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1.
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
2.
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
3.
为研究机动车道路行驶过程中轮胎磨损排放的颗粒物理化特性,利用轮胎轮廓仿真磨耗仪,对国内主流17种轮胎胎面进行仿真磨耗实验,获得颗粒物样品,提取并检测其中18种元素和20种多环芳烃(PAHs)的含量.结果显示,元素和PAHs含量因轮胎品牌和速度等级的不同而差异显著.18种元素平均含量为(99.04±68.43)mg/g,占样品总重的9.90%,其中Si(88.97±67.85)mg/g、Zn(6.77±1.64)mg/g和Na(1.05±0.75)mg/g的平均含量均超过1mg/g,Cd的含量最低,为(0.43±0.31)μg/g.20种PAHs含量之和(∑20PAHs)在12.13~433.64 μg/g,平均为(94.13±110.18)μg/g,PY的平均含量最高(30.98±31.27)μg/g,其次是CHR、BaP、FA、PHE和BghiP,平均含量最低的是AC(0.58±0.2)μg/g;从环数看,以4环PAHs为主(占∑20PAHs的45.03%~67.93%),其次为3环(平均含量为15.45%)和5环(平均含量为12.62%).总体来说,国外品牌轮胎样品中元素和PAHs含量略高于国内品牌,而主要PAHs环数略低于国内品牌. 相似文献
4.
以南京江北新区分流制雨水管道沉积物为研究对象,考察不同粒径沉积物中铵态氮(NH3-N)和硝态氮(NO3--N)干期分布特征,分析其随干期长度的变化关系,并探讨沉积物理化性质及微生物菌群结构对NH3-N和NO3--N干期分布的影响.结果表明:粒径≤0.075mm的沉积物中NH3-N占比最高(交通区30.8%,商业区36.7%);交通区粒径≤0.075mm的沉积物中NO3--N占比最高(33.0%),而商业区粒径0.075~0.15mm沉积物中NO3--N占比最高(34.4%);干期长度与交通区0.075~0.15mm粒径段的沉积物中NO3--N含量及商业区粒径≥0.3mm的沉积物中NH3-N含量之间的相关性均最显著;雨水管道沉积物中NH3-N和NO3--N的干期分布与O-H和N-H等官能团、表面极性和亲水性、微观形貌等有一定关联;交通区雨水管道沉积物中Gemmobacter等反硝化优势菌种(相对丰度总和为20.15%)对NO3--N干期分布影响更显著. 相似文献
5.
为厘清包括二次有机气溶胶(SOA)在内的深圳市区PM2.5各种一次和二次来源贡献,本文于2017年9月2日~2018年8月29日在深圳市大学城点位开展PM2.5样品采集,并进行化学组分和水溶性有机物(WSOM)质谱测量,共获得162组有效数据.观测期间深圳市大气PM2.5平均质量浓度为26μg/m3,在传统PMF源解析的基础上加入羧基离子碎片(CO2+)作为SOA的示踪物,加入水溶性有机氧(WSOO)用于计算各因子O/C,验证有机物解析效果.结果表明,SOA可以被独立解析出,其O/C明显高于其他一次污染源中有机物;机动车、二次硫酸盐、二次硝酸盐、SOA为最主要的4个源,对PM2.5质量浓度的贡献分别为25%、23%、17%和10%,船舶、地面扬尘、老化海盐、建筑尘、生物质燃烧、燃煤和工业贡献均在5%以内.各个源的变化特征表明,机动车、二次硫酸盐、二次硝酸盐、SOA等源贡献呈现冬高夏低的季节特征,与冬季季风条件下源自内陆的污染传输密切相关.污染天气时,二次硝酸盐和SOA的贡献增加相对最显著,因此NOx和挥发性有机物是减排的关键. 相似文献
6.
基于成都市2013年6月~2015年5月期间由Mie散射激光雷达探测的大气消光系数廓线资料,发现混合层以上在颗粒物消光和分子消光之间一致存在一个S型的过渡区,利用sigmoid函数对此分布形态进行模拟,通过计算该函数上下曲率最大点所在的高度,据此提出了颗粒物分界层Mie散射激光雷达识别的sigmoid算法.针对该算法模拟效果的分析表明,颗粒物分界层过渡区附近大气消光系数理论廓线和实测廓线保持了高度的相关性,二者在春夏秋冬四季的相关系数(R)分别为0.9971±0.0052、0.9935±0.0167、0.9979±0.0038和0.9990±0.0021(均通过α=0.05的显著性检验).基于sigmoid算法计算的颗粒物分界层过渡区与成都市温江站探空资料得到的逆温层之间存在很好的对应关系. 相似文献
7.
