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81.
Kayoko Saito 《黑龙江环境通报》2006,26(5):415-417
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. FCMD is recognized as an autosomal recessive genetic defect. Genetic counselling is recommended for parents at risk of having a child with FCMD. Given the high risk and overwhelming prospect of having another child with this incurable devastating condition leads many couples to consider prenatal diagnosis. In Japanese families, haplotype analysis using microsatellite markers is available. In non-Japanese families, DNA sequence analysis is available. Both disease-causing alleles of an affected family member must be identified before prenatal testing can be performed. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
82.
R. Saura W. Traore L. Taine Z. Q. Wen D. Roux B. Maugey-Laulom M. Ruffie A. Vergnaud J. Horovitz 《黑龙江环境通报》1995,15(7):609-614
Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed. 相似文献
83.
S. N. Sannikov I. V. Petrova N. S. Sannikova T. V. Filippova 《Russian Journal of Ecology》2005,36(6):377-382
Gradients of Nei's genetic distances between 15 samples of Pinus sylvestris L. trees were analyzed along three submeridional transects, from Scandinavia to the Mediterranean and Transcaucasia. As a result, distinct chorogenetic differentiation was revealed between the populations of this species growing in climatically specific regions of northern and southern Europe. Considerable Nei's distances (DN = 0.045–0.056) and their gradients, combined with differences in stable phenotypic characters (the composition of monoterpenes and morphological parameters of cones) determined at the Pyrenean and Caucasian mountain borders, suggest that the P. sylvestris species structure includes two South Eurasian subspecies, the Pyrenean P. sylvestris L., ssp. iberica Svoboda and the Transcaucasian P. sylvestris L., ssp. hamata (Stev.) Fomin. 相似文献
84.
We describe here a new type of method for isolation of rare cell populations in biological fluids. The method is based on the anthraquinone technology for covalent binding of molecules to a polymer surface. An anthraquinone molecule conjugated via a linker to an electrophilic group (AQ Immobilizer™ reagent, Exiqon A/S) is covalently bound to a polymer surface by UV irradiation. The electrophilic group of this AQ reagent can covalently bind a specific antibody directed against a specific cell marker. Applying a cell sample to the functional surface, the cells having the specific cell marker on the cell surface will bind to the antibody on the functional surface. Using this technique, even extremely small cell populations may be isolated. We succeeded in isolating fetal cells from maternal blood samples in the first trimester for chromosome defects genetic diagnosis. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
85.
Ronald Sandler 《Conservation biology》2020,34(2):378-385
The ethical issues associated with using genetic engineering and gene drives in conservation are typically described as consisting of risk assessment and management, public engagement and acceptance, opportunity costs, risk and benefit distributions, and oversight. These are important, but the ethical concerns extend beyond them because the use of genetic engineering has the potential to significantly alter the practices, concepts, and value commitments of conservation. I sought to elucidate the broader set of ethical issues connected with a potential genetic engineering turn in conservation and provide an approach to ethical analysis of novel conservation technologies. The primary rationales offered in support of using genetic engineering and gene drives in conservation are efficiency and necessity for achieving conservation goals. The instrumentalist ethical perspective associated with these rationales involves assessing novel technologies as a means to accomplish desired ends. For powerful emerging technologies the instrumentalist perspective needs to be complemented by a form-of-life perspective frequently applied in the philosophy of technology. The form-of-life perspective involves considering how novel technologies restructure the activities into which they are introduced. When the form-of-life perspective is applied to creative genetic engineering in conservation, it brings into focus a set of ethical issues, such as those associated with power, meaning, relationships, and values, that are not captured by the instrumentalist perspective. It also illuminates why the use of gene drives in conservation is so ethically and philosophically interesting. 相似文献
86.
Amanda Xuereb Cassidy C. D'Aloia Marco Andrello Louis Bernatchez Marie-Josée Fortin 《Conservation biology》2021,35(3):909-920
The availability of genomic data for an increasing number of species makes it possible to incorporate evolutionary processes into conservation plans. Recent studies show how genetic data can inform spatial conservation prioritization (SCP), but they focus on metrics of diversity and distinctness derived primarily from neutral genetic data sets. Identifying adaptive genetic markers can provide important information regarding the capacity for populations to adapt to environmental change. Yet, the effect of including metrics based on adaptive genomic data into SCP in comparison to more widely used neutral genetic metrics has not been explored. We used existing genomic data on a commercially exploited species, the giant California sea cucumber (Parastichopus californicus), to perform SCP for the coastal region of British Columbia (BC), Canada. Using a RAD-seq data set for 717 P. californicus individuals across 24 sampling locations, we identified putatively adaptive (i.e., candidate) single nucleotide polymorphisms (SNPs) based on genotype–environment associations with seafloor temperature. We calculated various metrics for both neutral and candidate SNPs and compared SCP outcomes with independent metrics and combinations of metrics. Priority areas varied depending on whether neutral or candidate SNPs were used and on the specific metric used. For example, targeting sites with a high frequency of warm-temperature-associated alleles to support persistence under future warming prioritized areas in the southern coastal region. In contrast, targeting sites with high expected heterozygosity at candidate loci to support persistence under future environmental uncertainty prioritized areas in the north. When combining metrics, all scenarios generated intermediate solutions, protecting sites that span latitudinal and thermal gradients. Our results demonstrate that distinguishing between neutral and adaptive markers can affect conservation solutions and emphasize the importance of defining objectives when choosing among various genomic metrics for SCP. 相似文献
87.
