·遗传咨询·

1．多囊肾的遗传 问：我有家族多囊肾遗传史,自己双肾有囊肿,现在怀孕29周,胎儿彩超双肾大,有回声,医生判定为多囊肾,我如果不要这胎,再怀孕,有不遗传的可能吗？     

Australopithecus afarensis : bipédie stricte ou associée à une composante arboricole ? Critiques et révision du matériel fémoral

Although much research has been carried out on Australopithecus afarensis locomotion, no consensus has yet been reached. Our new critic study on femoral material brings to the fore a strictly bipedal behaviour within this taxon. Our results are based on the pertinence of human anatomical characteristics among A. afarensis and on the absence of characteristics revealing arboreal displacement. These results have emerged from our different observation and interpretation of some preceding authors concerning the anatomy of these fossil hominids. It is important to underline that apomorphic characteristics of this species are difficult to interpret. They must not however be used to support the idea of arboreal displacement simply based on the fact of a no totally human morphe. We believe that present day humans do not necessarily reflect the earliest strict bipedal anatomic model. An the other hand, it appears that the disagreement between the two locomotor hypothesis for A. afarensis that are bipedalism and arboreal displacement, facing the possibility of bipedalism associated with negligible arboreal displacement, results more from an evolutionary fact than from a real scientific conflict.     

马克·史蒂文·普塔什尼

分子生物学的任务之一就是研究基因的表达,无论是低等的细菌,还是高等的哺乳动物甚至人,在特定的情况下只有部分基因表达,同时另外的部分则不表达,甚至在一个细胞内部的基因表达也存在这种状况,很自然基因开关的研究就成为生命科学领域最基本的问题之一。上世纪60年代,对该问题的研究深入到了分子水平,其中1967年哈佛大学的马克·史蒂文·普塔什尼（Mark Steven Ptashne）阻遏蛋白的发现掀开了该领域崭新的一页。     

Chronic Atmospheric NO<Stack><Subscript>3</Subscript><Superscript>−</Superscript></Stack> Deposition Does Not Induce NO<Stack><Subscript>3</Subscript><Superscript>−</Superscript></Stack> Use by <Emphasis Type="Italic">Acer saccharum</Emphasis> Marsh.

The ability of an ecosystem to retain anthropogenic nitrogen (N) deposition is dependent upon plant and soil sinks for N, the strengths of which may be altered by chronic atmospheric N deposition. Sugar maple (Acer saccharum Marsh.), the dominant overstory tree in northern hardwood forests of the Lake States region, has a limited capacity to take up and assimilate NO₃⁻. However, it is uncertain whether long-term exposure to NO₃⁻ deposition might induce NO₃⁻ uptake by this ecologically important overstory tree. Here, we investigate whether 10 years of experimental NO₃⁻ deposition (30 kg N ha⁻¹ y⁻¹) could induce NO₃⁻ uptake and assimilation in overstory sugar maple (approximately 90 years old), which would enable this species to function as a direct sink for atmospheric NO₃⁻ deposition. Kinetic parameters for NH₄⁺ and NO₃⁻ uptake in fine roots, as well as leaf and root NO₃⁻ reductase activity, were measured under conditions of ambient and experimental NO₃⁻ deposition in four sugar maple-dominated stands spanning the geographic distribution of northern hardwood forests in the Upper Lake States. Chronic NO₃⁻ deposition did not alter the V _max or K _m for NO₃⁻ and NH₄⁺ uptake nor did it influence NO₃⁻ reductase activity in leaves and fine roots. Moreover, the mean V _max for NH₄⁺ uptake (5.15 μmol ¹⁵N g⁻¹ h⁻¹) was eight times greater than the V _max for NO₃⁻ uptake (0.63 μmol ¹⁵N g⁻¹ h⁻¹), indicating a much greater physiological capacity for NH₄⁺ uptake in this species. Additionally, NO₃⁻ reductase activity was lower than most values for woody plants previously reported in the literature, further indicating a low physiological potential for NO₃⁻ assimilation in sugar maple. Our results demonstrate that chronic NO₃⁻ deposition has not induced the physiological capacity for NO₃⁻ uptake and assimilation by sugar maple, making this dominant species an unlikely direct sink for anthropogenic NO₃⁻ deposition.     

