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.     

Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.     

四环素胁迫对Shigella flexneri细菌四环素抗性基因抗性表达的影响过程

四环素(TC)抗生素在不同环境介质中已被广泛检出,为研究其对四环素抗性基因(TC-ARGs)丰度变化及表达水平的影响过程,以从活性污泥中筛选和纯化分离获得的弗氏志贺氏菌(Shigella flexneri)为研究对象,考察了不同浓度TC对其生长过程的作用影响,采用荧光定量PCR和逆转录PCR方法定量检测了不同抗性机制TC-ARGs,包括tetC、tetO和tetX基因的丰度变化及表达水平,并探讨了TC浓度与TC-ARGs丰度及其表达水平之间的相关关系.结果表明,在培养周期内(24 h),TC胁迫对Shigella flexneri细菌的生长具有抑制作用,细菌细胞浓度增长速率随TC暴露浓度的升高而降低,但对TC-ARGs丰度变化影响较小.TC胁迫能够促进Shigella flexneri细菌TC-ARGs的转录表达,tetC、tetO和tetX基因表达水平在整个培养周期内均先升高后降低.由相关性分析可知,TC浓度与TC-ARGs丰度及其表达水平之间相关关系不显著,但tetC和tetO基因丰度与其转录表达水平之间存在显著的正相关关系,表明其基因丰度一定程度上可用来衡量和评价其抗性表达水平.     

Risk-Based Prioritization of Air Pollution Monitoring Using Fuzzy Synthetic Evaluation Technique

Air pollution monitoring programs aim to monitor pollutants and their probable adverse effects at various locations over concerned area. Either sensitivity of receptors/location or concentration of pollutants is used for prioritizing the monitoring locations. The exposure-based approach prioritizes the monitoring locations based on population density and/or location sensitivity. The hazard-based approach prioritizes the monitoring locations using intensity (concentrations) of air pollutants at various locations. Exposure and hazard-based approaches focus on frequency (probability of occurrence) and potential hazard (consequence of damage), respectively. Adverse effects should be measured only if receptors are exposed to these air pollutants. The existing methods of monitoring location prioritization do not consider both factors (hazard and exposure) at a time. Towards this, a risk-based approach has been proposed which combines both factors: exposure frequency (probability of occurrence/exposure) and potential hazard (consequence).This paper discusses the use of fuzzy synthetic evaluation technique in risk computation and prioritization of air pollution monitoring locations. To demonstrate the application, common air pollutants like CO, NO_x, PM₁₀ and SO_x are used as hazard parameters. Fuzzy evaluation matrices for hazard parameters are established for different locations in the area. Similarly, fuzzy evaluation matrices for exposure parameters: population density, location and population sensitivity are also developed. Subsequently, fuzzy risk is determined at these locations using fuzzy compositional rules. Finally, these locations are prioritized based on defuzzified risk (crisp value of risk, defined as risk score) and the five most important monitoring locations are identified (out of 35 potential locations). These locations differ from the existing monitoring locations.     

Monitoring of Seasonal Vegetables for Pesticide Residues

Market samples (60) of six seasonal vegetables were monitoredduring 1996–1997 to determine the magnitude of pesticidalcontamination. The estimation of insecticide residuesrepresenting four major chemical groups i.e. organochlorine,organophosphorous, synthetic pyrethroid and carbamate, was doneby adopting a multiresidue analytical technique employingGC-ECD and GC-NPD systems with capillary columns. The testedsamples showed 100% contamination with low but measurableamounts of residues. Among the four chemical groups, theorganophosphates were dominant followed by organochlorines,synthetic pyrethroids and carbamates. About 23% of the samplesshowed contamination with organophosphorous compounds abovetheir respective MRL values. More extensive studies coveringdifferent regions of Haryana state are suggested to get a clearidea of the magnitude of vegetable contamination with pesticideresidues.     

森林合理年伐量分析确定方法研究

森林合理年伐分析确定是年森林采伐限额编制的关键技术之一,也是森林经理学的重要内容之一。本文从森林永续利用理论出发,以消长比度、成熟林采伐度、龄级结构改善度、流量均衡度、需要满足度５个指标建立了分析确定的综合评价模型,提出了森林合理年伐量分析确定的精确化方法,从而有效地保证了结果的科学性和准确性。     

农作物品种单一化的影响

绿色革命是人与自然关系的产物--集约型农业与高产农业的一大壮举.但绿色革命带来的负面影响也是巨大的,主要是农作物品种单一化引起的农业种质资源的减少和农业生态系统的脆弱.本文就绿色革命的这一负面影响进行阐述并提出对策.     

合成氨装置重点部位的安全管理及防范措施

对安庆分公司化肥厂合成氨装置 4年以来的运行及安全管理情况作了综述 . 对装置的重点 监督部位加强技术型管理 , 并实行了一系列行之有效的安全防范措施 , 使之达到了国内同类 型装置先进水平 .