Relation between apel gene -141t>g polymorphism and idiopathic male infertility

Background: Infertility is defined as a lack of conception in a coupIe having unprotectes intercourse, for one year. Despite enormous progresses in the understanding of human reproductive physiology, the underlying causes of male infertility remains undefined in about 50.0% of cases, which are referred to as idiopathic infertility

Human apurinic/apyrimidinic endonuclease [ApEl] is a multifunctional protein that has an important role in the base excision repair [BER] pathway. ApEl -141 T>G polymorphism is located in the promoter region

The aim of this study was to investigate the relation between ApEl -141T>G polymorphism and idiopathic male infertility

Methods: hi this case-control study, Samples were collected from 90 patients diagnosed with idiopathic male infertility and also from 60 control subjects. Collected samples were genotyped by allele-specific PCR [AS-PCR]

Results: There was significantly association between -141TX/] polymorphism and idiopathic male infertility [p=0.022]

Conclusion: The polymorphism 141T>G can be associated with male infertility. However, further studies are needed to confirm the results

[Association of HLA-G INDEL polymorphism with systemic lupus erythematosus [SLE] in Guilan Province, in Iran]

Background and Aim: Systemic lupus erythematosus [SLE] is an autoimmune disease that is characterized by the presence of autoantibodies against nuclear antigens. The exact cause of SLE is unknown, but some of these genes are active in the key pathways, including immune complexes, host immune signal transduction, and interferon pathways which have significant roles in the pathogenesis of SLE. Since the classical HLA class I and II molecules are highly involved in the peptide presentation to the components of immune system, the genes that encode these molecules can be primary candidates associated with susceptibility to autoimmune disorders. HLA-G belongs to the family of non-classical HLA class I antigens. The purpose of this study was to evaluate the association of INDEL polymorphism of the 3'UTR region of HLA-G gene with SLE

Material and Methods: In this study, 80 patients with SLE, and 102 healthy individuals were examined. Genomic DNA was extracted from peripheral blood. The genotypes were determined using ARMS-PCR. Data analysis was performed using MedCalc version 12.1

Results: The frequencies of homozygot genotypes for the presence of [+14bp/+14bp]14bp, hetrozygot genotypes for [-14bp/+14bp], and homozygot genotypes with deletion of [-14bp/-14bp]14bp segments in the healthy individuals were 21.57%, 41.18% and 37.25%, and in the patients were 17.5%, 42.5% and 40% respectively. The most frequent genotype in the healthy individuals and hetrozygot patients was [-14bp/+14bp]. We found no statistically significant differences in the genotype distributions between the cases and controls [and Rho;>0.05]

Conclusion: In this study INDEL polymorphism of the 3UTR region of HLA-G gene showed no association with systemic lupus erythematosus. However, further studies are required to confirm the validity of these results

Prevalence of class 1 integrons and extended spectrum beta lactamases among multi-drug resistant Escherichia coli isolates from north of Iran

Extended spectrum beta lactamases [ESBLs] are an important cause of transferable multidrug resistance [MDR] in gram-negative bacteria. The most described ESBL genes are generally found within integron like structures as mobile genetic elements. The aim of this study was to identify the accompanying of class 1 integrons and ESBLs in the MDR E. coli isolates. Susceptibility to antimicrobial agents was determined for 33 E. coli strains by the disk diffusion method. Double-disk synergy test was applied for screening ESBL. To identify the strains carrying integrons, the conserved regions of integron-encoded integrase gene intI1 were amplified. For detection of gene cassettes, 5'CS and 3'CS primers were used. All E. coli isolates were identified as multi-drug resistant. More than 50% of the isolates were resistant to tetracycline, cephalothin, cefuroxime, amoxicillin-clavulanic acid, and third generation cephalosporines. Nearly all of the isolates displayed sensitivity to piperacillin. There was a significant correlation between production of ESBL and resistance to all antibiotics except for ciprofloxacin and piperacillin [P < 0.01]. Thirty two MDR strains [97%] included class 1 integron, and some isolates that included integrons were similar in the size of gene cassettes. The isolates were different in the resistance profiles; however, some others had similar resistance profiles. Of eight ESBL positive isolates, seven [87.5%] carried class 1 integrons. Class 1 integrons were frequent in MDR and also ESBL-producing E. coli isolates. High prevalence of class 1 integrons confirms that integron-mediated antimicrobial gene cassettes are important in E. coli resistance profile

[Functional assessment of mitochondrial DNA 4977 bp deletion in peptic ulcer disease]

