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121.
M. Rifé J. Mallolas C. Badenas B. Tazón M. Rodríguez Miguélez T. Pàmpols A. Sànchez M. Milà 《黑龙江环境通报》2002,22(6):459-462
An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
122.
123.
Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20–22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C→T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
124.
教育与区域经济发展差异--基于江苏和江西的实证分析 总被引:7,自引:0,他引:7
本文主要分析了教育对于区域经济发展差异的影响及作用机理。通过对江苏和江西两省的实证分析,提出并验证了教育发晨所引起的地区经济发展的差异,主要有两个方面共同作用的结果:即教育总体发展程度不同所产生的规模效应和不同教育层次发晨的侧重差异所引起的结构效应。最后。对今后区域教育发展战略的进一步完善提出了政策建议。 相似文献
125.
We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
126.
A. Milunsky C. Konialis S. H. Shim T. A. Maher K. Spengos M. Ito C. Pangalos 《黑龙江环境通报》2005,25(11):1057-1058
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
127.
Prioritization for Conservation of Northern European Cattle Breeds Based on Analysis of Microsatellite Data 总被引:2,自引:0,他引:2
128.
Nitrogen deposition alters soil chemical properties and bacterial communities in the Inner Mongolia grassland 总被引:1,自引:0,他引:1
Nitrogen deposition has dramatically altered biodiversity and ecosystem functioning on the earth; however, its effects on soil bacterial community and the underlying mechanisms of these effects have not been thoroughly examined. Changes in ecosystems caused by nitrogen deposition have traditionally been attributed to increased nitrogen content. In fact, nitrogen deposition not only leads to increased soil total N content, but also changes in the NH4+-N content, NO3--N content and pH, as well as changes in the heterogeneity of the four indexes. The soil indexes for these four factors, their heterogeneity and even the plant community might be routes through which nitrogen deposition alters the bacterial community. Here, we describe a 6-year nitrogen addition experiment conducted in a typical steppe ecosystem to investigate the ecological mechanism by which nitrogen deposition alters bacterial abundance, diversity and composition. We found that various characteristics of the bacterial community were explained by different environmental factors. Nitrogen deposition decreased bacterial abundance that is positively related to soil pH value. In addition, nitrogen addition decreased bacterial diversity, which is negatively related to soil total N content and positively related to soil NO3--N heterogeneity. Finally, nitrogen addition altered bacterial composition that is significantly related to soil NH4+-N content. Although nitrogen deposition significantly altered plant biomass, diversity and composition, these characteristics of plant community did not have a significant impact on processes of nitrogen deposition that led to alterations in bacterial abundance, diversity and composition. Therefore, more sensitive molecular technologies should be adopted to detect the subtle shifts of microbial community structure induced by the changes of plant community upon nitrogen deposition. 相似文献
129.
从实验室保存的高效好氧反硝化菌种中筛选得到一株抗汞细菌并命名为X1,经生理生化特性和16SrRNA基因序列分析,初步鉴定该菌为恶臭假单胞菌(Pseudomonasputida).对菌株X1进行Hg2适应特性研究,结果表明,对于Hg2浓度为2、67++4、、mg·L-1的实验组,菌体分别需要被延滞12、284018、、h后进入对数期,而8mg·L-1实验组则不能进入对数期;在好氧反硝化过程中,Hg2浓度在7mg·L+-1范围内各实验组的好氧反硝化过程中NO3-N浓度变化速率、NO2-N累积峰值、pH特征点出现时刻随着Hg2浓度的增大而增大(延迟),而Hg2浓度呈现出同硝氮一致的下降趋势,并且在对数期内除汞率能达到100%.研究表明,菌株X1对Hg2最大适宜耐受浓度为7mg·L+-1,相应适应时间约为40h.在最大耐受浓度范围内,菌株X1的生长和好氧反硝化过程呈现出"被抑制-适应-受刺激"的变化规律,其中,被抑制的时间和受刺激的程度都随着Hg2浓度的增大而增大,主要表现为延滞期的延长和对数期的缩短.此外,在对数期,菌株X1的生长速率、达到稳定期的浓度和好+氧反硝化速率也都随着Hg2浓度的增大而增大,且大于无Hg2菌组.++ 相似文献
130.
梯度负荷下果蔬垃圾厌氧消化性能及微生物群落结构的研究 总被引:4,自引:0,他引:4
为优化果蔬垃圾厌氧消化工艺,提高厌氧消化性能,本文通过逐级提高CSTR反应器进料负荷,研究不同负荷下的厌氧消化性能及相应的微生物群落结构变化规律.结果表明,随着进料负荷的增高,容积产气率、甲烷产气量、氨氮、碱度、TCOD、SCOD均逐渐增高,在最高负荷(负荷以VS计)2.50g·L-·1d-1时分别达到最大值:1.22L·L-1d-1,5.10L·d-1,1563.86mg·L-1,7572.23mg·L-1,13283.26mg·L-1,2075.03mg·L-1,甲烷含量及VFA分别稳定在52.46%~54.59%和(879.30±18.69)mg·L-1;同时利用PCR-DGGE技术系统分析了厌氧消化中细菌与古细菌的群落结构,测序结果表明,整个过程中拟杆菌(Bacteroidetes)、甲烷鬃菌(Methanosaeta)及甲烷螺菌(Methanospirillum)为优势微生物,随着负荷的提高,甲烷鬃毛菌(Methanosaeta)活性逐渐降低;聚类分析及主成分分析表明,低负荷条件下(1.50g·L-·1d-1、1.75g·L-·1d-1),微生物种类(细菌、古细菌)差别不明显,且基本处于同一阶段. 相似文献