Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

实行计划生育是人口、资源、环境协调发展的重要保证

人口是人口、资源与环境巨系统中最根本的因素。人口增长过快,将直接加大对资源与环境的压力,并影响人口素质的提高。所以,长期坚持实行计划生育这一基本国策是实现人口、资源、环境协调发展的重要保证。为此,必须要统一认识,增强控制人口的危机感和责任感;实施人口和计划生育目标管理责任制;扎实稳妥地做好农村计划生育工作;齐抓共管,保证人口计划的完成。     

Progress in Restoration of the Mauritius Kestrel

In the 1970s, the Mauritius Kestrel ( Falco punctatus ) was the most endangered bird of prey in the world, at one time with only two known pairs surviving in the remnant native forest of the Black River Gorges (ca. 4,000 ha). At the end of the 1991–1992 breeding season, a minimum of 30 nesting pairs and more than 170 individuals were distributed in four separate forested areas, thanks mainly to manipulation of the reproductive potential of the wild pairs, to captive propagation, and to reintroduction (restocking). Since 1984, 139 young have been reared from 618 eggs laid by captive kestrels, and 147 from 265 wild eggs incubated and hatched in the laboratory; 235 young kestrels have been released on Mauritius by hacking and fostering. Adjustments in feeding and nesting habits of kestrels hacked and released outside the Black River Gorges in areas dominated by exotic vegetation and agriculture have allowed these kestrels to survive and reproduce in an array of previously unused habitats. Now that the kestrels have been released from dependence on the remnant and dying native forest, a viable population of more than 100 nesting pairs should be achievable in a few more years.     

Multicriteria Group Decision-making Model for Environmental Conflict Analysis in the Cape Region,Mexico

This paper is concerned with developing a model for group decision making under multiple criteria. The multiple criteria group decision making (MCGDM)problem involves a set of feasible land use patterns that are evaluated on the basis of multiple, conflicting and noncommensurate criteria by a group of individuals. The model integrates the Analytic Hierarchy Process (AHP) and an integer mathematical programming method. The former provides a tool for structuring the decision problem and determining land suitability for different socio-economicactivities (the uses of land), the latter is used to identify the land use pattern that maximizes consensus among interest groups. The model is used to analyze environmental conflict over land resource allocation in the Cape Region of Mexico.     

三峡工程与长江中游沿江产业带建设

讨论了长江中游沿江产业带发展条件、限制因素和未来发展，指出三峡工程的建设将对长江中游产业的布局和经济发展带来深刻的变化；防洪作用促进中游两岸大型工业项目的兴建，调整现有沿江城镇的布局，使之结构趋于合理化；电力供应经解能源的紧张状态，改善航运条件，发挥长江黄金水道的综合效益。当然，由于坝下河道冲刷，对现有的码头带来一定的影响，由于冬季水位抬升引起两岸低湖田地下水位上升，加剧两岸土壤潜育化和沼泽化。     

金属探测器的现状与发展前景

目前,随着科学技术的不断发展,犯罪分子和恐怖分子也利用高新技术制造出新式的武器、爆炸物等.各个国家也对安检越来越重视.通道式安检门在整个安检过程中扮演着一个十分重要的角色.目前,在国内这个领域,国外产品占了很大一部分.国内产品与国外产品相比还有一定的技术差距.主要体现在漏报和误报.漏报是因为灵敏度达不到,误报是因为抗干扰能力较差.而国外产品在这方面却有很大的优势,因此很大一部分政府机关、企业、大型活动组织者都倾向于购买国外产品.衡量一个安检门的优势除了误报和漏报两个重要指标外,还有其它一些技术性能,也是衡量一个门质量好坏的重要参数.     

Bhopal disaster—a personal experience

Bhopal Gas Tragedy was the worst industrial accident in the world where several thousand persons lost their lives. It occurred at the Union Carbide plant located inside the city of Bhopal and close to the railway station, at midnight of December 2-3, 1984 due to the leakage of MIC gas which took the local sleeping and floating population unawares.

This paper describes the experience of a transit passenger who reached the Bhopal Railway Station by train at about the same time when the deadly gas leakage occurred.     

Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.