Background and Aim: A peptic ulcer is a breach in the gastric or duodenal mucosa down to the submucosa. There is evidence concerning the role of Reactive Oxygen Species [ROS] in the genesis of such ulcers production of intracellular ROS along mitochondria oxidative phosphorylation [OXPHOS] predisposes the deletion of 4977 bp mtDNA. The aim of the present study was to evaluate the association of 4977 bp mtDNA deletion with peptic ulcer disease

Materials and Methods: In this case-control study included 110 patients with peptic ulcer disease and 110 healthy individuals were compared. Genomic DNAs of the cases and controls were extracted from bioptic tissues. Then, their genotypes were determined by means of Polymerase Chain Reaction [PCR]. Finally, statistical analysis was performed using the MedCalc program

Results: Deletion of 4977 bp mtDNA was found to be more frequent among patients with peptic ulcer disease [52.7%] compared to the controls [15.3%]. A significant association was found between the deletion with peptic ulcer disease

Conclusion: Deletion of 4977 bp in mitochondrial DNA is associated with peptic ulcer disease

Analysis of aromatase [CYP19] gene in Iranian women with endometriosis

Endometriosis is a chronic, inflammatory, estrogen dependent disease that affects up to 10% of all women of fertile age. It is characterized by the presence and proliferation of functional endometrial glands and stroma outside the uterine cavity. The aim of this study was to assess whether intron 4 [TTTA]n repeat and TCT deletion/insertion polymorphisms of CYP19 gene are associated with endometriosis in northern Iran. This study involved 110 patients with endometriosis and 200 healthy controls, who were genotyped for [TTTA] repeats in the fourth intron of the CYP19 gene. Genomic DNA from patients and controls was genotyped by polymerase chain reaction [PCR]. A total of eight alleles were observed in our study population, ranging from 7 repeats to 13 repeats. [TTTA] repeat lengths of /=10 were classified as long [L]. Compared to women who possessed the S/S genotype, those who carried L/L [OR, 5.56; 95% CI, 3.33-9.29] had significantly increased risk of endometriosis. There was a significant trend between L/L genotype and higher stage of endometriosis [P < 0.001]. In conclusion, a significant association was identified between endometriosis and the CYP19 gene polymorphism, with endometriosis having longer CYP19 repeat lengths than control subjects. The strong association of CYP19 gene polymorphism with high-stage endometriosis suggests that CYP19 may have a prognostic implication

Association of 757 C/T polymorphismin PRODH gene with Schizophrenia in Iranian population

Evidence is emerging for the association of polymorphisms in PRODH gene and increased risk of schizophrenia. In this project, peripheral blood sampling was obtained from 175 schizophrenia patients that their diseases were confirmed by psychiatrists. 185 healthy individuals were considered as control group. The related tests were administered on the basis of PCR-RFLP. In the continuation, statistical analysis was made on the basis of obtained genotypes from two groups of healthy and patient groups using SPSS16.0 software. The administration of this project aims at investigating the hypothesis that proline dehydrogenase gene, as one of the most important genes involved in schizophrenia incidence which is proved in various populations [outside Iran], may also be involved in incidence of schizophrenia in Iran. This study has analyzed one single nucleotide polymorphism in the PRODH gene, including 757C/T in the incidence of this disease in the given statistical population. According to our results, SNP 757 C/T may be effective in incidence of the disease since P value was < 0.01. Ultimately, our results suggest that outbreak of mutation in PRODH gene in our population can be one of causes of increasing risk of Schizophrenia in this population

Cerebrospinal fluid nerve growth factor levels in patients with alzheimer's disease

Alzheimer's disease [AD] is the most common cause of dementia in Western countries and in Japan. Numerous blood and cerebrospinal fluid [CSF] tests based on the disease pathology have been proposed for early detection of AD. By comparing the CSF proteome of AD patients and controls it might be possible to identify proteins that play a role in the disease process and thus study the pathogenesis of AD. Samples of CSF from normal [n=20] and AD patients [n=20] were collected by lumbar puncture. The total concentration of proteins in the CSF of normal subjects and AD patients was determined by Bio-Rad protein assay based on the Bradford dye binding procedure. The presence and level of NGF in the CSF of normal and AD patients was measured by enzyme-linked immunosorbent assay [ELISA], SDS-PAGE and western blot. The total protein concentration of all samples was within the normal range [0.10-0.44 g/L]. A western blot analysis using anti-NGF antibody showed the presence of NGF in human CSF. By ELISA, the level of NGF in the CSF of AD patients was higher than in the CSF of normal subjects [81.5 +/- 15.03 pg/mL vs. 4.2 +/- 1.92 pg/mL, P<0.0001]. We suggest that the NGF level in the CSF may provide additional information in the differential diagnosis of Alzheimer's disease. We also conclude that NGF could be significantly involved in the pathophysiology of AD