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.     

Body fluid analog chlorination: Application to the determination of disinfection byproduct formation kinetics in swimming pool water

Disinfection by-products(DBPs) are formed in swimming pools by the reactions of bather inputs with the disinfectant.Although a wide range of molecules has been identified within DBPs,only few kinetic rates have been reported.This study investigates the kinetics of chlorine consumption,chloroform formation and dichloroacetonitrile formation caused by human releases.Since the flux and main components of human inputs have been determined and formalized through Body Fluid Analogs(BFAs),it is possible to model the DBPs formation kinetics by studying a limited number of precursor molecules.For each parameter the individual contributions of BFA components have been quantified and kinetic rates have been determined,based on reaction mechanisms proposed in the literature.With a molar consumption of 4 mol Cl_2/mol,urea is confirmed as the major chlorine consumer in the BFA because of its high concentration in human releases.The higher reactivity of ammonia is however highlighted.Citric acid is responsible for most of the chloroform produced during BFA chlorination.Chloroform formation is relatively slow with a limiting rate constant determined at 5.50 × 10~(-3) L/mol/sec.L-histidine is the only precursor for dichloroacetonitrile in the BFA.This DBP is rapidly formed and its degradation by hydrolysis and by reaction with hypochlorite shortens its lifetime in the basin.Reaction rates of dichloroacetonitrile formation by L-histidine chlorination have been established based on the latest chlorination mechanisms proposed.Moreover,this study shows that the reactivity toward chlorine differs whether L-histidine is isolated or mixed with BFA components.     

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.     

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.     

南方涝渍地区退田还渔的一个实例分析

以江汉平原四湖涝渍地区的一个经围湖造田形成的典型农业微域为研究对象,在对其土壤和作物生长状况进行调查的基础上,探讨了退田还渔的必要性与具体方案。结果表明,对小型湖泊通过围湖造田所形成的农业微域,在人工排水和土地平整不充分的情况下,其地貌和土壤还残留有原有湖泊的影响,处于原湖泊低处的土壤表现出明显的沼泽化和严重潜育化的特征。在该地区种植水稻产量比正常地区减产达16%～26.8%。利用数量化理论Ⅰ确定了该地区适宜退田还渔的具体位置和面积。按照这一方案实施的结果,该地区从1997～2001年的5年中精养鱼塘面积增加9倍,养鱼的效益比种植水稻高5～10倍,还减轻了该地区夏季和冬季的排水压力。     

假单胞杆菌抗镉基因的克隆

以pBR322为载体,将抗镉的假单胞杆菌R4染色体的抗镉基因克隆至大肠杆菌HB101,从5000个重组体中筛选出一株抗镉基因克隆株,命名为大肠杆菌HB101(pBC311)。重组质粒pBC311经PstⅠ酶解和琼脂糖凝胶电泳证实抗镉基因位于3.6kb长的PstⅠ片段上。克隆菌株可在含100μg/ml CdCl_2的L-肉汤中生长,其生长停滞期比受体大肠杆菌HB101短得多,说明克隆菌株含有抗镉基因。