Genetic variability and evidence of founder effect in Hemiodus orthonops (Characiformes: Hemiodontidae) from the upper Paraná River basin, Brazil / Variabilidade genética e evidência do efeito do fundador em Hemiodus orthonops (Characiformes: Hemiodontidae) da bacia do alto rio Paraná, Brasil

Hemiodus orthonops is a small fish of the Hemiodontidae family, order Characiformes, with a maximum of 25 cm standard length. Until recently, H. orthonops was an endemic species from the Paraná-Paraguay basin and it was absent from the upper Paraná River basin. Since 2008, it has started to be collected in the upper Paraná River, representing up to 10% of catches. Two population samples of H. orthonops from two localities of the upper Parana River basin (Porto Camargo and Porto Figueira) were analyzed using the allozymes electrophoresis technique. Twenty-one enzymatic loci were detected. The population sample from Porto Camargo displayed a genetic variability (He = 0.1061) higher than that from Porto Figueira (He = 0.0580) and homozygote excess in both of them. The FST value (0.2081) indicated genetic structure. The excess of homozygotes in both samples was probably due to founder effect in the population.

Hemiodus orthonops é um pequeno peixe da família Hemiodontidade da Ordem Characiformes com um comprimento padrão máximo de 25 cm. Até recentemente, H. orthonops estava ausente da bacia do alto rio Paraná. Desde 2008 ele passou a ser coletado na bacia do alto rio Paraná, representando até 10% das coletas. Duas amostras populacionais de H. orthonops provenientes de duas localidades da bacia do alto rio Paraná (Porto Camargo e Porto Figueira) foram analisadas pela técnica de eletroforese de aloenzimas. Vinte um loci enzimáticos foram detectados. A amostra proveniente de Porto Camargo revelou uma variabilidade genética (He = 0,1017) superior à amostra de Porto Figueira (He = 0,0558) e excesso de homozigotos em ambas as amostras. O valor de F ST entre elas (0,2081) indica que há estruturação genética. O excesso de homozigotos nas duas amostras é provavelmente devido ao efeito do fundador.

A Polymorphism in the Microsomal Triglyceride Transfer Protein Can Predict the Response to Antiviral Therapy in Egyptian Patients with Chronic Hepatitis C Virus Genotype 4 Infection

BACKGROUND/AIMS: A polymorphism in the microsomal triglyceride transfer protein (MTP) is associated with hepatic fibrosis, and carriers showed higher levels of steatosis, higher levels of hepatitis C virus (HCV) RNA and advanced fibrosis. The aim of this study was to study MTP expression pattern in HCV patients and impact of the MTP polymorphism on the response to antiviral therapy. METHODS: One hundred consecutive naive HCV genotype 4 patients were recruited to receive antiviral therapy, and 40 control subjects were also recruited. Demographic, laboratory, and histopathology data were collected. DNA was isolated, and the samples were subjected to polymerase chain reaction analysis and genotyping for MTP by restriction fragment length polymorphism analysis. RESULTS: Patients and controls were age- and sex-matched (male/female, 56/44, age, 39.2+/-7.8 years for patients with HCV; male/female, 18/22, age, 38.1+/-8.1 years for controls). MTP single nucleotide polymorphisms (SNPs) (GG, GT, TT) and alleles (G, T) in the patients versus the controls were 70%, 21%, 9% & 80.5%, 19.5% versus 10%, 87.5%, 2.5% & 53.8%, 46.3%, respectively (p=0.0001). The sustained viral response (SVR) of the patients was 60%. SNPs in MTP genotypes (GG, GT, and TT) and alleles (G and T) in the responders and nonresponders were 71.7%, 25%, 3.3% & 84.2%, 15.8% versus 67.5%, 15%, 17.5% & 75%, 25% (p=0.038 and p=0.109, respectively). A multivariate analysis showed that the GT genotype was an independent predictor of SVR (area under the curve 90% and p=0.0001). CONCLUSIONS: MTP could be a new predictor for SVR to antiviral therapy in patients with HCV genotype 4 infection.

Polymorphisms of Surfactant Protein Genes and Chronic Obstructive Pulmonary Disease Risk: A Meta- analysis / 中国康复理论与实践

@#Objective To evaluate the relationship between polymorphisms in surfactant protein (SP) genes and susceptibility to chronic obstructive pulmonary disease (COPD). Methods An extensive literature search for relevant studies was conducted in databases of Wanfang Data, VIP, Google Scholar, PubMed, CNKI, CBM, EMBASE and Web of Science and so on from inception to Sep., 2013. A meta-analysis was then performed using Stata 12.0 software. Results 7 case-control studies were included with a total of 1,279 COPD cases and 1,482 healthy controls. This meta-analysis revealed that polymorphisms of the SP-A gene might be associated with an increased risk of COPD (allele model: OR=1.53, 95%CI: 1.14~2.05, P=0.005; dominant model: OR=1.65, 95%CI: 1.02~2.69, P=0.043; recessive model: OR=1.66,95%CI: 1.17~2.35, P=0.005: homozygous model: OR=2.06, 95%CI: 1.24~3.41, P=0.005; eterozygous model: OR =1.59, 95%CI: 1.13~2.22, P=0.007; respectively). However, there was no evidence for any association between polymorphisms of the SP-B and SP-D genes and COPD risk (all P>0.05). Further subgroup analysis by ethnicity suggested that SP-A genetic polymorphisms were associated with an increased risk of COPD among Asians, but not among Caucasians. Conclusion SP-A genetic polymorphisms may contribute to increasing susceptibility to COPD, especially among Asians.

Study of Chlamydial Urogenital Infection and MOMP Gene Variants in Child- bearing Women in Beijing / 中华皮肤科杂志

Objective To investigate Chlamydia trachomatis infection and gene variants in child- bearing women in Beijing. Methods Endocervical samples were collected from 177 patients in a family planning clinic and a gynecologic clinic. C.trachomatis infection was screened with a fast diagnostic kit .Major outer membrane protein(MOMP) gene was amplified by a nested PCR . A 1.1kb amplified product was obtained and studied by restriction fragment length polymorphism analysis(RFLP). Variant domains of MOMP gene VS1,VS2,VS3,VS4 were sequenced with 373A automated sequencing system. Results C. trachomatis was found in 9 of 177 samples. Four samples were identified as F genotype, 3 E genotype and 2 D genotype. Variant domains of MOMP gene, VS1, VS2, VS3, VS4 were sequenced and the results were consistent with those of RFLP, however, mutations were found in MOMP gene in 4 samples. Conclusion C.trachomatis urogenital infection has been identified in a portion of child- bearing women in Beijing. C.trachomatis can be well genotyped with RFLP or gene sequencing of MOMP gene.

Polymorphism of the Bacillus anthracis BclA Protein / 微生物学通报

Bacillus anthracis collagen-like protein(BclA) is a structural component of the exosporium filaments,as well as the immunodominant antigen on the spore surface.The genes encoding BclA proteins were cloned and sequenced from three Bacillus anthracis strains separated from China.It was founded that the BclA proteins of strain A16R and 40048,containing 388 and 322 amino acids,72 and 50 copies of GXX repeat,5 and 3 copies of 21-amino-acid sequence(GPT)_(5)GDTGTT(BclA repeat) respectively,are different from those reported by foreign scholars;while the BclA protein of strain 40022,containing 370 amino acids,66 copies of GXX repeat,and 5 copies of BclA repeat,is identical with that of strain 53169 reported by others.The results are helpful for the molecular typing of B.anthracis strains,and provide a basis for the elucidation of the pathogenesis and immunogenicity of B.anthracis spore.