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.     

不同浓度锌处理下水稻幼苗对镉的累积效应

为探究锌（Zn）对水稻镉（Cd）累积的影响及其根表铁膜所发挥的作用,选取Cd高累积型水稻品种中9优547（简称"Z547"）和Cd低累积型水稻品种金优402（简称"J402"）,采用温室水培试验,研究0、2、5、10、15和20 μmol/L等6个Zn浓度下水稻幼苗对Cd的累积效应,以及不同浓度Zn处理对根表铁膜生成量的影响.结果表明:①随着c（Zn）的增加,Z547和J402水稻幼苗生物量均呈先增后减的趋势,分别在c（Zn）为2和10 μmol/L时达到最大值.②Z547和J402水稻幼苗中w（Cd）均呈先降后增的趋势,分别在c（Zn）为5和2 μmol/L时达到最小值;当水稻幼苗中w（Cd）达到最小值时,Z547根和地上部中w（Cd）分别为31.65和11.47 mg/kg,J402根和地上部中w（Cd）分别为22.58和14.36 mg/kg.③不同浓度Zn处理下水稻幼苗各部位中w（Cd）均与根表铁膜中w（Mn）、w（Fe）、w（Fe+Mn）呈显著正相关,高铁膜处理水稻幼苗中w（Cd）显著高于低铁膜处理,表明根表铁膜生成量的增加会促进Cd在水稻幼苗中的累积.研究显示,当c（Zn）较低时,c（Zn）的增加会抑制水稻幼苗对Cd的累积;当c（Zn）较高时,c（Zn）的增加会促进水稻幼苗对Cd的累积,而Zn可通过控制根表铁膜的生成来影响水稻幼苗对Cd的累积.      

组配改良剂联合硅肥对Cd污染稻田的修复效果

选取湖南省浏阳市某Cd污染稻田进行田间试验,研究组配改良剂石灰石+海泡石（LS）、基施硅肥及叶面喷施硅肥对Cd污染稻田修复效果,结果表明：（1）基施硅肥90kg/hm²和叶面喷施硅肥（0.2,0.4g/L）对土壤pH值无明显影响,添加LS（2250,4500kg/hm²）的各处理均显著提高土壤pH值（P < 0.05）.（2）基施硅肥90kg/hm²分别降低土壤交换态、毒性特征浸出（TCLP）提取态Cd含量20.0%和18.5%,叶面喷施硅肥对土壤Cd两种提取态含量无明显影响,添加LS的各处理（2250,4500kg/hm²）分别使土壤交换态、TCLP提取态Cd含量降低25.8%~49.9%、26.4%~44.5%.（3）3种单一技术措施均能明显降低水稻各部位Cd含量,但降低糙米中Cd含量的效果低于3种技术措施的组合处理;“组配改良剂LS+基施硅肥+叶面喷施硅肥”各处理（JL1F1、JL1F2、JL2F1、JL2F2）使水稻糙米中Cd含量降低25.6%~70.5%.（4）“组配改良剂LS+基施硅肥+叶面喷施硅肥”的组合技术处理能显著降低土壤中Cd的有效性,显著降低水稻各部位中Cd含量,其中JL2F2处理效果最佳,能使对照糙米Cd含量从0.66mg/kg降低到0.19mg/kg,实现中重度Cd污染稻田的水稻安全生产.     

