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T. Antoniadi C. Yapijakis P. Kaminopetros C. Makatsoris V. Velissariou D. Vassilopoulos M. B. Petersen 《黑龙江环境通报》2002,22(5):425-429
The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
958.
Spatio‐Temporal Patterns of Open Surface Water in the Central Valley of California 2000‐2011: Drought,Land Cover,and Waterbirds
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This research was supported by a grant from the National Council for Research and Development, Israel, and the KFK, Karlsruhe, Germany. 相似文献
960.
Christopher Wood Ben Dipper Carys Jones 《Journal of Environmental Planning and Management》2000,43(1):23-47
This paper presents the results from a post-auditing study-a comparison of the predictions of environmental impacts of projects made in environmental statements prior to developmentwith those that actually occurred upon or after development. The purpose of post-auditing is to provide an analysis of prediction performance in environmental impact assessment and thus to improve future practice by learning from experience. By means of a combination of site visits, interviews and document scrutiny, 865 predictions from 28 UK projects granted planning permission were examined. Of these, 488 (56%) were auditable, of which 383 (79%) were deemed 'accurate' or 'nearly accurate' and 105 (21%) 'inaccurate'. The remaining 377 (44%) predictions were not auditable, the main reasons being lack of data, vague or ambiguous predictions and time dependency.There were only six unpredicted impacts. The study reveals some encouraging findings, but also a number of discouraging ones, which indicate the need to increase both enthusiasm for, and implementationof, post-auditing activities. Several suggestions are made to help achieve these objectives. 相似文献