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1.
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.  相似文献   
2.
The ongoing development of microbial source tracking has made it possible to identify contamination sources with varying accuracy, depending on the method used. The purpose of this study was to test the efficiency of the antibiotic resistance analysis (ARA) method under low resistance by tracking the fecal sources at Turkey Creek, Oklahoma exhibiting this condition. The resistance patterns of 772 water-isolates, tested with nine antibiotics, were analyzed by discriminant analysis (DA) utilizing a five-source library containing 2250 isolates. The library passed various representativeness tests; however, two of the pulled-sample tests suggested insufficient sampling. The resubstitution test of the library individual sources showed significant isolate misclassification with an average rate of correct classification (ARCC) of 58%. These misclassifications were explained by low antibiotic resistance (Wilcoxon test P < 0.0001). Seasonal DA of stream E. coli isolates for the pooled sources human/livestock/deer indicated that in fall, the human source dominated (P < 0.0001) at a rate of 56%, and that human and livestock respective contributions in winter (35 and 39%), spring (43 and 40%), and summer (37 and 35%) were similar. Deer scored lower (17–28%) than human and livestock at every season. The DA was revised using results from a misclassification analysis to provide a perspective of the effect caused by low antibiotic resistance and a more realistic determination of the fecal source rates at Turkey Creek. The revision increased livestock rates by 13–14% (0.04 ≤ P ≤ 0.06), and decreased human and deer by 6–7%. Negative misclassification into livestock was significant (0.04 ≤ P ≤ 0.06). Low antibiotic resistance showed the greatest effect in this category.  相似文献   
3.
油气集输管道内防腐技术应用进展   总被引:1,自引:1,他引:0       下载免费PDF全文
针对油气田集输管道的内腐蚀问题,分别介绍了耐蚀材料、衬里技术、涂镀层技术与药剂防腐技术等管道内防腐技术及其现场应用效果,指出了耐蚀金属材料防腐效果显著,但存在经济效益差的缺点。为降低成本,选用双金属复合管替代耐蚀金属材料,但其焊缝位置腐蚀失效频发,成为制约其应用的薄弱环节。耐蚀非金属材料防腐效果显著,但耐高温性能与力学性能较差,受温度、压力与CO_2、H_2S、固体颗粒等介质成分的影响,衬里技术与涂镀层技术的应用范围受到限制。药剂防腐技术的防护效果与药剂类型、加药工艺密切相关,需要根据腐蚀工况监测结果进行实时调整。针对上述内防腐技术存在的问题,提出了未来内防腐技术的发展方向为改进现有内防腐技术存在的不足,提升其防护效果。同时,应开发防腐效果显著、经济成本低、施工简便、易于推广应用的防腐材料与防腐工艺技术。  相似文献   
4.
介绍了喷射沉积耐热铝合金管坯经挤压变形 ,变薄旋压筒体的研制过程 ;重点论述了热旋成形筒体的工艺路线。试验探讨了耐热铝合金的旋压温度为 35 0~ 45 0℃ ,道次变薄率约为2 0 % ,累计变薄率约 5 0 % ,需中间退火 ,退火温度宜取 35 0℃。热旋结果认为 ,喷射沉积耐热粉末铝合金铸坯直接热旋成形困难 ,需经挤压比大于 4的变形致密 ,有助于热旋成形。耐热粉末铝合金挤压坯加热变薄旋压 ,应采用小压下量多道次的变形过程 ,逐渐细化晶粒组织 ,才能旋出综合性能良好的筒形件。  相似文献   
5.
甲基汞神经毒性检测和评价效应指标--即刻早期基因研究   总被引:4,自引:0,他引:4  
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。  相似文献   
6.
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, < 0.05), and older parks less effectively prevented forest loss inside park boundaries than younger parks (F2,154 = ?4.11, < 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.  相似文献   
7.
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 FST < 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  相似文献   
8.
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  相似文献   
9.
气溶胶中抗生素抗性基因研究进展:以养殖场和医院为例   总被引:1,自引:0,他引:1  
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。  相似文献   
10.
石油污染土壤的生物修复技术及微生物生态效应   总被引:10,自引:5,他引:5  
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.  相似文献   
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