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951.
J. C. Defesche D. E. van Diermen P. J. Lansberg R. J. Lamping P. W. A. Reymer M. R. Hayden J. J. P. Kastelein 《Human genetics》1993,92(6):567-570
In South African Afrikaners, three point mutations in the gene coding for the low-density lipoprotein (LDL)-receptor are responsible for more than 95% of the cases of familial hypercholesterolemia (FH). To investigate whether one or more of these mutations originated in The Netherlands, a large group of Dutch heterozygous FH patients was screened for the presence of these three mutations. Of these, a missense mutation in exon 9 of the LDL-receptor gene, resulting in a substitution of Met for Val408, responsible for 15% of FH in Afrikaners, was found in 19 (1.5%) of 1268 FH patients of Dutch descent. Nine of the patients carrying the exon 9 mutation on one allele shared the LDL-receptor DNA haplotype with an FH patient from South Africa, who was homozygous for the same mutation. This would suggest that the mutation in these patients and in the South African patient have a common ancestral background. The remaining ten FH patients all shared a common haplotype, partly identical to the Afrikaner haplotype, which chould have arisen from a single recombinational event. This mutation has not been described in persons other than of Dutch ancestry and supports the hypothesis that this mutation in exon 9 originated in The Netherlands and, in all likelihood, was introduced into South Africa by early Dutch settlers in the seventeenth century. 相似文献
952.
Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q 总被引:3,自引:0,他引:3
E. C. M. Mariman S. E. C. van Beersum C. W. R. J. Cremers F. M. van Baars H. H. Ropers 《Human genetics》1993,91(4):357-361
The gene for autosomal, dominantly inherited, non-chromaffin paragangliomas has previously been mapped at 11q23-qter by linkage analysis of a single family. In the present study, we have used genetic markers from 11q for the analysis of two distantly related pedigrees with the same disorder. Linkage analysis and haplotyping indicate that the gene underlying the disorder in the present family is located on chromosome 11q proximal to the tyrosinase gene locus (11q14–q21). Closely linked markers are the human homologue of the murine INT2 protooncogene and the anonymous DNA marker D11S527. A maximum lod score of 5.4 (=0.0) has been obtained for linkage between the disorder and the chromosomal region defined by these markers. The human INT2 gene can be regarded as a candidate for the disorder on the basis of its expression pattern during embryogenesis in the mouse. However, haplotype analysis indicates that this gene is probably not the predisposing genetic factor in the present family. 相似文献
953.
D. Daniëlle de Vries Ilse J. de Wijs Gerhard Wolff Uwe-Peter Ketelsen Hans-Hilger Ropers Bernard A. van Oost 《Human genetics》1993,91(1):51-54
A family with myoclonus epilepsy has been described previously as suffering from an X-linked disorder, because at least four males were affected, and only mild and variable symptoms were seen in some female carriers. In this family, we have now identified a mitochondrial AG (8344) heteroplasmic point mutation. This point mutation has been described in families with maternally inherited myoclonus epilepsy and ragged red fibers. The degree of severity of the disorder in the different family members was reflected in the relative quantity of mutated mitochondrial DNA. It is concluded that the mode of inheritance in this family is not X-linked but maternal. 相似文献
954.
Long-lasting electronic products contribute to a sustainable society; however, both expected and actual lifetimes are in decline. This research provides in-depth insights into consumers’ considerations about product lifetimes, barriers to extending lifetimes, and responses to a product lifetime label. Results of interviews (n = 22) with Dutch consumers suggest a positive view on long-lasting products. Nevertheless, their products’ value depreciated during their lifetimes. Consumers consider themselves unable to estimate how long products should last, which can be detrimental as low expectations tend to negatively influence actual lifetimes. Also, use intensity and consumers’ care(less) behavior influence the lifetime. To extend product lifetimes, consumers often disregard the option of repairing malfunctioning products. They have limited knowledge and ability, and believe repair provides poor value for money. Lifetime extension can also be hindered by market-related factors, such as convenient replacement services, new technological developments, and (attractive) deals. We suggest a product lifetime label should contain relevant and reliable information; furthermore, we recommend including (extended) warranty information. When information about repairability is included, potential negative responses should be considered. Finally, raising awareness about the environmental impact of short-lived products via a label may have a positive effect but requires more research attention. 相似文献
955.
