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.     

四环素胁迫对Shigella flexneri细菌四环素抗性基因抗性表达的影响过程

四环素(TC)抗生素在不同环境介质中已被广泛检出,为研究其对四环素抗性基因(TC-ARGs)丰度变化及表达水平的影响过程,以从活性污泥中筛选和纯化分离获得的弗氏志贺氏菌(Shigella flexneri)为研究对象,考察了不同浓度TC对其生长过程的作用影响,采用荧光定量PCR和逆转录PCR方法定量检测了不同抗性机制TC-ARGs,包括tetC、tetO和tetX基因的丰度变化及表达水平,并探讨了TC浓度与TC-ARGs丰度及其表达水平之间的相关关系.结果表明,在培养周期内(24 h),TC胁迫对Shigella flexneri细菌的生长具有抑制作用,细菌细胞浓度增长速率随TC暴露浓度的升高而降低,但对TC-ARGs丰度变化影响较小.TC胁迫能够促进Shigella flexneri细菌TC-ARGs的转录表达,tetC、tetO和tetX基因表达水平在整个培养周期内均先升高后降低.由相关性分析可知,TC浓度与TC-ARGs丰度及其表达水平之间相关关系不显著,但tetC和tetO基因丰度与其转录表达水平之间存在显著的正相关关系,表明其基因丰度一定程度上可用来衡量和评价其抗性表达水平.     

监测分析中结果的表达─兼谈环境监测标准化

对环境监测中的数据、统计、有效数字、修约，以及计量单位、结果表达、原始数据的记录等既平常又十分重要易被忽略的重要问题作了概述，这些问题的解决才能保证监测结果的准确性和可靠性．     

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。     

镉铅对小麦醇脱氢酶(ADH)基因表达影响的初步研究

经过镉，铅４５ｈ污染处理，运用Ｎｏｒｔｈｅｉｎ斑点杂分析和酶活性测定的方法探测萌发期小麦ＡＤＨ酶基因的表达情况。实验结果表明，ＡＤＨ基因表达在ＲＮＡ和酶活性两个层次均有变化，并且呈现相似的变化趋势，反映得金属的影响是来源于基因转录水平。     

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     

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.