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.     

长江三峡地区坡地发育初步研究

坡地发育是地貌学研究的基本问题之一。三峡地区坡地发育的研究对三峡库岸稳定性的评估和三峡移民的土地开发具有十分重要的意义。首先从概括坡地发育的研究进展，阐述科学家们对坡地发育的不同看法入手，引出三峡地区坡地发育的特殊性。初步研究三峡地区的坡地发育具有分段式分进的特点，包括中山峰陡坡的剥蚀后退过程，山顶缓坡的风化剥蚀夷平的过程，上段斜坡的片流坡地侵蚀过程，下段陡坡的剥坡后退过程，山麓堆积缓坡的剥蚀过程等。通过分析三峡地区坡地的五种坡段的成因、现状、发展趋势以及它们对三峡库区的稳定性和三峡移民的土地开发的影响，预测未来的三峡库岸，大部分为剥蚀陡坡，部分为崩塌滑坡陡坡，三峡沿岸城镇开发建设的重点将是库岸有坡地的防护工程。     

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.     

基于地形位置指数的赤水河流域植被时空变化研究

地形因子和植被覆盖是区域灾害评价的关键指标,也是山区型村镇建设生态安全评估的重要内容.为探析山区型村镇建设的生态约束条件,以赤水河流域为研究对象,基于1998—2018年SPOT_VGT NDVI数据,利用地形位置指数（Topographic Position Index,TPI）和坡度位置指数方法,研究了赤水河流域植被生长季NDVI时空变化及地形分异特征.结果表明:①赤水河流域内,1998—2018年植被生长季平均NDVI呈缓慢上升趋势,斜率为0.004 7;NDVI>0.60的集中连片区域主要分布在古蔺县北部、赤水市大部和习水县西北部,占赤水河流域总面积的8.42%;Sen's slope在0.009~0.015区间时,赤水河流域植被生长增强趋势最明显,主要集中分布在赤水河中上游、二道河以及下游的大同河干流地区.②TPI在-39.4~34.3区间的面积最多,为6 221.63 km2,占赤水河流域总面积的34.05%;将赤水河流域坡度类型划分为山脊、上坡、中坡、平坡、下坡、山谷6个坡度位置类型,其中,中坡面积（7 792.02 km2）最大,占流域总面积的42.64%,表明TPI数值较小且坡度大于5°的区域是赤水河流域地形主体.③赤水河流域植被在山脊的平均NDVI最高,为0.747,且山脊平均Sen's slope最高,为0.007 2;山谷平均NDVI最低,为0.709.研究显示,赤水河流域植被分布在118.5~486.9的TPI区间或分布在山脊处时整体生长较好,且生长增强趋势最明显.      

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。     

高强度钢纵梁内板的成形性分析

重点对高强度钢纵梁内板的成形性进行了分析,并且在详细分析零件几何特点的基础上,对此模型的圆角半径进行了修改,修改后零件的成形性得到了显著提高。     

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．     

基于地震力的滑坡稳定性分析

概述了滑坡稳定性与地震力的关系．以剩余推力法为基础推导了基于地震力的滑坡稳定性计算公式及步骤。根据该公式计算的几个滑坡稳定性结果，得出了在滑坡稳定性评价中是否考虑地震力很有可能得出截然不同的结果，进而影响正确作出是否对滑坡进行治理的决策的结论。由此可见，地震力的作用是滑坡稳定性分析中一个不可忽视的因素。     

元磨高速公路边坡生物防护技术研究

对云南元磨高速公路的边坡生物防护的植物筛选技术和施工工艺进行了研究。试验探索了湿法喷播中草灌的比例问题，发现了短萼灰叶(山毛豆)是适宜的灌木种，并提出了“两步施工法”。