RESUMO
HLA-G is a nonclassical Class I major histocompatibility complex (MHC) gene. This gene has a limited protein alteration that is produced by alternative splicing and can be important in the preservation of pregnancy. Recent findings suggest that alteration in HLA-G gene expression can lead to pregnancy failure, such as recurrent pregnancy loss (RPL). As the promoter SNPs of the gene may impact the HLA-G expression levels, the study of these SNPs is very important. In this study, for the promoter region of HLA-G gene in the case group (100 women with a history of two or more repeated miscarriages) and the control group (100 women with at least two successful pregnancies), PCR reaction was performed. Thereafter, PCR products were sequenced and the results were compared between the two groups. The results showed that -1573T>C and -1746C>A SNPs in the promoter of the HLA-G gene associated with RPL. The outcome of the haplotype analysis also showed that the association of two haplotypes, including H1 (ATCCAGGTACGCAA) and H2 (CTTCGAGAACGCAG) with RPL, is significant. The results showed that H1 is associated with a decreased and H2 is associated with an increased risk of RPL. These results indicate the importance of the HLA-G promoter SNPs in the pregnancy outcome. But to reach a more definite conclusion, subsequent studies on 3' UTR and other positions with polymorphism in the 5' UTR regions larger samples are necessary.
Assuntos
Aborto Espontâneo/genética , Antígenos HLA-G/genética , Haplótipos , Polimorfismo de Nucleotídeo Único , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Aborto Espontâneo/metabolismo , Adulto , Feminino , Regulação da Expressão Gênica , Antígenos HLA-G/biossíntese , Humanos , GravidezRESUMO
Coronary artery disease (CAD) is the leading cause of cardiovascular mortality worldwide. Genome-wide association studies have discovered several variants associated with CAD. Notably, a recent study has identified UBE2Z rs46522 at 17q21.32 as a CAD-susceptibility variant in Europeans. However, association of this locus with CAD in non-Europeans has not been investigated. Herein, we evaluated the contribution of rs46522 and a variant in high linkage disequilibrium in UBE2Z 3'-UTR (rs1057897) to the CAD susceptibility by performing association study in an Iranian population. This study recruited 300 angiographically-confirmed CAD patients and 300 asymptomatic controls. Genotypes were determined by TaqMan genotyping assay. Multivariate logistic regression analysis revealed that rs46522 was associated with the susceptibility to CAD assuming codominant [TT vs. CC: 2.68 (1.36-5.31), P: 1.1717e-2], dominant [CT+TT vs. CC: 1.74 (1.12-2.69), P: 1.2675e-2], recessive [TT vs. CC+CT: 2.12 (1.13-3.98), P: 1.9369e-2] and log-additive [1.61 (1.17-2.21), P: 2.967e-3] models. However, no association was observed for rs1057897 under any genetic models. In conclusion, we provide the first evidence for association of rs46522 with the susceptibility to CAD in an Iranian population and discussed about regulatory potential and functional role of the studied variants to provide clues for its association with CAD and promote further research.
Assuntos
Doença da Artéria Coronariana/genética , Polimorfismo de Nucleotídeo Único , Enzimas de Conjugação de Ubiquitina/genética , Regiões 3' não Traduzidas , Idoso , Estudos de Casos e Controles , Doença da Artéria Coronariana/etiologia , Feminino , Predisposição Genética para Doença , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Modelos GenéticosRESUMO
Nuclear receptor subfamily 5 group A member 1 (NR5A1) encodes a nuclear receptor that regulates transcription of multiple genes involved in adrenal and gonadal development, steroidogenesis and the reproductive axis. Human mutations in NR5A1were initially found in two 46, XY female patients suffering from severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in NR5A1 may also contribute to the male infertility aetiology. We have analysed the coding sequence of NR5A1 in a cohort of 90 well-characterised idiopathic Iranian azoospermic infertile men versus 112 fertile men. Heterozygous NR5A1 mutations were found in 2 of 90 (2.2%) of cases. These two patients harboured missense mutations within the hinge region (p.P97T) and ligand-binding domain (p.E237K) of the NR5A1 protein. In silico analysis of the mutations showed that founded mutations could be detrimental. In conclusion, findings of the current and previous studies suggest that mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary.
