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Huntington's disease: two families with differing clinical features show linkage to the G8 probe 总被引:8,自引:0,他引:8
S E Folstein J A Phillips D A Meyers G A Chase M H Abbott M L Franz P G Waber H H Kazazian P M Conneally W Hobbs 《Science (New York, N.Y.)》1985,229(4715):776-779
To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus. 相似文献
24.
Abbott RJ Smith LC Milne RI Crawford RM Wolff K Balfour J 《Science (New York, N.Y.)》2000,289(5483):1343-1346
The arctic flora is thought to have originated during the late Tertiary, approximately 3 million years ago. Plant migration routes during colonization of the Arctic are currently unknown, and uncertainty remains over where arctic plants survived Pleistocene glaciations. A phylogenetic analysis of chloroplast DNA variation in the purple saxifrage (Saxifraga oppositifolia) indicates that this plant first occurred in the Arctic in western Beringia before it migrated east and west to achieve a circumpolar distribution. The geographical distribution of chloroplast DNA variation in the species supports the hypothesis that, during Pleistocene glaciations, some plant refugia were located in the Arctic as well as at more southern latitudes. 相似文献
25.
New communication technologies such as the microcomputer, videotex/teletext systems, the videocassette recorder, and satellite receiving dishes have been available to farmers since the early 1980s. This longitudinal study examines ethical issues associated with the impact that differential patterns of adoption and use of these technologies have had on inequalities among farmers from 1982 to 1989. The results demonstrate a strong adoption and use bias toward larger scale farmers who already have well-developed skills for handling information. This bias is especially strong for microcomputer and videotex/teletext systems, and it isincreasing over time. Although the same farmers are not adopting all communication innovations, there is a strong tendency toward the already information-rich making the most use of the innovations they adopt. The article concludes with several recommendations that would help minimize some of these information inequalities. 相似文献
26.
C H Vane S C Martin C E Snape G D Abbott 《Journal of agricultural and food chemistry》2001,49(6):2709-2716
The oyster mushroom (Pleurotus ostreatus) is widely cultivated on wheat straw (Triticum aestivum); however, there is a need to better understand the relationship between the chemical composition of the compost and mushroom growth. Wheat straw was degraded over a period of 63 days by P. ostreatus during which time it was sampled at weekly intervals. Off-line thermochemolysis with tetramethylammonium hydroxide and solid-state (13)C NMR were then used in the molecular characterization of the undegraded wheat straw and the degraded samples. The degraded wheat straw samples had a lower proportion of syringyl- to guaiacyl-derived moieties and cinnamyl- to guaiacyl-derived moieties than the undegraded control. There were increases in both guaiacyl and syringyl acid to aldehyde ratios with composting time, which showed that side-chain oxidation has been mediated by P. ostreatus. The (13)C NMR spectra confirmed the increase in carboxyl content but indicated that the overall lignin and methoxyl contents remained relatively constant, although some nonsystematic variations were observed. The spectra also showed a decrease in amorphous noncellulosic polysaccharides in relation to the crystalline cellulose upon degradation. 相似文献
27.
Malm O Guimarães JRD Castro MB Bastos WR Viana JP Branches FJP Silveira EG Pfeiffer WC 《Water, air, and soil pollution》1997,97(1-2):45-51
Informal economy of gold mining has contaminated some important river basins in Amazon. Follow-up studies on critical compartments showed some areas with high Hg levels in fish as well as in human hair samples. Average Hg in piscivorous fish in the Madeira river itself was 846 ppb (N=284) with a maximum of 3921 ppb. Mercury in fish from non polluted areas in this basin shows high variability, even for single species. A seasonal variation in Hg content was observed, with higher values at the end of the dry season. In the upper Tapajós basin comparable values were found for fish but with a definite decreasing trend downstream. Average value for piscivorous fish in the whole Tapajós basin is 482 ppb (N=122) with a maximum value of 3770 ppb. Hair Hg was higher in fishing villages in the Tapajós (average: 17 ppm; with N=432 and maximum value of 176 ppm) than in the Madeira (average: 9 ppm; N=169; maximum 71 ppm), and data from some areas of the Tapajós suggest a decrease with time. Mercury was much higher in urine of goldshop workers in Santarém (low Tapajós) than in Alta Floresta (high Tapajbs) and show a decreasing trend in both cases, probably related to the significant decline in gold mining activities during the study period (1986–1994). 相似文献
28.
This paper reports an uncertainty analysis of critical loads for acid deposition for a site in southern England, using the Steady State Mass Balance Model. The uncertainty bounds, distribution type and correlation structure for each of the 18 input parameters was considered explicitly, and overall uncertainty estimated by Monte Carlo methods. Estimates of deposition uncertainty were made from measured data and an atmospheric dispersion model, and hence the uncertainty in exceedance could also be calculated. The uncertainties of the calculated critical loads were generally much lower than those of the input parameters due to a “compensation of errors” mechanism – coefficients of variation ranged from 13% for CLmaxN to 37% for CL(A). With 1990 deposition, the probability that the critical load was exceeded was > 0.99; to reduce this probability to 0.50, a 63% reduction in deposition is required; to 0.05, an 82% reduction. With 1997 deposition, which was lower than that in 1990, exceedance probabilities declined and uncertainties in exceedance narrowed as deposition uncertainty had less effect. The parameters contributing most to the uncertainty in critical loads were weathering rates, base cation uptake rates, and choice of critical chemical value, indicating possible research priorities. However, the different critical load parameters were to some extent sensitive to different input parameters. The application of such probabilistic results to environmental regulation is discussed. 相似文献
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B. T. L. Bell G. J. Baker L. C. Abbott J. H. Foreman S. K. Kneller 《Anatomia, histologia, embryologia》1995,24(1):39-45
The vascular anatomy of the ethmoidal area in six normal horses and two normal ponies was studied using vascularcorrosion casts. The major arterial supply to the ethmoidal area sterns from an intracranial source. The internal and external ethmoidal arteries anastomose on the rostral intracranial surface of the cribriform plate to form the arterial ethmoidal rete which arborizes and passes through the perforations of the cribriform plate to supply the ethmoid labyrinth. A minor arterial supply to the ventral portion of the ethmoid labyrinth sterns from a small caudal nasal branch of the sphenopalatine artery. Multiple parallel venules drain the ethmoid labyrinth rostrally to its apex then join the venous drainage from the surrounding sinuses. 相似文献