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81.
82.
The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation. 相似文献
83.
采用高温水萃取方法对食品中农药残留、甲醛、亚硝酸盐、抗生素等成分进行快速萃取,结合分光光度法、液相色谱等分析方法进行了上述成分的快速检测研究。结果表明,蔬菜中甲胺磷的萃取条件为pH=8.0的磷酸缓冲溶液、萃取温度120℃、萃取时间2~3min;腐竹中甲醛的萃取条件为0.1mLH3PO4溶液/10mL、萃取温度120℃、萃取时间5min;肉制品中亚硝酸盐的萃取条件为5mL硼砂饱和溶液/10mL、萃取温度120℃、萃取时间5min;饲料中四环素的萃取条件为pH=2.0的盐酸溶液、萃取温度100℃、萃取时间4min。与现有的蒸馏、振荡萃取、超声萃取等预处理方法比较,高温水萃取法具有萃取效率高、精密度好、快速、简便和不使用有机溶剂的优点,可以满足实际样品快速检测的需要。 相似文献
84.
Alan R. Thornhill John A. McGrath Robin A. J. Eady Peter R. Braude Alan H. Handyside 《黑龙江环境通报》2001,21(6):490-497
Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
85.
Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
86.
Using improved neural network model to analyze RSP,NOx and NO2 levels in urban air in Mong Kok,Hong Kong 总被引:4,自引:0,他引:4
As the health impact of air pollutants existing in ambient addresses much attention in recent years, forecasting of airpollutant parameters becomes an important and popular topic inenvironmental science. Airborne pollution is a serious, and willbe a major problem in Hong Kong within the next few years. InHong Kong, Respirable Suspended Particulate (RSP) and NitrogenOxides NOx and NO2 are major air pollutants due to thedominant diesel fuel usage by public transportation and heavyvehicles. Hence, the investigation and prediction of the influence and the tendency of these pollutants are ofsignificance to public and the city image. The multi-layerperceptron (MLP) neural network is regarded as a reliable andcost-effective method to achieve such tasks. The works presentedhere involve developing an improved neural network model, whichcombines the principal component analysis (PCA) technique and theradial basis function (RBF) network, and forecasting thepollutant levels and tendencies based in the recorded data. Inthe study, the PCA is firstly used to reduce and orthogonalizethe original input variables (data), these treated variables arethen used as new input vectors in RBF neural network modelestablished for forecasting the pollutant tendencies. Comparingwith the general neural network models, the proposed modelpossesses simpler network architecture, faster training speed,and more satisfactory predicting performance. This improvedmodel is evaluated by using hourly time series of RSP, NOx and NO2 concentrations collected at Mong Kok Roadside Gaseous Monitory Station in Hong Kong during the year 2000. By comparing the predicted RSP, NOx and NO2 concentrationswith the actual data of these pollutants recorded at the monitorystation, the effectiveness of the proposed model has been proven.Therefore, in authors' opinion, the model presented in the paper is a potential tool in forecasting air quality parameters and hasadvantages over the traditional neural network methods. 相似文献
87.
选取大河和巴关河流域2018—2022年水质监测数据,运用单因子评价法、Spearman秩相关系数法、综合污染指数法和主成分分析法,对流域水质状况、变化趋势及主要污染物特征进行综合评价分析。结果表明:2018—2022年,大河流域水质未达到地表水Ⅲ类标准;流域整体综合污染指数超过了1,为重污染,下游污染程度较重;营养指标和有机污染物指标存在显著正相关。巴关河流域水质达到了地表水Ⅲ类标准;流域整体综合污染指数未超过1,为中污染,上游污染程度较重;营养指标、有机污染物指标和重金属指标等均呈现出不同程度的相关性。巴关河流域水质总体优于大河流域。TP、NH3-N、CODMn、CODCr和BOD5是影响大河流域和巴关河流域水质的主要因子,均属于有机型及富营养化污染指标,主要来自生活源和农业源。建议选择适宜的评价方法开展系统性小流域污染溯源,分河段有针对性地开展小流域水环境治理。 相似文献
88.
中国省际资源节约指数的空间差异研究 总被引:1,自引:0,他引:1
论文首次利用改进的"节约指数"并结合图形数据,对中国各省区资源消耗现状进行定量分析。结果表明:中国资源节约指数空间差异明显,总体上东部比西部节约、中部过渡(除山西外);低于全国平均节约水平的省域约占2/3,其中大部分在西部地区;此外,经济发展水平越高的省域,资源环境绩效水平相对越好。研究结果揭示了中国不同省域建设节约型社会的节约水平和资源利用效率差异,同时也为促进区域协调发展以及经济社会的可持续发展提供依据。 相似文献
89.
90.
在电气线路火灾原因的调查中,为更好地区分铜导线一次短路与二次短路的熔痕特征,用扫描电子显微镜(SEM)和X-射线能谱仪(EDS)对2种熔痕的形貌和相应的元素成分进行了试验研究。结果表明:铜导线一次短路与二次短路熔痕的表观形貌特征和元素成分具有明显的不同,二者的区别主要表现在熔痕表面所含的气孔、元素种类及导线本体与熔痕之间的过渡区方面,一次短路熔痕表面气孔多,元素种类少,导线与熔痕之间有明显界限,二次短路熔痕则相反。该研究结果可以区分短路熔痕形成的环境气氛,以此判断导线短路熔痕类型,为电气线路火灾原因的调查提供科学依据。 相似文献