Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

省域生态环境质量动态评价及差异研究

以2010~2015年30个省域为研究对象，采用“驱动力-压力-状态-影响-响应”框架构建评价指标体系，运用逐层纵横向拉开档次法确定指标权重，运用“时间度”和“熵值”法确定时间权重，构建TOWA-GA混合算子生态环境质量动态评价模型.结果表明：6a来，30个省域生态环境质量总体均值为0.837，整体呈好转趋势，但省域间差异明显.通过Theil指数分析发现，省域间总体差异下降了15.91%，人口密度和人口自然增长率是省域间差异的主要影响因素.     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

从动力地质作用原理探讨沙漠化成因

大规模沙漠化从岩石记录中可以追溯到中生代中期，第四纪以来南北两半球各存在一条中纬度沙漠带，中国的沙漠化是这个全球沙漠化进程的一个组成部分。沙漠化是在地质演化过程中受内、外动力地质作用联合控制的地质事件。是岩石圈与大气圈、生物圈及水圈强烈作用在地壳表层形成的一种特殊地质现象。这种现象的形成与演化是漫长的和具有周期性的，不会因为局部的条件变化而发生整体意义上的突变。人类活动是局部的，在整个地球沙漠化进程中只是起到一个加速剂的作用。沙漠化过程可分为3个阶段，即物理风化与沙源积聚阶段、风沙作用阶段和沙漠化阶段。沙漠期后沙丘沙经过固化生草、胶结成岩阶段后即形成风成砂岩。     

Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing

HLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21-OH-deficiency (21-OH-def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21-OH-def allele. Since certain HLA-B locus antigens are found in significantly increased frequencies among patients with 21-OH-def, there is a relatively high incidence of HLA-B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA-B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA-linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases.     

陕西铜厂矿田控矿断裂带显微构造特征

本文在研究铜厂矿田地质特征和宏观断裂构造带特征的基础上 ,对矿田内不同类型断裂构造岩进行了分类和显微结构面力学性质的鉴定 ,研究了岩石和矿物的形变与相变 ,探讨了微观领域内的动力成岩成矿作用 ,并分别估算和厘定了古应力的大小和方向 ,为再现矿田构造应力场奠定了基础。     

近百年中国亚热带地区农业气候带界限动态变化及其对农业生产的影响

本文利用我国东部亚热带地区315个站点的资料,采用农业气候带分界指标,分析了北亚热带北界、中亚热带北界、南亚热带北界3个界限近百年的动态变化以及农业气候带界限波动变化对农业生产的影响。     

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

加氢原料缓冲罐串压事故动态模拟研究

通过工艺流程动态模拟,研究某渣油加氢装置在反应进料泵事故紧急停车后,不同工艺设计方案组合条件下,引发高压气体反串到低压原料缓冲罐的事故影响。研究结果表明:泵出口双单向阀和紧急切断阀的设计对降低超压事故的发生有很好的保护作用;切断阀关闭时间越短对原料缓冲罐超压保护越有利;安全阀和缓冲罐的设计条件须与切断阀关闭时间和单向阀数量等设计条件综合考虑。通过动态模拟方法研究工艺操作异常工况,对优化工艺设计,提高本质安全设计有参考价值。     

杞麓湖主要污染物的动态变化特征研究

以１９９７年杞麓湖水质监测结果为基础，运用相关分析，双因子方差分析等方法，对杞麓湖主要污染物动态变化特征的研究结果表明，杞麓湖主要污染物的空间分布较为均匀；ＢＯＤ５和ＴＮ都有较为明显的季节变化。