不同裂解温度稻壳生物炭对阿特拉津的吸附行为及机制

为探究不同裂解温度下稻壳生物炭的结构和性质差异及其对阿特拉津（AT）的吸附作用机制和构-效关系,以稻壳为原料在300、500和700℃下制备稻壳生物炭（分别记为RH300、RH500、RH700）,通过电镜扫描、元素分析仪、比表面积分析仪和傅里叶变换红外光谱分析仪等对3种稻壳生物炭进行结构表征分析,并采用批量等温吸附法研究稻壳生物炭对AT的吸附特性.结果表明:裂解温度由300℃升至700℃时,稻壳生物炭中w（C）由48.81%升至64.67%,w（H）、w（N）和w（O）则由3.22%、1.45%和34.66%分别降至0.89%、0.92%和16.29%,原子比H/C、O/C和（O+N）/C值均降低.可见,随着裂解温度升高,稻壳生物炭的芳香性增强,亲水性和极性降低,且比表面积和孔体积增大,平均孔径减小.3种稻壳生物炭对AT的吸附均可用Freundlich和Langmuir两种等温吸附模型进行较好地拟合（R≥0.948,P < 0.01）,吸附作用及非线性程度与生物炭的比表面积（SSA）、芳香性（H/C）、亲水性（O/C）和极性〔（O+N）/C〕呈良好的指数关系,大小表现为RH700 > RH500 > RH300.稻壳生物炭对AT的吸附机制主要包括分配作用和表面吸附,分配作用强度与生物炭的极性和炭化程度有关;而表面吸附作用与AT的分子大小有关,3种稻壳生物炭对AT的表面吸附除表面覆盖外,还存在多层平铺、毛细管现象和孔隙填充等.研究显示,裂解温度是影响生物炭吸附有机污染物的重要因素,在综合考虑成本和制备工艺的同时,适当提高裂解温度可增强生物炭对有机污染物的吸附作用.      

Soil properties and crop productivity as influenced by flyash incorporation in soil

Field experiments were carried out during 1996–97at Gulawathi, Muthiani and Salarpur Villages, IARI Farm, NewDelhi and NCPP Campus, Dadri to evaluate changes in soilcharacteristics and growth of wheat (Triticum aestivum L.),mustard (Brassica juncea L.), lentil (Lence esculentaMoench.), rice (Oryza sativa L.) and maize (Zea mays L.) byvarying amounts of flyash addition (up to 50t ha^-1) in soils atsowing/transplanting time of crops. Flyash addition in areasadjoining NCPP Thermal Power Plant, Dadri, Ghaziabad, U.P.ranged from 5–12 t ha^-1 yr^-1 in 1995–96. Shoot and root growthand yield of test crops at different locations after flyashincorporation resulted in beneficial effects of flyashaddition in most cases. The silt dominant texture of flyashimproved loamy sand to sandy loam textures of the surfacesoils at the farmers' fields. The increased growth in yield ofcrops with flyash incorporation was possibly due tomodifications in soil moisture retention and transmissioncharacteristics, bulk density, physico-chemical characterssuch as pH and EC and organic carbon content. The response offlyash addition in the soil on soil health and cropproductivity needs to be evaluated on long-term sustainableaspects.     

Methane emission in a rice field of Thailand

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氚水在模拟水稻田中的消长动力学(续)

对进入水稻田中的氚水在连作晚稻阶段的迁移，输运动态过程的研究表明，滞留于早稻田中的氚水继续为晚稻摄取；与早稻情况一样，氚水中的氚仍以自由水氚和结合氚形式滞留在晚稻田各分室中，晚稻田水中和土肿的氚浓度均随时间单调地减少；晚稻地上部及根中的自由水氚及结合态氚浓度在采样期间也基本上随时间降低。     

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.     

萝北县矿山企业的环境问题与整治对策

萝北县矿产资源丰富,矿山开采遍布北部山区,对环境造成一定的破坏.本文分析了环境破坏的原因,提出了整治对策.     

氚水在模拟水稻田中的消长动力学

氚水在模拟水稻田中迁移，输运动态过程的研究表明，引入田水氚水，不仅在系统各隔室间转移和分配，而且也向系统外迅速地散逸，氚水的氚以自由水氚和结合态氚形式存在下水稻和土壤中，水稻地上部中自由水氚浓度开始增大，至第８天达最大值后便下降，而结合态氚基本上呈增中趋势，稻根中氚浓度低下地上部，表层土中二种形态氚随时间的变化与水稻植株中情况类似。