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.     

气体中毒窒息事故的环境应急监测

以株洲市攸县某矿业公司"5·7"重大中毒窒息事故的环境应急监测为例，详细阐述了该事故开展应急监测的全过程。针对锁定污染因子、查找污染源、判断污染团的扩散趋势以及监控敏感点的安全等监测目的设计监测方案。通过监测数据分析确定事故特征因子为CO，其周边环境空气中浓度随着与抽风口距离的增加而快速下降，监测到附近居民区环境空气质量未受事故影响。     

江汉湖沼资源的开发与保护

湖沼是重要的自然资源,是开发水体生态农业以及发展轻化工业原材料的生产基地保护湖沼资源不但能调控环境,且可成为天然水生或沼生生物基因库。对江汉湖沼资源的合理开发利用,既能收到巨大经济效益,又可保护湖沼生态环境和发挥其生态效益作用。     

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.     

任意风向时的线源扩散模式研究

给出了一个适用于风向与公路成任意夹角的有限长线源的扩散模式;讨论了不同风向、线源长度等,对线源中心下风距离的污染物地面浓度的影响;并将这个模式与CALINE-2模式和风洞试验结果进行了比较。     

湿法烟气脱硫应用中的几个问题探讨

对火电厂应用石灰石 石膏法烟气脱硫中遇到的几个实际问题进行分析和讨论 ,重点讨论分析了湿法烟气脱硫和烟气温度、烟气抬升高度、烟气扩散的关系 ,并分析了湿法烟气脱硫对烟囱产生的腐蚀影响