Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inherited mutation in the gene encoding the plasma protein transthyretin (TTR). We here report the first protocol for single-cell detection of the Met30 mutation in FAP type I and its application to PGD. A nested PCR reaction for exon 2 of the TTR gene was developed. The PCR product was then analysed by restriction enzyme analysis and SSCP allowing the detection of the point mutation. Ten clinical cycles were performed in seven couples. From the 93 metaphase II (MII) injected oocytes, 82 were normally fertilized and 78 were biopsied. A positive signal in the nested PCR reaction was obtained in 61 blastomeres, corresponding to a DNA amplification efficiency of 78.2%. No allele dropout (ADO) or contamination were detected. A biochemical pregnancy was obtained in three cases and a clinical pregnancy in one couple is actually in normal evolution. Copyright © 2001 John Wiley & Sons, Ltd.     

基于高程的环境库兹涅茨曲线实证分析

本文利用GIS的空间分析技术。以高程带为取样单元。研究在高程带上三种主要的大气污染物与经济发展之间的定量关系。以重庆市为例,验证环境库兹涅茨在高程上是否存在。研究结果发现。污染物浓度随高程的增加呈非单调下降的趋势。人均GDP随高程的增加先增大后减小。在高程上。污染物浓度与经济发展之间的关系和两者在时间序列和国别（或地区）序列上环境库兹涅茨曲线研究的结论相似。其中。TSP和NOx分别与人均GDP之间呈较稳定的呈“N”形和饲“U”形关系。受人口密度和高程影响较大；而SO2与人均GDP之间关系不稳定。     

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

紫外辐射下的生物降解及微生物群落的变化

分别采用一体式循环床紫外光/生物膜反应器（PCBBR）和气升式内循环的紫外光/生物膜反应器（ILPBR）,用于苯酚、2,4,6-三氯酚（TCP）和抗生素药物磺胺甲恶唑（SMX）的降解.结果表明,苯酚、TCP和SMX在紫外光解与生物降解的共同作用下,其去除速率分别达到0.65、0.11和0.17 mg.（L.min）–1...     

Persistence and mobility of 2,4-D in unsaturated soil zone under winter wheat crop in sub-tropical region of India

The present study was undertaken to determine the persistence and mobility of 2,4-dichlorophenoxy acetic acid (2,4-D) in unsaturated soil zone under real field conditions for the wheat crop in Roorkee, India. Three experimental plots were chosen in the agricultural field itself to represent the real field conditions in the study area and the potential movement and persistence of herbicide 2,4-D was investigated under three different irrigation treatments. The presence of herbicide along with soil water content was determined in soil at different depths at a temporal scale. The movement of the herbicide was also simulated numerically by solving the coupled soil water content movement and mass transport equations using HYDRUS-1D. The measured soil water content trends and the 2,4-D concentration profiles showed a good agreement with the numerically simulated results. The maximum effect of the herbicide was primarily retained up to 15 cm of the soil profile. The current existing dosage of 0.5 kg ha⁻¹ of pesticide was found to be safe to avoid soil contamination as no residue of 2,4-D was traced at the end of the wheat crop season in any of the plots. Higher concentrations of 2,4-D were also simulated numerically and the simulated results showed that the safe dosage of pesticide application would depend on irrigation treatments.     

The culture of compound bioflocculant and the analysis of its activated components

利用农业固体废弃物秸秆类纤维素为原料制备复合型生物絮凝剂（CBF）,优化了CBF的培育条件。同时解析了CBF活性物质在发酵液中的分布,并对CBF的活性组分进行了研究。结果表明,在高效纤维素降解菌HIT-3的作用下,秸秆类纤维素发酵3天产糖量达到高峰,此时接入CBF产生菌于灭菌后的纤维素发酵液中,在30℃、140r/min的旋转式摇床上培养36h,整个过程中只需将纤维素发酵培养基的pH值调节到7.2。在上述条件下CBF可获得较优的絮凝效果;多糖是CBF的主要组成成分,CBF的热稳定性良好。其絮凝活性物质主要分布在上清液中。     

活性污泥对四环素的吸附性能研究

通过批量平衡法研究了四环素在活性污泥上的吸附行为.结果表明,污泥混合液浓度和四环素初始浓度对吸附平衡时间、污泥吸附量和污泥吸附率均有较大影响.伪二级反应动力学模型较伪一级反应动力学模型更符合本吸附实验.在10、25℃条件下,四环素在活性污泥上的吸附行为较符合Langmuir模型,最大吸附量分别是31.14、70.95 mg.g-1;在40℃下,符合Henry模型.应用D-R模型判定吸附类型,10℃(平均吸附能为9.13 kJ.mol-1)下,化学吸附占主导;40℃(平均吸附能为7.07 kJ.mol-1)下,物理吸附占主导.温度升高,污泥对四环素的吸附能力增大.离子交换是四环素在活性污泥上吸附的一种机制.四环素的初始浓度为5、10、20 mg.L-1,钠离子浓度由0 mol.L-1增加到0.1 mol.L-1时,吸附量分别下降15.32%、15.00%、20.12%.当pH在5～10之间时,pH为6的条件下污泥对四环素的吸附量最大.