Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

铅锌矿区玉米中重金属污染特征及健康风险评价

以西南某铅锌矿区为研究区域,测定了92份玉米样品中Pb、Zn、Cd、Cr和Ni的含量,开展了矿区玉米籽粒中重金属污染特征及健康风险研究.应用单因子污染指数和内梅罗综合污染指数分析了重金属在玉米中的污染状况,采用健康风险评价模型评价了重金属对人体健康造成的风险,同时利用主成分分析法解析了重金属的主要来源.结果表明,玉米籽粒中Pb、Zn、Cd、Cr和Ni的平均含量分别为0.30、23.75、0.21、1.33和1.15 mg ·kg^-1;除重金属Zn外,其他4种重金属均超过我国食品卫生标准限值,研究区玉米籽粒中Pb、Cd、Cr和Ni的综合污染指数范围介于4.32~9.07之间,均属于重度污染,Zn的综合污染指数小于1;重金属通过玉米籽粒摄入引起的复合重金属污染对成人和儿童均存在健康风险,且对儿童造成的健康风险高于成人.玉米籽粒中5种重金属可以由2个主成分来反映,第一主成分主要支配Pb、Cd、Cr和Ni的来源,第二主成分支配Zn的来源.玉米籽粒重金属含量与土壤重金属含量之间没有明显相关性.     

UASB启动运行特征及互营丙酸氧化菌定量分析

为揭示升流式厌氧污泥床（UASB）反应器启动运行效能与互营丙酸降解菌群数量之间的关系,以稀释的玉米淀粉生产废水为底物,考察了UASB启动期的运行特征,并采用实时荧光定量PCR技术（qPCR）分析了互营丙酸降解菌群（丙酸氧化菌和产甲烷菌）的演替规律.结果表明,在进水COD 2000mg/L和水力停留时间（HRT）24h条件下,经过38d的连续运行,COD去除率达到了91.9%.当HRT分阶段缩短至8h时,比产甲烷速率达到了315LCH₄/（kg COD·d）,且形成了沉降性能良好的颗粒污泥.qPCR检测结果表明,至少有5种已鉴定的丙酸氧化菌存在于UASB反应器中.Pelotomaculum propionicum为接种污泥中的主要丙酸氧化菌,约占检测到丙酸氧化菌总数的45.7%.它的数量随着HRT缩短不断减少.而Syntrophobacter sulfatireducens和S.wolinii的数量随着HRT缩短不断增加,并在启动完成时达到最大值,分别为1.3×10³,5.5×10³个16S rRNA基因拷贝数/ng DNA,演替成为成熟颗粒污泥中的优势丙酸氧化菌群.Methanobacterium和Methanosarcina为接种污泥中的主要氢营养型产甲烷菌和乙酸营养型产甲烷菌,其数量随着HRT的缩短而逐渐减少,而Methanospirillum和Methanosaeta的数量随HRT的缩短逐渐增加,成为成熟颗粒污泥中的优势产甲烷菌群.     

青铜峡铝厂氟污染对广武乡玉米影响的调查分析

监测了青铜峡铝厂东南方向４．５ｋｍ的广武乡玉米叶，得知含氟量为４３．９４－１６６．１ｍｇ／ｋｇ，对照样品树新林场玉米叶的含氟均值为１３．１５ｍｇ／ｋｇ，广武乡的玉米受到了严重的氟污染，农作物减产严重。     

Atrazine and Alachlor Inputs to Surface and Ground Waters in Irrigated Corn Cultivation Areas of Castilla-Leon Region, Spain

The inputs of atrazine and alachlor herbicides to surface and ground waters from irrigated areas dedicated to corn cultivation in the Castilla-León (C-L) region (Spain) as related to the application of both herbicides were studied. Enzyme-linked immunosorbent assays (ELISA) were used for monitoring the atrazine and alachlor concentrations in 98 water samples taken from these areas. Seventy-nine of the samples were of ground waters and 19 were of surface waters. The concentration ranges of the herbicides detected in the study period (October 1997–October 1998) were 0.04–25.3 g L^–1 in the surface waters and 0.04–3.45 g L^–1 in the ground waters for atrazine, and 0.06–31.9 g L^–1 in the surface waters and 0.05–4.85 g L^–1 in the ground waters in the case of alachlor. The highly significant correlation observed between the concentrations of both herbicides in the surface waters (r = 0.89, p < 0.001) pointed to a parallel transport of atrazine and alachlor to these waters. A study was made of the temporal evolution of the concentrations of both herbicides, and it was found a maximum recharge of atrazine in the ground waters for April 1998 and of alachlor in October 1997 and October 1998. The temporal evolution of the concentrations of both herbicides in surface waters was parallel. The highly significant correlations observed between atrazine concentrations determined by ELISA and by HPLC (r = 0.92, p < 0.001) and between alachlor concentrations also determined by both methods (r = 0.96, p < 0.001) confirmed the usefulness of ELISA for monitoring both herbicides in an elevated number of samples. Using HPLC, the presence in some waters of the alachlor ethanesulfonate (ESA) metabolite was found at a concentration range of 0.52–4.01 g L^–1. However the interference of ESA in the determination of alachlor by ELISA was negligible. The inputs of atrazine and alachlor to waters found in this study, especially the inputs to ground waters, could pose a risk for human health considering that some waters, though sporadically, are even used for human consumption.     

