Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.     

DNA polymorphism and globin chain analysis in the prenatal diagnosis of β-thalassaemia major in Taiwan

Thirty-six pregnancies in 25 families at risk of β-thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the β-globin gene cluster: ϵ-HincII, ^Gγ-HindIII, ^Aγ-HindIII, Φβ-HincII, 3′Φβ-HincII, β-AvaII, and 3′β BarnHI. β-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, β-thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound-guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea-acetic acid-Triton X-100-12 per cent polyacrylamide gel electrophoresis. β-Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which β-thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of β-thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.     

Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.     

两种共生模式之比较

在对两种共生模式—生态工业园和绿色供应链作了基本解释和案例分析后，比较了这两种模式的共性和异性，得出了它们在生态工业体系建设中具有统一性和互补性的结论，对建设城市生态工业体系提出了看法。     

Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.     

皮革和毛皮加工废水处理技术

采用混凝沉淀-酸化水解-悬挂链曝气-生物接触氧化组合工艺处理皮革和毛皮加工生产废水。实验结果表明;进水COD为2400mg/L,处理后出水COD≤100mg/L,去除率≥95.8%。各项水质指标均稳定地达到了GB8978-96污水综合排放一级标准。     

中山市金属回收企业绿色供应链绩效评价研究

废旧金属资源的回收是循环经济的重要组成部分,进一步加强废旧金属回收行业的管理,对于保证资源永续、减少环境污染、节省能源、提高经济效益具有重要的意义。当前的竞争环境使金属回收企业和政府主管部门急需通过金属回收企业绿色供应链绩效评价,了解企业的绿色供应链管理状况,以适应越来越激烈的市场竞争。因而建立一个金属回收企业绿色供应链绩效评价模型不仅对绿色供应链的实践具有指导意义,而且还能对金属回收企业绿色供应链的绩效作出评价,改善其绿色供应链管理。     

Implications of Land Use Changes on Carbon Dynamics and Sequestration—Evaluation from Forestry Datasets, India

Forests and soils are a major sink of carbon, and land use changes can affect the magnitude of above ground and below ground carbon stores and the net flux of carbon between the land and the atmosphere. Studies on methods for examining the future consequences of changes in patterns of land use change and carbon flux gains importance, as they provide different options for CO₂ mitigation strategies. In this study, a simulation approach combining Markov chain processes and carbon pools for forests and soils has been implemented to study the carbon flows over a period of time. Markov chains have been computed by converting the land use change and forestry data of India from 1997 to 1999 into a matrix of conditional probabilities reflecting the changes from one class at time t to another class time t+1. Results from Markov modeling suggested Indian forests as a potential sink for 0.94 Gt carbon, with an increase in dense forest area of about 75.93 Mha and decrease of about 3.4 Mha and 5.0 Mha in open and scrub forests, if similar land use changes that occurred during 1997–1999 would continue. The limiting probabilities suggested 34.27 percent as dense forest, 6.90 as open forest, 0.4 percent mangrove forest, 0.1 percent scrub and 58 percent as non-forest area. Although Indian forests are found to be a potential carbon sink, analysis of results from transition probabilities for different years till 2050 suggests that, the forests will continue to be a source of about 20.59 MtC to the atmosphere. The implications of these results in the context of increasing anthropogenic pressure on open and scrub forests and their contribution to carbon source from land use change and forestry sector are discussed. Some of the mitigation aspects to reduce greenhouse gas emissions from land use change and forestry sector in India are also reviewed in the study.     

供应链信息风险的形成机理和防范对策

笔者首先论述了供应链的信息风险 ,即牛鞭效应 ,供应链中的逆向选择、败德行为 ;然后分别从管理学角度、经济学理论、系统论分析了供应链信息风险形成的机理 ;最后 ,根据信息风险的机理 ,通过利用现代信息技术 ,建立激励机制 ,签定合同中防范牛鞭效应 ,防范供应链中的逆向选择和败德行为的发生。