Maintenance of biodiversity through seed banks and botanical gardens, where the wealth of species’ genetic variation may be preserved ex situ, is a major goal of conservation. However, challenges can persist in optimizing ex situ collections if trade-offs exist among cost, effort, and conserving species evolutionary potential, particularly when genetic data are not available. We evaluated the genetic consequences of population preservation informed by geographic (isolation by distance [IBD]) and environmental (isolation by environment [IBE]) distance for ex situ collections for which population provenance is available. We used 19 genetic and genomic data sets from 15 plant species to assess the proportion of population genetic differentiation explained by geographic and environmental factors and to simulate ex situ collections prioritizing source populations based on pairwise geographic distance, environmental distance, or both. Specifically, we tested the impact prioritizing sampling based on these distances may have on the capture of neutral, functional, or putatively adaptive genetic diversity and differentiation. Individually, IBD and IBE explained limited population genetic differences across all 3 genetic marker classes (IBD, 10–16%; IBE, 1–5.5%). Together, they explained a substantial proportion of population genetic differences for functional (45%) and adaptive (71%) variation. Simulated ex situ collections revealed that inclusion of IBD, IBE, or both increased allelic diversity and genetic differentiation captured among populations, particularly for loci that may be important for adaptation. Thus, prioritizing population collections based on environmental and geographic distance data can optimize genetic variation captured ex situ. For the vast majority of plant species for which there is no genetic information, these data are invaluable to conservation because they can guide preservation of genetic variation needed to maintain evolutionary potential within collections. 相似文献
88.
The genetic diversity of populations, which contributes greatly to their adaptive potential, is negatively affected by anthropogenic habitat fragmentation and destruction. However, continental‐scale losses of genetic diversity also resulted from the population expansions that followed the end of the last glaciation, an element that is rarely considered in a conservation context. We addressed this issue in a meta‐analysis in which we compared the spatial patterns of vulnerability of 18 widespread European amphibians in light of phylogeographic histories (glacial refugia and postglacial routes) and anthropogenic disturbances. Conservation statuses significantly worsened with distances from refugia, particularly in the context of industrial agriculture; human population density also had a negative effect. These findings suggest that features associated with the loss of genetic diversity in post‐glacial amphibian populations (such as enhanced fixation load or depressed adaptive potential) may increase their susceptibility to current threats (e.g., habitat fragmentation and pesticide use). We propose that the phylogeographic status of populations (i.e., refugial vs. post‐glacial) should be considered in conservation assessments for regional and national red lists. 相似文献
89.
Assessing the components of adaptive capacity to improve conservation and management efforts under global change 下载免费PDF全文
Adrienne B. Nicotra Erik A. Beever Amanda L. Robertson Gretchen E. Hofmann John O'Leary 《Conservation biology》2015,29(5):1268-1278
Natural‐resource managers and other conservation practitioners are under unprecedented pressure to categorize and quantify the vulnerability of natural systems based on assessment of the exposure, sensitivity, and adaptive capacity of species to climate change. Despite the urgent need for these assessments, neither the theoretical basis of adaptive capacity nor the practical issues underlying its quantification has been articulated in a manner that is directly applicable to natural‐resource management. Both are critical for researchers, managers, and other conservation practitioners to develop reliable strategies for assessing adaptive capacity. Drawing from principles of classical and contemporary research and examples from terrestrial, marine, plant, and animal systems, we examined broadly the theory behind the concept of adaptive capacity. We then considered how interdisciplinary, trait‐ and triage‐based approaches encompassing the oft‐overlooked interactions among components of adaptive capacity can be used to identify species and populations likely to have higher (or lower) adaptive capacity. We identified the challenges and value of such endeavors and argue for a concerted interdisciplinary research approach that combines ecology, ecological genetics, and eco‐physiology to reflect the interacting components of adaptive capacity. We aimed to provide a basis for constructive discussion between natural‐resource managers and researchers, discussions urgently needed to identify research directions that will deliver answers to real‐world questions facing resource managers, other conservation practitioners, and policy makers. Directing research to both seek general patterns and identify ways to facilitate adaptive capacity of key species and populations within species, will enable conservation ecologists and resource managers to maximize returns on research and management investment and arrive at novel and dynamic management and policy decisions. 相似文献
90.
Implications of genetics and current protected areas for conservation of 5 endangered primates in China 下载免费PDF全文
Christian Roos Ziming Wang ZuoFu Xiang Pingfen Zhu Boshi Wang Baoping Ren Fanglei Shi Huijuan Pan Ming Li 《Conservation biology》2015,29(6):1508-1517
Most of China's 24–28 primate species are threatened with extinction. Habitat reduction and fragmentation are perhaps the greatest threats. We used published data from a conservation genetics study of 5 endangered primates in China (Rhinopithecus roxellana, R. bieti, R. brelichi, Trachypithecus francoisi, and T. leucocephalus); distribution data on these species; and the distribution, area, and location of protected areas to inform conservation strategies for these primates. All 5 species were separated into subpopulations with unique genetic components. Gene flow appeared to be strongly impeded by agricultural land, meadows used for grazing, highways, and humans dwellings. Most species declined severely or diverged concurrently as human population and crop land cover increased. Nature reserves were not evenly distributed across subpopulations with unique genetic backgrounds. Certain small subpopulations were severely fragmented and had higher extinction risk than others. Primate mobility is limited and their genetic structure is strong and susceptible to substantial loss of diversity due to local extinction. Thus, to maximize preservation of genetic diversity in all these primate species, our results suggest protection is required for all sub‐populations. Key priorities for their conservation include maintaining R. roxellana in Shennongjia national reserve, subpopulations S4 and S5 of R. bieti and of R. brelichi in Fanjingshan national reserve, subpopulation CGX of T. francoisi in central Guangxi Province, and all 3 T. leucocephalus sub‐populations in central Guangxi Province. 相似文献