省域生态环境质量动态评价及差异研究

以2010~2015年30个省域为研究对象，采用“驱动力-压力-状态-影响-响应”框架构建评价指标体系，运用逐层纵横向拉开档次法确定指标权重，运用“时间度”和“熵值”法确定时间权重，构建TOWA-GA混合算子生态环境质量动态评价模型.结果表明：6a来，30个省域生态环境质量总体均值为0.837，整体呈好转趋势，但省域间差异明显.通过Theil指数分析发现，省域间总体差异下降了15.91%，人口密度和人口自然增长率是省域间差异的主要影响因素.     

鄂西的硒资源及其开发战略研究

湖北省西南部有二叠系茅口组富硒碳质硅质岩和碳质页岩广泛出露。岩石、土壤和富硒土壤上生长的玉米含硒量最高分别达到8.390、354和40(mg/kg)。作者对这一硒资源的价值进行了评估,并对其开发战略进行了探讨。     

Maize: The Native North American’s Legacy of Cultural Diversity and Biodiversity

Recent research has focused on establishing the values of preserving biodiversity both in agriculture and in less managed ecosystems, and in showing the importance of the role of cultural diversity in preserving biodiversity in food production systems. A study of the philosophy embedded in cultural systems can reveal the importance of the technological information for preserving genetic biodiversity contained in such systems and can be used to support arguments for the protection/preservation of cultural diversity. For example, corn or maize can serve as a paradigm of Native American thinking and can provide one of the few areas from which common philosophical conceptions can emerge. An examination of the cultivation of corn or maize as an agricultural activity and as a cultural activity in Native American literature reveals a philosophy that recognizes the importance of biodiversity and provides techniques for its preservation. Corn, and the food and the materials derived from it, is something thought out, not by specialists, but by the entire tribe and its ancestors, even if this thinking is done within what we might consider a framework of highly mythical notions. Importantly, this framework yields an understanding of both the genetics and nutrition of corn. A survey of these mythical notions (myths and stories) and agricultural practices makes this thought explicit and exemplifies the value of cultural diversity and biodiversity.     

厌氧-准好氧联合型生物反应器填埋场产气规律的研究

通过将厌氧型生物反应器填埋场（ANBL）和准好氧矿化垃圾生物反应床（SAARB）串联,组成新型的厌氧-准好氧联合型生物反应器填埋场（AN-SABL）,研究其产气速率、产气量以及产气组分的变化规律,以期为填埋气体的收集、利用和处理提供理论依据.实验表明,AN-SABL中的厌氧填埋单元的产气受到了抑制,其中ANBL2号单元和ANBL3号单元的产气率分别为49 L.kg-1和39 L.kg-1,仅占ANBL1号的94.2%和75.0%,但提高回灌频率,能促进厌氧填埋单元的产气,其甲烷含量最大值可达到62.67%;ANBL夏季产气速率和产气量明显高于冬季,并以12 h为周期交替出现产气高峰;此外,AN-SABL能够促进其厌氧单元的硝化和反硝化作用,N2O的含量受季节和填埋场类型影响显著,其变化范围在0.001 7%～4.017 9%之间.ANBL的累积产气量在初始调整阶段呈对数增长,过渡酸化阶段呈线性增长,酸化产甲烷阶段呈指数增长.     

玉米干旱等级划分及气象产量评估方法

分别以(玉米年雨量平均值±0.5倍标准差)和(平均值±1.5倍标准差)界定不同等级的干旱年份,分析了干旱年对玉米产量的影响,通过对玉米生育期气象条件的分析,建立了玉米气象产量评估方程。