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This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.  相似文献   
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Sciurus carolinensis ) have been labor intensive and costly, I demonstrate the use of line transect surveys to estimate gray squirrel density and determine the costs of conducting surveys to achieve precise estimates. Density estimates are based on four transects that were surveyed five times from 30 June to 9 July 1994. Using the program DISTANCE, I estimated there were 4.7 (95% CI = 1.86–11.92) gray squirrels/ha on the Clemson University campus. Eleven additional surveys would have decreased the percent coefficient of variation from 30% to 20% and would have cost approximately $114. Estimating urban gray squirrel density using line transect surveys is cost effective and can provide unbiased estimates of density, provided that none of the assumptions of distance sampling theory are violated.  相似文献   
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• Pig feces is the predominant excrement produced by animal husbandry in China. • The PF, Pig-1-BacTaqMan, and Pig-2-BacTaqMan MST assays showed better performance. • The pig-specific MST assays can contribute to managing the pig fecal pollution. In China, pig feces is the predominant source of excrement produced by animal husbandry. Improper use or direct discharge of pig feces can result in contamination of natural water systems. Microbial source tracking (MST) technology can identify the sources of fecal pollution in environmental water, and contribute to the management of pig fecal pollution by local environmental protection agencies. However, the accuracy of such assays can be context-dependent, and they have not been comprehensively evaluated under Chinese conditions. We aimed to compare the performance of five previously reported pig-specific MST assays (PF, Pig-Bac1SYBR, Pig-Bac2SYBR, Pig-1-BacTaqMan, and Pig-2-BacTaqMan, which are based on Bacteroidales 16S rRNA gene markers) and apply them in two rivers of North China. We collected a total of 173 fecal samples from pigs, cows, goats, chickens, humans, and horses across China. The PF assay optimized in this study showed outstanding qualitative performance and achieved 100% specificity and sensitivity. However, the two SYBR green qPCR assays (Pig-Bac1SYBR and Pig-Bac2SYBR) cross-reacted with most non-pig fecal samples. In contrast, both the Pig-1-BacTaqMan and Pig-2-BacTaqMan assays gave 100% specificity and sensitivity. Of these, the Pig-2-BacTaqMan assay showed higher reproducibility. Our results regarding the specificity of these pig-specific MST assays differ from those reported in Thailand, Japan, and America. Using the PF and Pig-2-BacTaqMan assays, a field test comparing the levels of pig fecal pollution in rivers near a pig farm before and after comprehensive environmental pollution governance indicated that pig fecal pollution was effectively controlled at this location.  相似文献   
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This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990s. The combination of second-trimester serum screening with the ultrasound markers improved the detection rate of affected fetuses but also allowed patients to decrease their risk of carrying a fetus with Down syndrome if the genetic sonogram was normal. More recently the role of the genetic sonogram and its markers have changed with the wide spread use of first-trimester screening. This prior screening ultimately decreases the prevalence of fetal Down syndrome in the second trimester to less than 85% of what it was in the first-trimester as most fetuses with Down syndrome are now identified early. Current interpretation of the second-trimester Down syndrome markers must be based on the result of the first trimester and combined screening to achieve the most accurate risk estimate of an affected fetus. Copyright © 2010 John Wiley & Sons, Ltd.  相似文献   
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为研究城市滨河公园景区地表积尘和周边绿地土壤重金属污染状况及潜在生态风险和健康风险,选择兰州市黄河风情线沿线的游园、广场和主题公园为研究区,分别采集了27个地表积尘和26个周边绿地表土样品.采用地累积指数(Igeo)、单因子污染指数(Pi)、内梅罗综合污染指数(PN)和改进的潜在生态风险指数(RI)评估Cr、 Ni、 Cu、 Zn、 As、 Cd、 Hg和Pb这8种重金属污染特征和潜在生态风险程度,并利用暴露风险模型进行健康风险评价.结果表明,研究区地表积尘和周边绿地土壤As含量的平均值略低于甘肃省土壤元素背景值,但地表积尘的其余元素均高于甘肃省和兰州市元素背景值,而周边绿地除Cr和Ni元素略低于甘肃省和兰州市的背景值之外,其余Cu、 Zn、 Cd、 Hg和Pb含量的平均值却高于两者的背景值.地累积指数和单因子污染指数显示,研究区地表积尘受到Cr、 Cu、 Zn、 Cd、 Hg和Pb的污染,沿途绿地土壤存在不同程度的Cu、 Zn、 Cd、 Hg和Pb的污染.内梅罗综合污染指数表明,研究区地表积尘和周边绿地土壤的综合污染程...  相似文献   
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