Yanqin Ren Gehui Wang Jianjun Li Can Wu Cong Cao Jiayuan Wang Lu Zhang Fan Meng Hong Li 《环境科学学报(英文版)》2018,30(9):32-44
Size-resolved biogenic secondary organic aerosols(BSOA) derived from isoprene and monoterpene photooxidation in Qinghai Lake, Tibetan Plateau(a continental background site) and five cities of China were measured using gas chromatography/mass spectrometry(GC/MS). Concentrations of the determined BSOA are higher in the cities than in the background and are also higher in summer than in winter. Moreover, strong positive correlations(R2= 0.44–0.90) between BSOA and sulfate were found at the six sites,suggesting that anthropogenic pollution(i.e., sulfate) could enhance SOA formation,because sulfate provides a surface favorable for acid-catalyzed formation of BSOA. Size distribution measurements showed that most of the determined SOA tracers are enriched in the fine mode( 3.3 μm) except for cis-pinic and cis-pinonic acids, both presented a comparable mass in the fine and coarse( 3.3 μm) modes, respectively. Mass ratio of oxidation products derived from isoprene to those from monoterpene in the five urban regions during summer are much less than those in Qinghai Lake region. In addition, in the five urban regions relative abundances of monoterpene oxidation products to SOA are much higher than those of isoprene. Such phenomena suggest that BSOA derived from monoterpenes are more abundant than those from isoprene in Chinese urban areas. 相似文献
8.
目的为保障油田正常安全生产,促进油田含聚污水的循环利用。方法采用电絮凝技术单因素研究方法开展净化含聚污水的静态实验研究,探讨外加电流密度、极板间距、初始pH及聚合物浓度等因素对净化效果的影响规律。结果当初始pH为7.0,电流密度为4.0 m A/m2,极板间距为1.0 cm,电解16 min时,综合处理效果最佳。此时,含油量与浊度去除率分别为98.85%,99.93%,处理每克油平均消耗为0.0494 g的Al,处理每立方米含聚污水的能耗为0.2895 k Wh。污水中的聚合物浓度越小,净化效果越好。结论中性处理,极板间距为1.0 cm,外加电流密度为4.0 m A/m2,通电16 min是最佳处理条件。 相似文献
9.
Analysis of pollutant levels in central Hong Kong applying neural network method with particle swarm optimization 总被引:6,自引:0,他引:6
Air pollution has emerged as an imminent issue in modernsociety. Prediction of pollutant levels is an importantresearch topic in atmospheric environment today. For fulfillingsuch prediction, the use of neural network (NN), and inparticular the multi-layer perceptrons, has presented to be acost-effective technique superior to traditional statisticalmethods. But their training, usually with back-propagation (BP)algorithm or other gradient algorithms, is often with certaindrawbacks, such as: 1) very slow convergence, and 2) easilygetting stuck in a local minimum. In this paper, a newlydeveloped method, particle swarm optimization (PSO) model, isadopted to train perceptrons, to predict pollutant levels, andas a result, a PSO-based neural network approach is presented. The approach is demonstrated to be feasible and effective bypredicting some real air-quality problems. 相似文献
10.
A positive correlation has been established between increased levels of airborne particulate pollution and adverse health effects, the toxicological mechanisms of which are poorly understood. For toxicologists to unambiguously determine thesemechanisms, truly representative samples of ambient PM10 are required. This presents problems, as PM10 collecting equipment commonly employed, such as the Tapered Element Oscillating Microbalance (TEOM®), heat the inflow toexclude moisture or use fibrous filters, resulting in a PM10sample that may have undergone significant chemical change on thefilter surface or is contaminated by filter fibres. Other systems(i.e. Negretti and Partisol) can successfully collect PM10 without chemical alteration or filter contamination. Comparativecollections from Port Talbot, S. Wales suggest that TEOMs and Negretti/Partisol systems collect different PM10's; the principle difference arising from the TEOM's heating chamber, which precipitates water-soluble ions and volatilises some organic components. This results in both the mass and compositionof the PM10's being altered. Particle size distributionsfor Negretti and Partisol collections highlighted differences mainly attributed to different flow rates. The results of thiswork demonstrate that simple correlations between PM10 massand adverse health effects are problematic. Furthermore, elucidation of the complex fractionation and chemical changes indifferent collectors is necessary. 相似文献