Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

甲基汞神经毒性检测和评价效应指标--即刻早期基因研究

论述了甲基汞神经毒性研究现状，通过分析即刻早期基因（IEG）在甲基汞神经毒性机制中的作用，得出即刻早期基因能作为甲基汞神经毒性检测和评价的效应指标，同时也简要介绍即刻早期基因的研究方法，并指出利用基因芯片技术能够被步筛选出甲基汞对大鼠脑基因表达影响的相关基因。     

Effectiveness of Africa's tropical protected areas for maintaining forest cover

The effectiveness of parks for forest conservation is widely debated in Africa, where increasing human pressure, insufficient funding, and lack of management capacity frequently place significant demands on forests. Tropical forests house a substantial portion of the world's remaining biodiversity and are heavily affected by anthropogenic activity. We analyzed park effectiveness at the individual (224 parks) and national (23 countries) level across Africa by comparing the extent of forest loss (as a proxy for deforestation) inside parks to matched unprotected control sites. Although significant geographical variation existed among parks, the majority of African parks had significantly less forest loss within their boundaries (e.g., Mahale Park had 34 times less forest loss within its boundary) than control sites. Accessibility was a significant driver of forest loss. Relatively inaccessible areas had a higher probability (odds ratio >1, p < 0.001) of forest loss but only in ineffective parks, and relatively accessible areas had a higher probability of forest loss but only in effective parks. Smaller parks less effectively prevented forest loss inside park boundaries than larger parks (T = ?2.32, p < 0.05), and older parks less effectively prevented forest loss inside park boundaries than younger parks (F_2,154 = ?4.11, p < 0.001). Our analyses, the first individual and national assessment of park effectiveness across Africa, demonstrated the complexity of factors (such as geographical variation, accessibility, and park size and age) influencing the ability of a park to curb forest loss within its boundaries.     

Implications of Macroalgal Isolation by Distance for Networks of Marine Protected Areas

The global extent of macroalgal forests is declining, greatly affecting marine biodiversity at broad scales through the effects macroalgae have on ecosystem processes, habitat provision, and food web support. Networks of marine protected areas comprise one potential tool that may safeguard gene flow among macroalgal populations in the face of increasing population fragmentation caused by pollution, habitat modification, climate change, algal harvesting, trophic cascades, and other anthropogenic stressors. Optimal design of protected area networks requires knowledge of effective dispersal distances for a range of macroalgae. We conducted a global meta‐analysis based on data in the published literature to determine the generality of relation between genetic differentiation and geographic distance among macroalgal populations. We also examined whether spatial genetic variation differed significantly with respect to higher taxon, life history, and habitat characteristics. We found clear evidence of population isolation by distance across a multitude of macroalgal species. Genetic and geographic distance were positively correlated across 49 studies; a modal distance of 50–100 km maintained F_ST < 0.2. This relation was consistent for all algal divisions, life cycles, habitats, and molecular marker classes investigated. Incorporating knowledge of the spatial scales of gene flow into the design of marine protected area networks will help moderate anthropogenic increases in population isolation and inbreeding and contribute to the resilience of macroalgal forests. Implicaciones del Aislamiento por Distancia de Macroalgas para Redes de Áreas Marinas Protegidas     

Applications of Very High‐Resolution Imagery in the Study and Conservation of Large Predators in the Southern Ocean

The Southern Ocean is one of the most rapidly changing ecosystems on the planet due to the effects of climate change and commercial fishing for ecologically important krill and fish. Because sea ice loss is expected to be accompanied by declines in krill and fish predators, decoupling the effects of climate and anthropogenic changes on these predator populations is crucial for ecosystem‐based management of the Southern Ocean. We reviewed research published from 2007 to 2014 that incorporated very high‐resolution satellite imagery to assess distribution, abundance, and effects of climate and other anthropogenic changes on populations of predators in polar regions. Very high‐resolution imagery has been used to study 7 species of polar animals in 13 papers, many of which provide methods through which further research can be conducted. Use of very high‐resolution imagery in the Southern Ocean can provide a broader understanding of climate and anthropogenic forces on populations and inform management and conservation recommendations. We recommend that conservation biologists continue to integrate high‐resolution remote sensing into broad‐scale biodiversity and population studies in remote areas, where it can provide much needed detail. Aplicaciones de Imágenes de Muy Alta Resolución en el Estudio y Conservación de Grandes Depredadores en el Océano Antártico     

气溶胶中抗生素抗性基因研究进展:以养殖场和医院为例

抗生素在医药和养殖业的大量使用导致耐药菌的出现,加速了抗生素抗性基因(antibiotic resistance genes,ARGs)在不同环境介质中的传播扩散,抗生素耐药性已成为目前全球卫生、食品安全和发展的最大威胁之一。气溶胶作为ARGs的潜在储存库缺乏系统的研究数据,而通过空气传播具有较高抗生素抗性水平的细菌可能是引起重要疾病的主要传播途径。本文针对养殖场和医院2个抗生素大量使用的典型场所,对气溶胶中ARGs的污染现状、样品采集与检测技术进行综述,并探讨了这一环境污染的潜在风险,表明开展气溶胶中ARGs研究的必要性,并为以后需开展的工作提出几点建议。     

