Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

江苏宿迁地震台短水准测量场地改造的探讨

地震前兆数据观测中,经常会遇到各种干扰,有的干扰可以很快排除,但有的是无法排除的.目前我们的短水准受到铺路影响就属于后一种情形,它直接影响到我们测量场地的生存.为了让观测数据得以延续,我们努力寻找解决问题的办法,最后采用把观测点平移再对比观测的方法来解决问题.     

上海市在用车推行I/M制度中检测方法的研究

对在用车实施I/M制度，采用底盘测功机模拟道路工况检测汽车排放污染物，按美国国家环保局（EPA）推荐的方法有3种：瞬态短工总法（IM240）、稳态加速模拟工况法（ASM）和瞬态短工部简易质量分析检测法（VMAS）。根据上海市的试验结果，对上述3种方法的检测精度、设备投资以及运行维护诸方面进行分析比较，阐明上海市采用VMAS方法的依据和应注意的问题，并对应采用的模拟道路工况提出了看法。     

Circulating ‘trophoblast’ cells in pregnancy have maternal genetic markers

A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315⁺ cells and their use for prenatal diagnosis of β-thalassaemia. H315 ⁺ cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible.     

小边距冲孔模的凹模设计

在五金、家电、办公用品等行业中,常存在一些零件需要先弯曲成形,再进行冲孔。由于结构设计要求,有些孔到弯曲边的距离尺寸较小,尺寸精度要求较高,因此在这类模具设计中,凹模的强度问题较为突出。从结构设计和工艺设计两方面给出了设计这种模具的一些心得体会。     

北京市机动车行驶周期的建立方法研究

提出了一种北京市机动车行驶周期的建立方法。行驶周期的确定是建立在准确的行驶工况数据之上的，通过结合使用GPS与OEM两种先进的技术，收集机动车行驶工况数据，为北京市行驶周期的建立提供了新的方法。并通过初步的实路测量试验得到了一个北京市的简易机动车行驶周期，最后与国外的一些著名行驶周期作了对比。     

西部地区加快开发应当克服“资源近视症”

本文从分析我国传统的经济增长方式入手,通过对资源近视症”的表现及后果的分析,提出西部西地区,特别是西部少数民族地区只有树立全面的资源观,立足优势,面向市场,抓住机遇,合理开发资源和利用资源,才能走出一条符合本民族,本地区实际的可持续发展之路。     

影响上海地区热带气旋频数的预测水平评估

在文献「１」研究的基础上,探讨了热带气旋频数预测水平的评估方法,定义了三个更适合于评估每年热带气旋预测性能的参数,对影响上海地区热带气旋频数的预测水平进行了评估,并与“九五”攻关前的业务预测性进行了比较。     

中型污水处理厂中药物和个人护理品的分布与去除

为了解15种药物及个人护理用品(PPCPs)在中小型污水处理厂中的分布及其去除效果,采用液相色谱-串联质谱(LC-MS/MS)技术对3座A2/O工艺的污水处理厂水样进行分析研究。结果显示,除普萘洛尔、吉非罗平和吲哚美辛在3座中小型污水处理厂各个工艺单元中均未被检出外,其余12种目标化合物的检出频率在90%~100%之间。进水水样中PPCPs的平均检出浓度为2 285.4 ng/L,其中咖啡因(CF)的平均检出浓度最高为973.3 ng/L,酮洛芬(KP)的平均检出浓度次之为844.7 ng/L,两者之和占进水水样中PPCPs平均含量的79.5%,表明污水处理厂的主要污染物为CF和KP。3座污水处理厂对CF的去除效果最为显著,平均去除率为95.3%,对15种PPCPs总去除效率在39.3%~82.8%之间。