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.     

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.     

电絮凝净化含聚污水影响因素研究

目的为保障油田正常安全生产,促进油田含聚污水的循环利用。方法采用电絮凝技术单因素研究方法开展净化含聚污水的静态实验研究,探讨外加电流密度、极板间距、初始pH及聚合物浓度等因素对净化效果的影响规律。结果当初始pH为7.0,电流密度为4.0 m A/m2,极板间距为1.0 cm,电解16 min时,综合处理效果最佳。此时,含油量与浊度去除率分别为98.85%,99.93%,处理每克油平均消耗为0.0494 g的Al,处理每立方米含聚污水的能耗为0.2895 k Wh。污水中的聚合物浓度越小,净化效果越好。结论中性处理,极板间距为1.0 cm,外加电流密度为4.0 m A/m2,通电16 min是最佳处理条件。     

4-氯苯酚在水溶液中的光化学反应(Ⅰ)单线态氧和自由基的产生

在模拟太阳光照射下，４氯苯酚（４ＣＰ）浓度迅速降低，反应过程对应着产生大量的单线态氧和自由基．金属离子Ｆｅ２＋、Ｆｅ３＋、Ａｌ３＋能够加速这一过程，尤以Ｆｅ２＋、Ｆｅ３＋的影响更明显；在模拟太阳光照射下，向４ＣＰ体系加入的富里酸（ＦＡ），对４ＣＰ浓度降低略起抑制作用，这表明二者之间存在相互作用．但当再加入金属离子Ｆｅ２＋、Ｆｅ３＋、Ａｌ３＋后，能够加速４ＣＰ浓度降低，尤以Ｆｅ２＋、Ｆｅ３＋的影响更显著．     

秦山核电站邻近水域海水光的穿透性能变化研究

本文运用水体可见光的传输机理，讨论了光的传输特性与水中悬浮泥沙，色素和黄色物质的定量关系。同时简述了在秦山核电站邻近海域１９９５年１０月￣１９９６年７月间４个航次的有关水光学特征现场测量过程和实验室分析方法。最后，通过水体中太阳光透透深度和真空层，研究了该邻近海域的光穿透性能的季节性变化。研究表明，核电站运行以来，秦山核电站邻近海域水的光穿透性能变化很小。     

考虑声散射的街道交通噪声预报模型

提出一种预报典型的两侧密集分布建筑物的城市街道交通噪声ＬＡ１０和ＬＡｅｑ声级的计算机仿真模型。模型依据一种修正的虚声源原理。它不仅考虑发生于建筑方面的镜象反射和表面吸收，而且考虑了由于墙面的粗糙性所引起的发生于有限尺寸建筑表面声散射的影响。与实测比较表明本模型可得出良好的预报结果。通过对散射强度加以变化可估计表面声散射对预报声级的影响。结果表明，即使在一个相当混响的场合，镜象反射声能对扩散反射声能     

Mie散射中递推方法的比较

比较了Mie理论计算中的3个递推公式,既正向递推公式、倒递推公式和赵递推公式,分析了3个公式计算归一化消光截面、散射截面和后向散射截面的收敛性能,发现正向递推公式的3种散射截面当x较大时都会出现发散现象,而倒递推公式和赵递推公式都收敛,另外也分析了截断项数的容错性,分析表明赵递推公式对截断项数有最好的鲁棒性.通过上述分析,表明赵递推公式有着最广泛的适用范围与最准确的精度.     

单细胞凝胶电泳技术在环境污染物检测中的应用

主要介绍了单细胞凝胶电泳技术(SCGE),包括SCGE的原理、方法及其在环境污染物检测中的应用,该技术可用多种污染物的检测且灵敏度高,具有广阔的应用前景。即SCGE对大气污染物、重金属、醛类及辐射污染的检测,具有高度敏感性,是具有广阔应用前景的新技术。     

滑坡灾害危险性评价模型比较

通过对庆元地区滑坡灾害的详细研究，比较讨论了单变量评价、决策树评价与逻辑回归法等3种滑坡危险性评价模型在实际应用中的效果。单变量模型最为简单，计算方便，得到的结果也具有较高的准确性，当收集到的滑坡因素越多，对滑坡发育的刻画越精确，则最终评价结果也越可信；决策树算法能迅速从大量样本中归纳出一般规则，并具有较高的精度，但其结果也受到训练样本数量大小和样本维数即参与评价的因素集数量的影响；逻辑回归模型具有计算方法简单、评价结果物理意义明确等突出优点，但需要有大量样本数据的支持才能取得较好的效果。     

细水雾阻隔火焰热辐射的模拟研究

从热辐射传递方程出发，根据Mie散射理论,考虑雾滴对热辐射的散射和吸收特性，建立细水雾阻隔火焰热辐射的两通量模型，并给出简化算法；同时建立小尺度模拟实验系统，对理论模型进行验证。结果表明，两通量模型较为合理地预测了细水雾对火焰热辐射的衰减作用。在此基础上，应用上述理论模型进一步探讨火焰温度、细水雾特性参数、雾场厚度对阻隔热辐射效率的影响，为细水雾系统的实际工程应用提供了理论和依据。