study was to analysis the frequency of alteration in CYP3A4 and CYP3A5 genes and to determine the role of their polymorphisms in bladder cancer patients. For this reason, 113 patients with bladder cancer and same number of healthy people as control were collected from Hashemi Nezhad Hospital, Tehran, Iran. DNA was extracted and investigated by PCR-RFLP method. Data analysis was performed using SPSS software (version 19). The results indicated that there was no significant association between CYP3A4*1B gene polymorphism and bladder cancer risk (OR=1.83, 95% CI=0.97-3.46, P=0.062). Also no association was found with individuals carrying the *3 genotype of CYP3A5 gene with bladder cancer in this study among studied population (OR=1. 28; 95% CI=0.68-2.41, P=0.42). No association was found between genotypes and grade and stage of disease with bladder cancer.

Brucellosis is a well-known infectious disease among domestic animals caused by Brucella bacterium. OMP25 is an outer membrane protein of Brucella which plays an important role in immunogenicity of cells. Moreover, Brucella Lumazine Synthase (BLS) as another main antigen can be used as an adjuvant when covalently attached to a foreign antigen. In the current study, designing and production of a chimeric construct as a primary step to stimulate the immune system against Brucella infection is investigated. The construct was amplified by specific primers using SOE-PCR technique. The amplified construct was cloned in pTZ57R/T vector and transformed into E. coli TOP10F’ as cloning host. Then, the construct was subcloned in pET-32a () vector followed by transforming into E. coli BL21 (DE3) as expression host. Our results demonstrated OMP25-BLS with 1163 bp was successfully cloned and expressed in the expression host. Results were confirmed using sequencing, SDS-PAGE and western blotting which correctly showed 59 KD protein band of OMP25-BLS. According to our results this construct could be proposed to investigate as a new subunit vaccine candidate in order to stimulate immune system against Brucellosis in future studies.

Clostridium perfringens (C. perfringens) is related to gram-positive and anaerobic bacteria. This rod-shaped bacterium produces spores and can cause a wide spectrum of diseases in humans and animals. Every of five different bacterium types can lead to different diseases. Most of distinct bacterial recognition methods are not completely effective and practical in all condition. The objective of this study was to isolate and identify different species of clostridium from the intestinal tract of broilers in Kerman province; southeastern of Iran using multiplex PCR. For doing this research, the intestinal tract samples were taken randomly from 122 broilers chickens. Samples were purveyed and cultured and then morphology of created colonies was checked and gram stain examination was performed. Genus identification of these bacteria was performed biochemical tests. Then DNA extraction from isolated bacteria was carried out and then multiplex PCR with specific primers was performed to classify toxin. Toxin types and bacterial strains were identified according to synthesized PCR fragments length. The only type of bacteria that isolated from intestinal tract of broilers was type A of C. perfringens. Our results indicated that C. perfringens type A is the most common type in intestinal tract of studied broiler population.

The present study investigated the calpain gene diversity in Iranian one-hump camels (120 camels) using PCR-RFLP method. Three genotypes AA, AG and GG were observed with the frequencies of 0.02, 0.19 and 0.78, respectively. The frequencies of A and G alleles were 0.12 and 0.88, respectively. The Chi-squared test didn’t show significant deviations from Hardy-Weinberg equilibrium (P

The Kermani sheep is an important meat producing animal in Iran and its economic efficiency is mainly dependent on its growth and reproduction ability. Inter Simple Sequence Repeat (ISSR) is the genome region between microsatellite loci. The aim of this study was to evaluate the association of two different ISSR markers with predicted breeding values (PBV) of body weight trait in Kermani sheep. Blood samples were obtained from 240 Kermani sheep. Polymerase chain reaction (PCR) was performed using two ISSR primers (GA)9C and (AG)9C. The amplified PCR fragment sizes ranged from 100 to 3100 bp and primers amplified 28 (A1 to A28) and 36 (G1 to G36) fragments, respectively. In addition, breeding values for birth weight, weaning weight (at 3 months of age) and body weight at 9 months of age for all Kermani sheep were predicted by univariate analysis of the animal mixed model. Associations of the loci with predicted breeding values of body weights were evaluated using a general linear model. Five polymorphic ISSR loci, G14, G25, A8, A20 and A26 had significant associations with PBVs of body weight (P

The κ-casein protein plays a fundamental role in milk production and its composition synthesis in mammary gland. This protein has an important role in the formation, stabilization and aggregation of the casein micelles. In this study, we investigated the genetic variability at the exon 4 of the κ-casein gene (also known as CSN3) using PCR-SSCP analysis and DNA sequencing. Then a protein sequence and structural analysis were performed in order to predict the possible impact of amino acid substitutions on physicochemical properties and structure of the κ-casein protein. Blood samples from 167 Iranian Mahabadi goats were collected DNA extracted and then the then 458bp fragment of the CSN3 gene was amplified using PCR-SSCP. Sequencing analysis showed that there were 8 single nucleotide polymorphisms (SNPs) in the CSN3 exon 4 (g.83C >T, g.85G >A, g.122A>G, g.147A>G, g.222G>A, g.309A>G, g.388T>C and g.429C>T). From the 8 identified polymorphic sites, six sites were non synonymous substitutions and the other two were synonymous substitutions. Also, association analysis showed that genotypes of the SNPs 1, 6, 7 and 8 were significantly associated with fat percentage in the analyzed population (P

Homeobox (HOX) genes are contributed in the genetic control of development of the body plan, pattern formation, and cell fate determination and the other several key developmental processes. HOX genes are also known as selector genes because expression within a given section of the embryo will cause its cells to choose a particular developmental path. HOX genes encode transcription factors that conduct embryological development as well as regulate differential endometrial gene expression with each menstrual cycle. HOX genes have been arranged in four clusters of A, B, C and D that each has parallel and overlapping expression domains. Among these clusters, HOXA cluster that is the main focus of this paper has an important role in regulating various processes in human body. In the present paper, the expression of HOXA9, HOXA10, HOXA11, and HOXA13 genes in the developmental processes related to the reproductive tract and the expression of HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6 and HOXA7 genes in the other sections of human body are highlighted.