哈罗德&#183;埃利奥特&#183;瓦姆斯

1939年12月18日,哈罗德&#183;埃利奥特&#183;瓦姆斯（Harold Eliot Varmus）出生于美国纽约东南部的欧申赛德社区,是犹太人的后裔。瓦姆斯的父亲弗兰克是纽约的一位家庭医生,母亲是当地一位精神病学方面的社会工作者,因此瓦姆斯的童年就在纽约度过。1957年,瓦姆斯进入到阿姆赫斯特学院进行医学预科班的学习,1961年,凭借一篇关于狄更斯的文学而获得文学学士学位。毕业后瓦姆斯甚至考虑将来可以将文学作为自己的职业,并于1962年又获得哈佛大学英语文学的硕士学位。     

“人类基因组计划”自启动至“后基因组计划”的转折

“人类基因组计划”自启动至“后基因组计划”的转折杨焕明（中国医学科学院中国协和医科大学教授）（中国“人类基因组计划”重大项目秘书长）今年是“人类基因组计划”（ＨｕｍａｎＧｅｎｏｍｅＰｒｏｊｅｃｔ,ＨＧＰ）正式提出十周年。对这一可与“曼哈顿原子弹计划”、“阿波罗登月计划”相媲美的创举作一历史性的回顾,纵览十年来这一计划的成果、瞻望这一计划的前景,对于我国抓住机遇,接受挑战是很有必要的。     

Negative molecular ion of deuterium D<Stack><Subscript>2</Subscript><Superscript>−</Superscript></Stack>

D₂⁻ ions produced in collisions of D⁻ ions with relative energies of 2.5–9.2 eV were detected for the first time. It is shown that the effective cross section for this reaction is no less than 1.5 × 10⁻¹⁴ cm². Along with the theoretically predicted short-lived state of negative molecular deuterium ions, a state existing for more than 1 μs was observed.     

Flow of Deposited Inorganic N in Two Gleysol-dominated Mountain Catchments Traced with <Superscript>15</Superscript>NO<Subscript>3</Subscript><Superscript>−</Superscript> and <Superscript>15</Superscript>NH<Subscript>4</Subscript><Superscript>+</Superscript>

In two mountain ecosystems at the Alptal research site in central Switzerland, pulses of ¹⁵NO₃ and ¹⁵NH₄ were separately applied to trace deposited inorganic N. One forested and one litter meadow catchment, each approximately 1600 m², were delimited by trenches in the Gleysols. K¹⁵NO₃ was applied weekly or fortnightly over one year with a backpack sprayer, thus labelling the atmospheric nitrate deposition. After the sampling and a one-year break, ¹⁵NH₄Cl was applied as a second one-year pulse, followed by a second sampling campaign. Trees (needles, branches and bole wood), ground vegetation, litter layer and soil (LF, A and B horizon) were sampled at the end of each labelling period. Extractable inorganic N, microbial N, and immobilised soil N were analysed in the LF and A horizons. During the whole labelling period, the runoff water was sampled as well. Most of the added tracer remained in both ecosystems. More NO₃⁻ than NH₄⁺ tracer was retained, especially in the forest. The highest recovery was in the soil, mainly in the organic horizon, and in the ground vegetation, especially in the mosses. Event-based runoff analyses showed an immediate response of ¹⁵NO₃⁻ in runoff, with sharp ¹⁵N peaks corresponding to discharge peaks. NO₃⁻ leaching showed a clear seasonal pattern, being highest in spring during snowmelt. The high capacity of N retention in these ecosystems leads to the assumption that deposited N accumulates in the soil organic matter, causing a progressive decline of its C:N ratio.     

Reconstitution de la végétation et du paléoclimat à partir de charbons de bois prélevés sur les sites du Paléolithique dans la région de Jungwon en Corée

Hundreds samples of the charcoals and waterlogged woods excavated from three late Paleolithic sites (Suyanggae, Gunang-gul and Sorori) in the Jungwon Region in Korea were analyzed to reconstruct the vegetation and paleoclimate in the region. Analyzed charcoal samples from the Suyanggae site show that the climate was cold in the lower part and it became more warm and dry in the upper part. From the Gunang-gul site, only Picea spp. was identified, indicating cool climates. From the Sorori site, two species were found; Alnus spp. (95%) and Ulmus spp. (5%). No conifers were discovered. The species composition indicates that the climate condition of central Korean peninsula around 8,800 BP was little cooler and wetter condition.     

