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A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600. 相似文献
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Fanhua Kong Ding Wang Haiwei Yin Iryna Dronova Fan Fei Jiayu Chen Yingxia Pu Manchun Li 《Conservation biology》2021,35(4):1140-1150
Ongoing, rapid urban growth accompanied by habitat fragmentation and loss challenges biodiversity conservation and leads to decreases in ecosystem services. Application of the concept of ecological networks in the preservation and restoration of connections among isolated patches of natural areas is a powerful conservation strategy. However, previous approaches often failed to objectively consider the impacts of complex 3-D city environments on ecological niches. We used airborne lidar-derived information on the 3-D structure of the built environment and vegetation and detailed land use and cover data to characterize habitat quality, niche diversity, and human disturbance and to predict habitat connectivity among 38 identified habitat core areas (HCAs) in Nanjing, China. We used circuit theory and Linkage Mapper to create a landscape resistance layer, simulate habitat connectivity, and identify and prioritize important corridors. We mapped 64 links by using current flow centrality to evaluate each HCA's contribution and the links that facilitate intact connectivity. Values were highest for HCA links located in the west, south, and northeast of the study area, where natural forests with complex 3-D structures predominate. Two smaller HCA areas had high centrality scores relative to their extents, which means they could act as important stepping stones in connectivity planning. The mapped pinch-point regions had narrow and fragile links among the HCAs, suggesting they require special protection. The barriers with the highest impact scores were mainly located at the HCA connections to Purple Mountain and, based on these high scores, are more likely to indicate important locations that can be restored to improve potential connections. Our novel framework allowed us to sufficiently convey spatially explicit information to identify targets for habitat restoration and potential pathways for species movement and dispersal. Such information is critical for assessing existing or potential habitats and corridors and developing strategic plans to balance habitat conservation and other land uses based on scientifically informed connectivity planning and implementation. 相似文献
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随着长江经济带国家战略及沿江区域经济发展战略的实施,长江航运发展面临重大机遇。三峡水库的运行为三峡库区众多支流的航运发展提供了良好环境,作为连接重庆、武汉两大区域航运中心的连接段,库区干支航道的能力提升和标准提高显得尤为迫切。系统核查了三峡库区支流自然条件及航道发展现状,分析了三峡蓄水对支流航道条件的影响及蓄水后库区支流航道存在的问题,依据现有标准规范明确的航道尺度确定方法,论证提出了三峡库区15条主要通航支流河口段航道的通航尺度。最后,提出了加强观测分析与模型论证,加大基础设施建设与航道治理力度,以及跟踪观测三峡库区泥沙累积性淤积对航道的影响等建议。 相似文献
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Alberto Turco MD Bernard Peissel Piero Quaia Raffaella Morandi Luciano Bovicelli Pier Franco Pignatti 《黑龙江环境通报》1992,12(6):513-524
A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity. 相似文献
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R. J. Desnick Ph.D. M.D. J. L. Schuette M. S. Golbus L. Jackson H. A. Lubs D. H. Ledbetter M. J. Mahoney E. Pergament J. L. Simpson J. M. Zachary S. E. Fowler G. G. Rhoads F. De La Cruz 《黑龙江环境通报》1992,12(5):357-372
The accuracy of biochemical and molecular prenatal diagnoses using chorionic villi as the fetal source was assessed by seven centres participating in the NICHD collaborative study on the safety and accuracy of chorionic villus sampling (CVS) and amniocentesis. Of 601 pregnancies studied, biochemical methods were used to determine the diagnosis in 283 fetuses at risk for 35 different metabolic disorders. Fifteen different lysosomal storage diseases accounted for 81 per cent of the biochemical prenatal diagnoses performed, with 57 per cent of these pregnancies at risk for Tay-Sachs disease. No errors were made in the biochemical diagnoses that predicted affected or unaffected fetuses. However, the diagnoses of certain disorders (e.g., mucopolysacchariodosis type IH, metachromatic leukodystrophy, and Krabbe disease) occasionally required confirmatory studies in cultured amniocytes because the enzyme results were inconclusive in direct and/or cultured villi or due to the presence of a pseudodeficiency allele. Of these, only the diagnosis of a fetus at risk for Krabbe disease remained inconclusive after special studies to discriminate between mutant and pseudodeficiency alleles. Recombinant DNA techniques were used to predict the diagnosis of 318 fetuses at risk for 16 different disorders in which the defective disease gene could be detected either directly or by linkage analysis to a nearby polymorphic marker. Of these, 32 per cent were for haemoglobinopathies, 25 per cent for cystic fibrosis, 24 per cent for Duchenne or Becker muscular dystrophy, and 7 per cent for haemophilias. Pregnancies at risk for known disorders with specific molecular lesions (e.g., sickle cell disease) were accurately diagnosed in direct and/or cultured villi. Diagnoses requiring analyses with closely linked polymorphic markers were occasionally uninformative or inconclusive. Maternal contamination was not reported in any biochemical or molecular-based diagnosis. These studies document the high accuracy and rapidity of both biochemical and mutation-specific prenatal diagnoses with direct and cultured chorionic villi. 相似文献
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地震灾害产业关联间接经济损失评估 总被引:4,自引:0,他引:4
地震灾害破坏了一个城市或地区的经济体系的均衡运行状态,震后“残余”的生产能力资源必须经过一段时间的重新调整,才能达到某一新的、较低程度的均衡水平。本文利用投入产出分析法,从机会成本的观点,对调整阶段的生产能力资源“呆滞”损失即产业关联损失进行了评估。 相似文献
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