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.     

岷江上游崩塌滑坡分布规律研究

岷江为长江—级支流，上游长３３０ｋｍ，自１９８６年以来，发生崩塌滑坡２００余处，体积约２．１亿ｍ￣３。作者研究了岷江上游崩塌滑坡的分布规律。采用统计指标法，将岷江上游分为三种不同的崩塌滑坡分布密度区：①ＵＸＳ．高密度区；②ＭＸＳ，中密度区；③ＬＸＳ＿３低密度区。     

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.     

官地水电站竹子坝料场高边坡的稳定性分析及其影响因数研究

竹子坝料场是官地水电站混凝土浇筑骨料的重要来源之一。结合竹子坝料场的地形地质情况,以及料场开挖后形成的东、南、西三段人工边坡,运用刚体极限平衡的方法进行稳定性分析及其影响因数的研究。     

农闲期城郊农田灌溉水中典型污染物含量与评价——以西北江三角洲为例

摸查了农田灌溉系统水环境经农（夏）闲期降水等外部强干预调理后的环境污染物含量——该值理论上是环境自净作用之后的最不利值,对农田灌溉系统水环境进行水质评价,探究其对农田土壤质量的潜在污染风险.于2019年6月中旬—7月下旬（降雨集中期）,分别在西北江三角洲城市（清远市、佛山市和江门市）实验基地周边筛选研究区,并在雨后对有覆水的水源区域、灌渠、蓄水池和田间水等采集上覆水,共采得水样27×2份,对其pH值、悬浮物（SS）、矿化度、总磷（TP）、氨氮（NH₄⁺-N）、Cd、As、Pb、Cu和Zn的含量进行检测;对各研究区pH值、SS的成因和影响,矿化度的等级,重金属均值分布等进行分析;对全样品TP、NH₄⁺-N、重金属含量进行Pearson相关性分析和描述性特征分析;通过单因子水质标识指数P_i和综合水质标识指数P分别对各采样点、各构成项目和各研究区进行水质评价.研究发现雨后农田灌溉系统水环境构成复杂,物质呈无显著性差异的迁移,灌溉沿程上覆水中大部分物质可能处于动态平衡,受局部环境影响变小,TP、NH₄⁺-N和重金属等迁移物质主要还是灌溉水体中原有的,受外力驱动扰动后在水动力作用下可能以氮磷结合形态沿灌溉系统发生远距离迁移;使用河流水质标识指数法评价农田灌溉系统水环境,发现该法可以刻画局部灌溉的水质态势,对农田灌溉系统水环境的含量特征评价做出科学、合理的解释,也可以做出综合性定量评价.虽然灌溉水系统结构差异较大,但是从整体上可以初步得出农闲期西北江三角洲农田灌溉水的灌溉风险不高的结论,总体综合水质评价级别为Ⅰ类~Ⅱ类,达到水环境功能区的使用要求.     

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。     

预应力管桩的工作机理及其在基坑支护中的应用

分析了预应力管桩受力破坏的机理和单桩承载力提高的原因,以及预应力管桩作为基坑支护桩的受力特性,并以武汉南国置业有限公司高层公寓综合楼为工程实例,进一步阐明采用预应力管桩作为基坑竖向加固桩,具有明显的经济效益。     

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．     

三峡库区长江水位变化条件下滑坡稳定性二元指标体系研究

安全系数是边坡稳定性评价中的常用方法,在长期的工程实践中积累了丰富的经验,其最大的缺点是不能考虑边坡岩土体中实际存在的不确定性。可靠性理论可有效地考虑边坡系统内实际存在的不确定性和相关性,但是缺乏丰富的工程实践经验,因此,将工程实践经验丰富的安全系数与先进的可靠性理论相结合,建立安全系数与可靠性相耦合的二元评价体系具有重要的理论意义和应用价值。以巴东县东壤口镇宋家屋场滑坡为实例,计算了长江水位从135 m至175 m变化过程中的平均安全系数(最大可能安全系数)和相应的可靠性。将最大可能安全系数与边坡可靠性相乘,对最大可能安全系数进行折减,得到边坡可靠的安全系数。设折减后安全系数的临界值为1．05,由此计算出不同最大可能安全系数的临界变异系数和临界破坏概率。根据不同的最大可能安全系数及它的临界破坏概率,绘制出边坡稳定性分区图。用均值安全系数和可靠性二元指标对宋家屋场滑坡的稳定性进行了评价,结果是可靠的安全系数为1．068,略大于临界值,处于基本稳定状态。文中论述了边坡稳定性二元指标体系的建立方法。     

黄陵至延安高速公路k295+750-k296+050段滑坡稳定性分析与治理

在介绍黄陵至延安高速公路k295+750～k296+050滑坡工程地质情况的基础上,对滑坡的成因和机制进行了分析,并且进行了稳定性计算与评价。最后结合工程实际特点提出了以路肩挡墙作为支挡工程,并辅以刷方减重和地表排水相结合的合理处治方案。