Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

近期和长远时段内北极生态系统结构受到的影响

生物在物种水平上对全球气候变暖和紫外线B(UV-B)辐射增强的反应受到其群落内其他物种以及生态系统内养分循环的调节,所有的这些反应将会导致生态系统结构的变化.根据高纬度地区坏境因子的可能变化而做的控制试验表明,由夏季变暖而引起苔原植被的变化要小于增加施肥而引起的变化,试验涉及的某些环境因子对北极生态系统的结构有非常强烈地影响,但是这些影响因地区而异,观测结果表明,处于最寒冷地区的植物群落和无脊椎动物群落对全球气候变暖和紫外线B辐射的增强反应最为强烈.尽管微生物量和养分储存量相对稳定,北极无脊椎动物群落还是很可能会对全球变暖产生迅速的反应.试验结果显示,加强紫外线B辐射会改变革兰氏阴性细菌和真菌的群落组成结构,但不会对植物群落的组成产生影响.由夏季气温升高而提高的植物生产力将会控制食物网的动态变化,以苔原植被和亚极地森林植物为基础的食物网中的营养流动会明显地影响到几种优势动物种群数量的周期性波动,在某些年分这些动物的种群数量会达到峰值.小型啮齿动物和食叶昆虫如秋毛虫种群数量的周期性变化则会影响苔原和森林苔原植物的组成结构和多样性,同时也会影响到一些专性捕食者和寄生虫的变化.在暖冬,雪表形成冰壳可能会减少旅鼠的植物食物来源,然而较深的雪也可以使它们免受雪地表面上捕食者对它们的捕食.在芬诺斯堪的亚地区,已有证据表明小型啮齿类动物群落结构和种群动态的显著变化会导致专门以小型啮齿类动物为食物的捕食者的数量减少.气候还可能改变昆虫在白桦森林生态系统中的作用,因为暖冬可以增加这些昆虫卵的成活率,并且扩大其分布范围.此外,在夏季困扰驯鹿的昆虫会由于夏季气候的变暖而扩大其分布范围、增加种群数量并且种群更为活跃;同时在另一方面也会对驯鹿不利,即那些昔日驯鹿/北美驯鹿的避难场所--冰川和未融的成片的雪--在这样温暖的夏季则可能会消失.     

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

The influence of source and timing of nitrogen fertilizers on yield and nitrogen use efficiency of four sweet potato cultivars

Nitrogen (N) availability is a very important determinant of crop yield. It is also one of the most expensive inputs in crop production. Thus, the efficient management of N by farmers with limited resource is a very important part of successful soil and crop management system. A field study was conducted on a Norfolk sandy loam soil at the George Washington Carver Agricultural Experiment Station, Tuskegee, AL, to evaluate the influence of fertilizer source and timing on the yield of four sweet potato [Ipomoea batatas (L.)] cultivars. Two N sources (urea, CO(NH₂)₂ and ammonium nitrate, NH₄NO₃), four sweet potato cultivars (‘Georgia Jet’, GA-Jet; ‘TU-82-155’, TU-155; ‘TU-1892’; and ‘Rojo Blanco’, Rojo-Bl) and three times (zero, single, and split applications) were used in a factorial designed experiment. Plants were harvested after 80 and 120 days and total and marketable yields determined. Nitrogen recovery efficiency, yield efficiency and physiological efficiency were also determined. Total and marketable yields of early maturing cultivars were significantly higher than of late maturing cultivars (P<0.05). The single application of N resulted in significantly higher yield in storage roots than split application (P<0.05). Physiological efficiency values were highly correlated with total marketable yields. Recovery rates increased with time. Late maturing cultivars tended to have higher N recovery and physiological efficiency than early maturing cultivars. These results suggest that cultivar maturity group should play an important part in N fertilization recommendations for sweet potato.     

Profitability of intensification technologies among smallholder maize farmers in the forest-savanna transition zone of Nigeria

Sustaining the productive capacity of the land resource under the existing land-use system and increasing population pressure requires the use of appropriate technologies that will enhance farm productivity and income levels.This paper examines the effect on farm profitability of smallholder maize farmers’ use of intensification technologies in tropical agriculture. The survey was conducted in southwest Nigeria. A multi-stage sampling technique was used to select 300 respondents from two major agroclimatic zones in Osun State. Primary data were collected using a structured questionnaire and complemented with focus group discussions (FGDs), while the State’s Ministry of Agriculture provided secondary data.Pressure on land was found high because farmland was continuously cropped for an average of 10 years with a mean fallow period of 2 years only. Technologies used to intensify agriculture included inorganic fertilizer, organic manure, alley cropping, and tree planting.Results from costs and returns analysis showed that average net returns to inorganic fertilizer use ranked highest in the two zones, while tree planting ranked lowest. There was a significant ecoregional difference on the average net returns/year earned by users of mineral fertilizer. While organic manure use earned higher net returns than alley cropping practice in the rain forest, the reverse was the case for the derived savanna. FGDs revealed that respondents’ preferred to use inorganic fertilizer despite its inadequate supply because, apart from enhancing higher returns and net gains, it also improved output level and provided an opportunity for the continuous use of the scarce land.These results imply that economic returns play a critical role in farmers’ use of intensification technologies and consequently affect their resource management decisions. Policy measures aimed at promoting research on appropriate technologies that are profitable on farmers’ fields will be more effective in enhancing farmers’ use of intensification technologies.     

Groundwater pollution due to discharge of tannery effluents in Upper Palar basin, Tamilnadu, India: an assessment through mass transport modeling

The groundwater regime in Upper Palar basin, Tamilnadu has been highly contaminated in several locations due to discharge of effluents from a large number of tanneries. At some places total dissolved solids (TDS) concentration in groundwater was found as high as 8000 mg/l. Transmissivity and storativity of the regional aquifer were estimated at a few locations. The porosity and dispersivity values were not determined in the field. These parameters were assumed based on data available for similar geological formations elsewhere. The aquifer conceptualization thus arrived at formed the basis of a numerical groundwater flow model which was constructed using the finite difference method. The flow model was calibrated for steady state and then for transient condition for the period of 1984-92. The computed heads and calibrated parameters of the flow model were used to compute groundwater velocities. The migration of contaminants for a 20 year period was computed using the hydraulic heads and effective porosity value in a pathline model using FLOWPATH software. Mass transport model was constructed using Method of Characteristics (MOC) computer code in a separate model. The seepage rate of effluent is assumed at a rate of 30% of that discharged on the surface. The mass concentration of solute in the effluent reaching the water table was assumed as 40%, the same as in the surface effluent. The mass transport model was calibrated for a 20 year period. Prediction of contaminant migration from different clusters in the basin was analyzed. The prediction results indicated elevated TDS concentration of more than 4000 mg/l from most clusters. Also the area of the contaminated zone is likely to double in 20 years from contaminated zone of 1992.