石油污染土壤的生物修复技术及微生物生态效应

利用投菌法和生物刺激法对陕北子长石油污染土壤进行微生物修复研究.通过利用红外分光光度法测定不同处理方法对石油烃的去除效果确定了修复陕北石油污染土壤的最佳方案.修复过程中利用最大可能计数法(MPN)、PCR-琼脂糖电泳法、PCR-DGGE法分别测定了石油烃降解菌数目、催化基因、土壤微生物多样性对土壤微生物生态效应进行研究.结果发现石油污染土壤不同生物处理修复效果为:生物刺激(加入N、P营养物质)生物强化(投加降解菌)其他.土壤中石油烃降解率与可降解石油烃的催化基因含量之间存在正相关关系,修复过程中土壤中的石油烃和烷烃降解菌数量显著多于多环芳烃降解菌数量,投加外源降解菌SZ-1可以显著提高土壤细菌群落的多样性.研究结果有助于深入理解生物修复石油土壤过程中的微生物生态效应变化.     

Amoxicillin effects on functional microbial community and spread of antibiotic resistance genes in amoxicillin manufacture wastewater treatment system

This study aimed to reveal how amoxicillin(AMX) affected the microbial community and the spread mechanism of antibiotic resistance genes(ARGs) in the AMX manufacture wastewater treatment system. For this purpose, a 1.47 L expanded granular sludge bed(EGSB) reactor was designed and run for 241 days treating artificial AMX manufacture wastewater. 454 pyrosequencing was applied to analyze functional microorganisms in the system. The antibiotic genes OXA_(-1), OXA_(-2), OXA_(-10), TEM_(-1), CTX-M_(-1), class I integrons(intI1) and 16 SrRNA genes were also examined in sludge samples. The results showed that the genera Ignavibacterium, Phocoenobacter,Spirochaeta, Aminobacterium and Cloacibacillus contributed to the degradation of different organic compounds(such as various sugars and amines). And the relative quantification of eachβ-lactam resistance gene in the study was changed with the increasing of AMX concentration.Furthermore the vertical gene transfer was the main driver for the spread of ARGs rather than horizontal transfer pathways in the system.     

玉门油田污染荒漠土壤石油降解菌多样性

为探索石油污染荒漠土壤石油降解微生物多样性、筛选高效石油降解菌,采用涂布平板法从石油污染荒漠土壤分离具有石油降解能力细菌,采用细菌形态观察和16S rRNA基因序列分析其多样性,并设计特异性引物,对分离细菌降解相关基因进行检测.结果表明,分离的37株细菌分别属于放线菌纲(Actinobacteria)、γ变形菌纲(Gammaproteobacteria)、β变形菌纲(Betaproteobacteria)、芽孢杆菌纲(Bacilli)和α变形菌纲(Alphaproteobacteria),分别占35.14%、32.43%、13.51%、13.51%、5.41%,归属于21个属的34个种类.优势菌属为假单胞菌属(Pseudomonas)、红球菌属(Rhodococcus)、微球菌属(Micrococcus)、寡养单胞菌属(Stenotrophomonas)、无色杆菌属(Achromobacter)和葡萄球菌属(Staphylococcus),占总数的51.35%,其中有36株细菌能以石油为唯一碳源稳定生长,对原油有明显的降解能力.在石油质量浓度为1 500 mg/L的基础培养基中,菌株YM43在培养7 d后对石油的降解率达55.47%,另有8株细菌的降解率不低于30.55%,11株细菌的降解率介于10.05%~28.37%,18株细菌的降解率不高于8.05%. PCR检测表明,有25株细菌含有烷烃单加氧酶基因,6株含芳烃双加氧酶基因,6株含联苯双加氧酶基因,4株含萘双加氧酶基因,3株含甲苯双加氧酶基因,2株含邻苯二酚双加氧酶基因.研究显示,石油污染荒漠土壤中可培养细菌具有高度多样性,分离的菌株有较强的石油降解能力,其降解功能与所存在的降解基因有关.      

北京地区菜田土壤抗生素抗性基因的分布特征

为研究北京地区菜田土壤抗生素抗性基因(antibiotic resistance genes,ARGs)的污染状况和分布特征,采集了11个长期施用粪肥蔬菜基地的温室土壤和大田土壤,进行了抗生素以及ARGs种类和丰度的检测.结果表明,菜田土壤中四环素类抗生素残留量最高,其次为磺胺类抗生素,温室土壤抗生素残留普遍高于大田土壤.温室和大田土壤磺胺类抗性基因sul1、sul2和四环素类抗性基因tet L的检出率均为100%.温室土壤的Ⅰ类整合子(int I1)检出率比大田土壤高1.5倍.定量PCR的检测结果表明,菜田土壤中sul2和tet L的相对丰度介于10-4~10-2之间,温室土壤sul2和tet L的相对丰度普遍高于大田土壤.sul2的相对丰度与磺胺二甲嘧啶和强力霉素的含量显著正相关(P0.05),tet L相对丰度与抗生素含量无明显相关性(P0.05).本研究结果对于掌握北京地区农田土壤ARGs的污染现状,以及从ARGs角度评估农艺措施具有重要的指导意义.