Assuntos
Azoospermia/genética , Mutação de Sentido Incorreto , Fator Esteroidogênico 1/genética , Adulto , Análise Mutacional de DNA , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Slurry acidification has been shown to be effective in reducing environmentally damaging gases. However, this involved the use of concentrated acids on farms. Therefore, due to the health and safety concerns, there is an interest in self-acidification of slurry technique. This study was designed to determine the microbial dynamics leading to self-acidification of slurry. A fresh cattle slurry was amended 10% brewing sugar and stored over 30 days. This fermentable carbon source promoted self-acidification of the slurry from pH 7.0 to 4.7 within four days, and was associated with the accumulation of lactic acid and a reduction in methane and relative ammonia emissions. A metagenomics approach through next generation sequencing (NGS) using an Illumina MiSeq platform was used to determine the microbial diversity and dynamics (bacteria and archaea) in the stored amended slurry. 16S ribosomal ribonucleic acid (rRNA) sequence data revealed the presence of the Order of Lactobacillales was associated with the lactic acid production. The operational taxonomic units (OTUs) abundance indicates that the methanogenic community was dominated by hydrogenotrophic methanogens from the member Order of Methanobacteriales, Methanomicrobiales, and Methanosarcinales. The decrease in tolerance by the methanogens in the self-acidified slurry was probably the main reason for the reduced methane emission. These results confirm, at the microbial level, the mechanism of inhibiting methane production via self-acidification during storage period.
Assuntos
Esterco , Metano , Amônia/análise , Animais , Archaea , Bovinos , Concentração de Íons de Hidrogênio , RNA Ribossômico 16S/genéticaRESUMO
Serious outbreaks of haemorrhagic tracheitis in poultry induced by infectious laryngo-tracheitis virus (ILTV) have been recorded in Egypt for the first time. The disease occurred in different localities during late 1982 and early 1983. The associated drop in egg production ranged between 5% and 35% and there was a mortality rate which ranged from 0.05% to 19.8%. The causal virus was isolated on the chorioallantoic membrane (CAM) of developing chicken embryos where it induced large yellowish-white pock lesions, 3-4 mm in diameter, by the fifth or sixth day post-inoculation. It was non-lethal to the inoculated embryos. It grew also with cytopathic effect (CPE) on the CER cell line. The CPE was characterized by syncytial formation and intranuclear inclusions. Chickens experimentally inoculated with the virus developed respiratory signs and 14 of 20 birds died with subsequent virus re-isolation. The isolated virus was unable to agglutinate chicken red cells and it was precipitated and partially neutralized by reference serum to ILTV. Viral antigen was detected by the indirect fluorescent antibody technique in tracheal smears obtained from naturally and experimentally infected birds. This is the first report of the isolation of ILTV in Egypt.
Assuntos
Galinhas , Surtos de Doenças/veterinária , Infecções por Herpesviridae/veterinária , Herpesviridae/isolamento & purificação , Herpesvirus Galináceo 1/isolamento & purificação , Doenças das Aves Domésticas/epidemiologia , Animais , Antígenos Virais/análise , Egito , Imunofluorescência , Testes de Hemaglutinação/veterinária , Infecções por Herpesviridae/epidemiologia , Herpesvirus Galináceo 1/classificação , Testes de Neutralização , Testes de Precipitina/veterináriaRESUMO
Day-old chicks were susceptible to pigeon herpes encephalomyelitis virus (PHEV) by intracerebral (i/c) inoculation. Infected birds developed neurologic signs starting from 2 to 15 days post-infection, and 85% died. The virus was recovered from the brains of diseased chicks in titers ranging between 104 and 105.5 EID 50/0.2 ml. Inoculated birds shed the virus in their droppings throughout the 2 weeks observation period. Day-old chicks given the virus by the intranasal (i/n) or oral routes did not develop any specific signs but shed the virus also in their droppings throughout the observation period. Ducklings and goslings inoculated intravenously (i/v), i/n or orally were resistant. Day-old chicks and ducklings, goslings and quails inoculated by different routes with pigeon herpesvirus (PHV) did not show respiratory or nervous signs.
Assuntos
Galinhas/imunologia , Patos/imunologia , Gansos/imunologia , Infecções por Herpesviridae/veterinária , Herpesviridae/patogenicidade , Doenças das Aves Domésticas/imunologia , Codorniz/imunologia , Animais , Columbidae/microbiologia , Suscetibilidade a Doenças , Egito , Infecções por Herpesviridae/imunologia , Especificidade da EspécieRESUMO
Childhood Hepatitis B virus (HBV) infection causes both medical and public health challenges. Infants who acquire HBV parentally have up to 90% risk of developing chronic HBV infection. It is now estimated that approximately 10% of worldwide cancers are attributable to viral infection, with the vast majority (>85 %) occurring in the developing world. In this distribution, elevated rate and prevalence of HBV marker have been found in patients with malignancies as compared to the general population. By reviewing the web-based search for all Persian and English types of scientific peer review published articles initiated using Iran Medex, MEDLINE/PubMed, CINAHL and other pertinent references on websites about HBV and HCV blood disorders. The high prevalence of HBV and HCV infective markers was detected in patients with different malignancies. Moreover, identification of high prevalence of HBV infective markers in leukemia patients proposed strong association between hepatitis viral infections and leukemia.