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.     

A decision tree approach modelling functional group abundance in a pasture ecosystem

Decision tree, one of the data mining approaches, was used to model the relative abundance of five functional groups of plant species, namely high fertility response grasses (HFRG), low fertility tolerance grasses (LFTG), legume, moss and flatweeds in a New Zealand hill-pasture ecosystem using aboveground biomass. The model outputs were integrated with a geographic information system (GIS) to map and validate the predictions on a pasture. The decision tree models clearly revealed the interactions between the functional groups and environmental and management factors, and also indicated the relative importance of these factors in influencing the functional group abundance. Soil Olsen P was the most significant factor influencing the abundance of LFTG and moss, while soil bulk density, slope and annual P fertiliser input were the most significant factors influencing the abundance of legume, HFRG and flatweeds, respectively. Generally, slope and soil Olsen P were the two key factors underlying the patterns of abundance for these five functional groups. For the five functional groups studied, there was an overall predictive accuracy of 75%. Modelling functional group abundance simplified the investigation of the complex interrelationship between species and environment in a pasture ecosystem. The integration of the decision tree with GIS in this study provides a platform to investigate community structure and functional composition for a pasture over space, and thus can be applied as a tool in pasture management.     

Effect of long-term fertilization on soil nitrate distribution

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厦门西港海水质量对鱼卵胚胎发育畸形率的影响

以养殖场培育的花尾胡椒鲷受精卵为实验材料测试了厦门西域5个站位的表层水水样对花尾胡椒鲷受精卵的胚胎发育毒性，并运用GC－MS手段分析了水样中的美国EPA优控的16PAHs组分的含量。结果表明：3号站位（厦门市工业和生活污水主要排放口的外侧）和4号站位（厦门西港的港区）的水样对鱼卵的胚胎发育的毒性最强。8号站位（位于主航道并濒临嵩屿电厂）的水样对鱼卵胚胎发良的毒性次之，1号站位（湾口）和5号站位（内港）的水样对鱼卵的胚胎发育的毒性较小。水样中的PAHs含量分析结果表明，仅用水样中的PAHs含量不能全面地反映水样对鱼卵胚胎发育的毒性。最后，对本实验方法应用于海洋环境生物监测的有效性进行了探讨。     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.