Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.     

火灾中温度升高对蛋白质构象影响的计算机模拟(Ⅰ)

应用分子力学原理进行了温度对肽链构象影响的计算机模拟,模拟结果显示,火灾中环境温度升高对生物分子的结构和功能是一个很敏感的因素之一,天然生物分子因吸热而使自身构象发生异常变化,进而与特定构象紧密联系的生物活性丧失,发生变性,模拟结果对于从分子水平上揭示火灾对生物体的危害具有重要意义.     

生活垃圾焚烧厂贮坑沥滤液的污染与可处理特性

通过对生活垃圾焚烧厂贮坑沥滤液历时6个月的常规污染物监测,分析了沥滤液中溶解性有机物(DOM)分子量分级和重金属在不同分子量DOM中的分布,以探讨沥滤液的污染与可处理特性结果表明:沥滤液有机污染程度高.沥滤液中有机物以非溶解性(约占有机物总量的23%)和分子量＜4 ku的DOM(超过DOM总量的88%)为主,低碳有机酸和醇的总量占沥滤液中DOM(分子量＜4 ku)的50%.沥滤液中重金属含量高,在DOM各分子量分级中,重金属主要与分子量＜4 ku的DOM相关,尤其是Zn和Ni的分布占90%以上,并且重金属(除As和Hg外)的分布与有机物的分布呈显著的正相关性.根据沥滤液的性质,宜采用混凝或厌氧-好氧生物方法对其进行处理.      

分子生物学技术在污水处理微生物检测中的应用

对现代分子生物学技术在污水生物处理系统微生物检测和群落分析中的应用进行了系统总结,重点对应用较多的PCR技术、FLSH技术进行了介绍并对其优缺点进行了探讨.通过对生物处理系统中微生物检测和生态学研究,可以分析确定系统中功能微生物的数量,群体结构和活性,从而实现构建人工强化生态系统,提高废水生物处理效率的目的.分析认为,以DNA序列和相关的结构基因为基础的分子生物学技术已经在污水生物处理系统的种群分析方面得到了广泛和成功的应用,而且必将会对深入认识和优化污水生物处理过程,加快新工艺的开发和应用以及强化处理工艺的过程控制方面起到更大的作用.     

南京市大气气溶胶中二元羧酸昼夜变化研究

2002年3月14-19日在南京大学校园内进行了为期1周的采样,用以研究大气气溶胶PM_2.5中的低分子量(C₂～C₁₀)二元羧酸的昼夜变化规律.结果表明,南京市大气气溶胶中二元羧酸的夜间质量浓度(平均为460ng/m3)普遍高于相应的白天质量浓度(平均为350 ng/m3).草酸是含量最高的二元羧酸,其次是丁二酸与丙二酸,这3种二元羧酸占所检测到的水溶性有机酸总量的89%.由C3/C4(ρ(丙二酸)/ρ(丁二酸))(平均为1.00)可以判断采样期间气溶胶中有机酸主要来源于大气的光化学氧化反应,从C6/C9(ρ(己二酸)/ρ(壬二酸))(平均为0.88)可以认为生物源是有机酸的一个重要来源.      

中孔分子筛Al-MCM-41催化裂解聚烯烃反应研究

采用水热合成法制备了不同硅铝比的中孔分子筛A l-MCM-41,将其应用于高密度聚乙烯(HDPE)和聚丙烯(PP)的催化裂解反应。通过改变硅铝比、反应温度和催化剂用量,对A l-MCM-41催化HDPE和PP裂解反应的规律进行了探讨,研究表明,HDPE裂解反应受硅铝比的影响较大;而对于PP裂解反应,硅铝比在一定范围内对催化剂活性的影响不明显。另外,与热裂解和HZSM-5小孔分子筛的催化裂解结果进行了比较,结果证明A l-MCM-41具有较高的催化活性和较高的液体产物收率,尤其适合于空间位阻较大的PP的催化裂解反应。     

冬小麦田O3气孔与非气孔沉降及风险评估

为了深入了解农田生态系统的O_3干沉降过程,并基于O_3通量(尤其是气孔O_3累积通量)指标进行风险评估,利用涡度相关系统对冬小麦田的O_3干沉降过程进行了连续动态观测,初步分析O_3浓度和总O_3通量的变化过程,着重探析气孔O_3沉降和非气孔O_3沉降的变化特征及其与主要气象因子的关系,并基于剂量指标(AOT40)和通量指标(DF_s06)分别推算出冬小麦的产量损失率.结果表明,观测期间(自2016年3月16日至5月30日)日平均O_3浓度(cO_3)为32.9 n L·L-1;白天(08:00~18:00)和夜间平均总O_3通量(F_(O3))分别为-7.6 nmol·(m~2·s)~(-1)和-3.1 nmol·(m~2·s)~(-1),日均F_(O3)为-5.1nmol·(m~2·s)~(-1).逐日平均气孔O_3通量(F_s)的变化范围为0~-5.1 nmol·(m~2·s)~(-1),日均F_s为-1.43 nmol·(m~2·s)~(-1).逐日平均非气孔O_3通量(F_(ns))的变化范围为-1.43~-10.31 nmol·(m~2·s)~(-1),日均F_(ns)为-3.66 nmol·(m~2·s)~(-1).较强的太阳辐射(SR)、较高的温度(T)和适度湿润的条件有利于冬小麦气孔沉降;较强的SR、适度的T和湿润条件是有利于冬小麦非气孔沉降.在整个观测期间,总O_3累积吸收通量(DF_(O3))、气孔O_3累积吸收通量(DF_s)和非气孔O_3累积吸收通量(DF_(ns))分别为31.58、9.99和21.59 mmol·m~(-2),总DF_s和总DF_(ns)分别占总DF_(O3)的32%和68%.通过剂量指标AOT40和通量指标DF_s06响应方程计算出的冬小麦产量损失率分别为11.58%~20.37%和20%~23.56%.     

Fate and degradation of nonylphenolic compounds during wastewater treatment process

In order to explore the biodegradation behavior of nonylphenolic compounds during wastewater treatment processing, two full-scale wastewater treatment plants were investigated and batch biodegradation experiments were conducted. The biodegradation pathways under the various operational conditions were identified from batch experiments: shortening of ethoxy-chains dominated under the anaerobic condition, whereas oxidizing of the terminal alcoholic group prevailed over the other routes under the aerobic condition. Results showed that the anoxic condition could accelerate the biodegradation rates of nonylphenolic compounds, but had no influence on the biodegradation pathway. The biodegradation rates of nonylphenol (NP) and short-chain nonylphenol polyethoxylates (NPnEOs, n: number of ethoxy units) increased from the anaerobic condition, then the anoxic, finally to the aerobic condition, while those of long-chain NPnEOs and nonylphenoxy carboxylates (NPECs) seemed similar under the various conditions. Under every operational condition, long-chain NPnEOs showed the highest biodegradation activity, followed by NPECs and short-chain NPnEOs, whereas NP showed relatively recalcitrant characteristics especially under the anaerobic condition. In addition, introducing sulfate and nitrate to the anaerobic condition could enhance the biodegradation of NP and short-chain NPnEOs by supplying more positive redox potentials.