L'hominidé du Pléistocène supérieur en Corée

Since the middle of 1970s, one rock-shelter, six caves and one open archaeological site have yielded several hominid fossils. Among them, fossils from Yonggok, Mandal, Sangsi and Hungsu cave sites are useful to reconstruct the general shape of the Upper Pleistocene Hominids in Korea. The main study of this paper is to focus on the reconstruction of the general shape of the upper Pleistocene hominids, and to examine the cause of cranial changes from the late upper Paleolithic to Mesolithic period in Korea. Biomechanical principles are also applied to reconstruct the social activity of the upper Paleolithic man in Korea. In addition, it is assumed that main proponent of Paleolithic cultures in Korea might be Homo sapiens rather than any other species. Based on the anatomical characteristics of skull, the axillary border of the scapular and the midshaft of the femur, general appearance of Homo sapiens during the Pleistocene in Korea could be reconstructed.     

Dynamic data replacement and adaptive scheduling policies in spark

Improper data replacement and inappropriate selection of job scheduling policy are important reasons for the degradation of Spark system operation speed, which directly causes the performance degradation of Spark parallel computing. In this paper, we analyze the existing caching mechanism of Spark and find that there is still more room for optimization of the existing caching policy. For the task structure analysis, the key information of Spark tasks is taken out to obtain the data and memory usage during the task runtime, and based on this, an RDD weight calculation method is proposed, which integrates various factors affecting the RDD usage and establishes an RDD weight model. Based on this model, a minimum weight replacement algorithm based on RDD structure analyzing is proposed. The algorithm ensure that the relatively more valuable data in the data replacement process can be cached into memory. In addition, the default job scheduling algorithm of the Spark framework considers a single factor, which cannot form effective scheduling for jobs and causes a waste of cluster resources. In this paper, an adaptive job scheduling policy based on job classification is proposed to solve the above problem. The policy can classify job types and schedule resources more effectively for different types of jobs. The experimental results show that the proposed dynamic data replacement algorithm effectively improves Spark's memory utilization. The proposed job classification-based adaptive job scheduling algorithm effectively improves the system resource utilization and shortens the job completion time.

     

Le groupe des « bisons adossés » de Lascaux. Étude de la technique de l'artiste par analyse des pigments

The painting matter of the “back to back bison's panel” of Lascaux was examined and analysed by electron microscopy in order to understand the know-how of Magdalenian artists. The observation of several samples coming from specific areas of the two bisons give an access to the nature of the used pigments, to the preparation mode used to obtain various colours and also to the application mode. Thanks to this physicochemical approach, we can make hypotheses about the mind and the gestures of the artists.     

Aux origines de la Spiritualité : la notion de transcendance au Paléolithique

In a previous note we presented the expression of the late paleolithic spirituality (Welté and Lambert, 2004). A special analytic grid was used as a possible tool for a demonstration. We separeted rationality from metaphysic; notions which are linked with dialectic relations between necessity (daily constraints), thought, action and evolution in the paleolithic period. Starting from the no direct material activities like burials, funeral materials and art, we purpose now that such notions existed before the upper Paleolithic. We infer that a privilegious set of interactions between the animal and the human appeared early in the thought of the people, before the upper Paleolithic. A metaphysic univers forced itself upon them as an evident “anti-world” which is the symmetric shape of the real and tangible world. In such a context, the social system(s) could not discard these duality.     

« Flûte » et pointes de la Grosse Badlhöhle, Autriche

The Grosse Badlhöhle (Austria, Steiermark) is the origin of one of the most perfect bone points of the early Aurignacian and one of the best perforated femurs of the same period, which can be regarded as musical instruments. Two other fragments of points raise intriguing questions on the first Homo sapiens sapiens which cannot be solved today but will contribute to future research. A review on the debate of Palaeolithic flutes will follow with experimental proofs of boring artificial holes with high quality pictures on the blow-hole and the lack of gnawing traces on the opposite face. The musical possibility of an instrument with only one hole is discussed with ethnographic analogies. Hafting, optimal conditions of strength and possible use of arrows will close the discussion on the Badlhöhle bone artefacts.     