Alkalinity Tolerance of Woody Species Used in Bauxite Waste Rehabilitation, Western Australia 总被引:2,自引:0,他引:2
David T. Bell Carol F. Wilkins Paul G. van der Moezel Samuel C. Ward 《Restoration Ecology》1993,1(1):51-58
Glasshouse trials, using trickle irrigation and increasing levels of NaOH-induced alkalinity, identified species that could be expected to tolerate the high-pH conditions of bauxite processing waste residue sites. Of 29 taxa tested, the most tolerant were Casuarina obesa, Melaleuca lanceolata, M. armillaris, M. nesophila, Eucalyptus loxophleba, E. halophila, E. platypus, Tamarix aphylla, and a particular clone of E. camaldulensis; E. spathulata, E. tetragona, E. preissiana, E. gomphocephala, E. diptera, and E. occidentalis proved to be relatively sensitive to severe alkaline conditions. Tolerance appeared to relate to an ability to maintain root membrane function, nutrient uptake balance, and ultimately root tissue structure while under increasing levels of alkalinity stress. Species normally inhabiting alkaline soils tended to have increased growth rates in nutrient irrigation conditions between pH 8 and 10 compared with control plants irrigated with nutrient solutions of pH values near 7.4. However, once the irrigation solutions reached pH 12 and the buffering capacity of the soil appeared to be exceeded, the condition of susceptible plants rapidly declined and death followed. Sensitive plants initially showed symptoms related to nutrient deficiency, followed by wilting and death as the root systems failed. Field trial conditions in the bauxite residue impoundments at Kwinana, Western Australia, include soils with pH values as high as 11.00. In general, the relative survival and growth of seedlings after eight months were predicted by the response under glasshouse trial conditions. Appropriately designed stress trials can be important ecological techniques in choosing species most capable of surviving difficult environmental conditions in the rehabilitation of damaged landscapes. 相似文献
956.
Keli Li G. F. Veen Freddy C. ten Hooven Jeffrey A. Harvey Wim H. van der Putten 《Ecology letters》2023,26(1):37-52
Soils contain biotic and abiotic legacies of previous conditions that may influence plant community biomass and associated aboveground biodiversity. However, little is known about the relative strengths and interactions of the various belowground legacies on aboveground plant–insect interactions. We used an outdoor mesocosm experiment to investigate the belowground legacy effects of range-expanding versus native plants, extreme drought and their interactions on plants, aphids and pollinators. We show that plant biomass was influenced more strongly by the previous plant community than by the previous summer drought. Plant communities consisted of four congeneric pairs of natives and range expanders, and their responses were not unanimous. Legacy effects affected the abundance of aphids more strongly than pollinators. We conclude that legacies can be contained as soil ‘memories’ that influence aboveground plant community interactions in the next growing season. These soil-borne ‘memories’ can be altered by climate warming-induced plant range shifts and extreme drought. 相似文献
957.
958.
N. M. Jansonius J. H. van Hateren 《Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology》1993,172(4):467-471
We recorded from the spiking on-off unit in the first optic chiasm (between lamina and medulla) in the blowfly Calliphora vicina, and investigated its spatial properties. The receptive field extends over (11.4±0.9)° horizontally and (8.7±0.6)° vertically, i.e. about 7 by 5 interommatidial angles. The line spread function of the on-off unit — calculated from its response to moving sinusoidal gratings — has a half-width of (2.3±0.2)°. This half-width is slightly broader than that of the photoreceptor. Lateral inhibition occurs when two different areas of the receptive field are stimulated simultaneously. Fast temporal adaptation (i.e. adaptation to trains of short light pulses) takes place independently in different areas of the receptive field. 相似文献
959.
Yolande Bertin Jean-Pierre Girardeau Maurice Der Vartanian Christine Martin 《FEMS microbiology letters》1993,108(1):59-67
Abstract The putative chaperone-like protein ClpE, required for biogenesis of the Escherichia coli capsule-like antigen CS31A, was compared with ten known periplasmic chaperones from E. coli, Klebsiella pneumoniae, Bordetella pertussis, Haemophilus influenzae and Yersinia pestis . The amino acid sequence alignment was superimposed onto the three-dimensional structure of the PapD chaperone of uropathogenic E. coli , and amino acid residues involved in maintaining the structure integrity of the suggested binding site were found identical in most of the 11 chaperones. Construction of a phylogenetic tree to investigate the relationship within the chaperone family has revealed interesting degrees of relatedness between the different proteins. 相似文献
960.