Prenatal diagnosis of pyruvate dehydrogenase E1α subunit deficiency

Pyruvate dehydrogenase (PDH) E1α subunit deficiency is an X-linked inborn error of metabolism affecting males and females with equal frequency. The diagnosis is usually based on determination of enzyme activity, although this may present difficulties in some females because of X-inactivation patterns favouring expression of the normal X chromosome. This is a particular problem for prenatal diagnosis using chorionic villus cells where normal enzyme assay results do not necessarily exclude the diagnosis and confirmatory X-inactivation analysis may be complicated by variable methylation of active and inactive X chromosomes. We describe prenatal diagnosis in two pregnancies in a family following diagnosis of a PDH E1α deficient male. The first prenatal diagnosis was performed by enzyme assay, but by the time of the subsequent pregnancy, the underlying mutation in the affected male had been identified and direct gene analysis was possible. This study highlights the limitations of diagnosis of PDH E1α deficiency based on measurement of the gene product and illustrates the need for mutation analysis in affected individuals.     

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.     

Polymerase chain reaction analysis of the cystic fibrosis ΔF508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier

The efficiency of the polymerase chain reaction (PCR) in detecting the cystic fibrosis (CF) ΔF508 mutation (which is the most common mutation of CF) was assessed in single human blastomeres. Twenty-one human immature oocytes (germinal-vesicle-stage oocytes) that had been donated for research were matured in vitro and a single spermatozoon from a carrier of the CF ΔF508 mutation was injected into the ooplasm. Fourteen embryos were obtained after intracytoplasmic sperm injection (ICSI). PCR analysis was carried out on 70 single blastomeres isolated from these 14 embryos. The results showed that the efficiency of DNA amplification by PCR in single nucleate blastomeres was 94 per cent (59/63). There were no false-positive results since none of the blank samples or the blastomeres without a nucleus showed an amplified signal. We found that nine embryos were homozygous for the unaffected genotype and that four embryos were heterozygous since they contained both the unaffected and the ΔF508 genotype. In a four-cell embryo, we observed the homozygous unaffected genotype in one blastomere and a heterozygous ΔF508/unaffected genotype in the other three blastomeres.     

2005年春季亚洲尘的激光雷达观测

呼和浩特的激光雷达自2003年设置以来不间断地进行着测定。观测结果表明2005年春季沙尘发生次数较少。从1月到5月只观测到5次，其中3次发生在4月份。2004年的沙尘季节出现较早，在3月份就发生过多次。与其相比今年沙尘发生的季节较晚。在所有发生的沙尘现象中最大规模的沙尘现象发生在2005年4月28—29日。激光雷达观测到的消光系数超过2km^-1。（相当于重量浓度为3．5mg／m^3）该沙尘层的高度达到2km，沙尘浓度最高的区域分布在自地面至1km高处。（北京的观测结果表明，在高度2km附近有漂浮的沙尘层。另外，利用CFORS模型模拟的后向轨迹线的解析结果推断其发生源在蒙古南部地区。2005年的特征是在中国境内产生的次数较少，在蒙古发生的次数较多。因此，推断这主要是由于蒙古国境内积雪较少的原因所致。）     

利用激光雷达观测黄沙气溶胶

作为传统的黄沙监测技术的发展和延伸，激光雷达已经成为一种全新的黄沙观测手段，它的使用标志着对黄沙的观测由二维空间发展到三维空间。本文简要阐述了NIES型激光雷达的工作原理，激光雷达的构成，对利用激光雷达观测黄沙气溶胶进行了讨论，提出了利用激光雷达观测黄沙天气，具有连续性、准确性和可视化的三大特点。     

激光相变硬化提高模具寿命的探讨

介绍了激光相变硬化的原理 ,并分析其提高模具寿命的针对性 ,进而讨论了激光相变硬化提高模具寿命的机理     

模具制造的表面工程技术

针对模具制造和使用过程中的表面质量改性技术原理及应用特点进行了分析与研究 ,采用新的改性工艺 ,有利于提高模具的表面质量及使用寿命。     

甲醛污染水的生物学效应

本实验研究甲醛污染的淡水和海水对细菌、植物和动物的生物学效应。甲醛的毒害作用是显著的。含0.036—0.36%甲醛的纯水能引起鼠伤寒沙门氏菌组氨酸缺陷型菌株TA100的回复突变,含0.036%、0.0036%、0.00036%甲醛的水溶液行短期(6h)处理紫露草花枝基部,24h休复后发现四分体细胞中微核率显著增高。含0.0018%、0.0036%、0.018%甲醛的水处理蚕豆根,引起根尖细胞中微核率明显增高。0.00018%甲醛的海水使马粪海胆幼虫在45min内死亡。0.0072%甲醛的海水使该幼虫在2min内死亡。0.0072%甲醛的海水能使贻贝担轮幼虫在5min内死亡。0.00018%甲醛的海水使贻贝幼虫在48h内死亡。0.000108%甲醛的海水使马粪海胆幼虫在72h内死亡。实验证明蚕豆根尖细胞和海胆幼虫是良好的监测淡水与海水污染的材料,甲醛能引起DNA中碱基对置换突变。甲醛在海水中产生增效效应。     

激光散射技术及其对絮凝剂分子特性检测和性能研究

本文提出一种将激光散射技术应用于对絮凝剂性能研究的方法。综述了利用该技术可实现对絮凝剂胶体分子粒径、形态结构、粒径分布和重均分子量的精确测量 ,论述了激光散射技术在絮凝剂沉降性能的研究及絮凝剂改进提高方面的重要作用     

对化学品登记要求的数据解释：皮肤致敏重复染毒及致变

本文对化学品登记所要求的部分健康效应数据——皮肤致敏、重复经口染毒、致变做了解释.涉及到的测试参数包括:皮肤致敏、重复(14/28天)经口啮动物毒性、基因突变、染色体畸变和DMA效应.