Comparaison de l'expression de certains caractères crâniens sur les hominidés chinois du Pléistocène récent et de l'Holocène (grotte supérieure de Zhoukoudian, sites de Longxian et de Yanqing)

The human remains recovered from “Grotte supérieure de Zhoukoudian” are the best-preserved Late Pleistocene human fossils in East Asia. For decades, as the representative of the Late Pleistocene human in East Asia, the Upper Cave skulls have been playing important role in the research of origins of modern Mongoloids and American Indians. With the advance of the origin and evolution of modern humans, more attention has been paid to the details and the mechanisms for the late Pleistocene human evolution and the formation of modern human populations. Both the origin and diversification of modern humans have been stressed. Some studies further trigger the debaters on the Upper Cave Man concerning its evolutionary level and its role in the formation of modern human populations in East Asia. To further explore these problems, we examined and compared 12 non-metric features on the 3 Late Pleistocene Upper Cave skulls and 162 Holocene individuals earthed from two archaeological sites of North China (Longxian and Yanqing). Our results indicate that 8 on the 12 features have different expression patterns between Upper Cave Man and recent Chinese leading the authors to believe that more primitive expressions appeared on the Upper Cave Man than on recent Chinese populations. Based on these findings, some problems on the intragroup variation in Late Pleistocene and Holocene populations are discussed.     

Characterization and functional analysis of hsp21.8b: An orthologous small heat shock protein gene in Tribolium castaneum

Small heat shock proteins (sHSPs) act as molecular chaperones and are widely distributed in all kinds of organisms. Comparative analysis revealed that an orthologous shsp was present during insect evolution. Here, hsp21.8b, one insect orthologous shsp, had been identified in Tribolium castaneum. Quantitative real‐time PCR illustrated that Tchsp21.8b was expressed in all developmental stages, along with the lowest expression at early embryonic stage and relative high expression at other stages especially in late eggs and late pupae. In the adult period, Tchsp21.8b exhibited the highest expression level in central nervous system and followed in elytron, epidermis, ovary and fat body. Moreover, it was upregulated 3.39‐fold in response to enhanced heat stress (45°C) for 4 hr but not to cold stress (4°C) and was upregulated by 1.73‐ to 1.94‐fold under ultraviolet (UV) exposure during 4–6 hr. It was also downregulated by 20.8%–41.8% under starvation in 3 days and had a “down‐up‐down” trend under the pathogen stresses. Larval RNA interference of Tchsp21.8b caused 40.6% insects mortality and reduced the oviposition amount by 66.0% and only 21.0% of the ds‐Tchsp21.8b eggs could hatch into larvae. These results suggested that as an orthologous shsp, Tchsp21.8b not only plays important roles in the growth, development and fecundity of T. castaneum but with the competence to resist the environment stresses, although the response is relatively weak compared to other hsps. Results from this study also uncovered the functions of the orthologous shsp in the development and anti‐stresses ability of T. castanuem. It provided more scientific evidence for revealing the physiological mechanisms of shsps of the insects and enhanced the capabilities to control different pests.     

Conception et exécution de bases de données intégrées pour l'analyse des rapports spatiotemporels des artefacts du Paléolithique

The archaeologists excavate the historic site and analyze data from the excavation site. Therefore, they study about the past affairs and circumstances unknown to the world. These data are composed of stones, plants, bones and geological features, which are stored in separate files according to the fields of study. It is important to mention that this information become the first step toward the solution of some hypothesis in Archaeology. Therefore, we need the system that can not only support integrated environment to find clues of the past, but also manage existing artifact data systematically and grasp relationships among the data. In this paper, we modeled the time, which is used in archaeology and geology, and built an entity relationship database to store Paleolithic data excavated in Jungwon region site of the Republic of Korea as one resource, which seem to give a base for integrated research and relationships in archaeology. In addition, we developed the Graphic User Interface that allows various users to connect to the established system through the web.