Preimplantation genetic diagnosis using FISH for carriers of Robertsonian translocations: the Portuguese experience

Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for couples at risk of transmitting genetic disorders to their offspring. We present a fluorescence in situ hybridization (FISH) analysis of embryos obtained after seven PGD cycles in six couples with Robertsonian translocations and male factor infertility: 4 der(13;14), 1 der(14;21) and 1 der(15;21). Of 74 metaphase II (MII) injected oocytes, 61 (82.4%) fertilized normally and cleaved. Of these, 37/61 (60.7%) embryos were of high morphological quality with ≥6 blastomeres. After biopsy of 44 embryos at day 3 of development, seven degenerated, seven arrested in development and 30/44 (68.2%) evolved, of which 25/30 (83.3%) reached the morula/blastocyst stage. Analysis of biopsied blastomeres showed 23/44 (52.3%) of normal/balanced embryos, of which 15 (11 at the morula/blastocyst stage) were transferred in six cycles. One term pregnancy was achieved, which ended by cesarean section at 37 weeks of gestation, giving birth to two healthy newborn. Analysis of 49 embryos (excluding 12 inconclusive cases) showed a predominance of alternate segregation (38/49, 77.6%) over adjacent segregation (7/49, 14.3%), with one (2%) being a polyploid mosaic and three (6.1%) chaotic. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. FCMD is recognized as an autosomal recessive genetic defect. Genetic counselling is recommended for parents at risk of having a child with FCMD. Given the high risk and overwhelming prospect of having another child with this incurable devastating condition leads many couples to consider prenatal diagnosis. In Japanese families, haplotype analysis using microsatellite markers is available. In non-Japanese families, DNA sequence analysis is available. Both disease-causing alleles of an affected family member must be identified before prenatal testing can be performed. Copyright © 2006 John Wiley & Sons, Ltd.     

Prenatal diagnosis of trisomy 9. Six cases and a review of the literature

Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.     

Gradient Genogeographic Analysis of <Emphasis Type="Italic">Pinus sylvestris</Emphasis> L. Populations in Europe

Gradients of Nei's genetic distances between 15 samples of Pinus sylvestris L. trees were analyzed along three submeridional transects, from Scandinavia to the Mediterranean and Transcaucasia. As a result, distinct chorogenetic differentiation was revealed between the populations of this species growing in climatically specific regions of northern and southern Europe. Considerable Nei's distances (DN = 0.045–0.056) and their gradients, combined with differences in stable phenotypic characters (the composition of monoterpenes and morphological parameters of cones) determined at the Pyrenean and Caucasian mountain borders, suggest that the P. sylvestris species structure includes two South Eurasian subspecies, the Pyrenean P. sylvestris L., ssp. iberica Svoboda and the Transcaucasian P. sylvestris L., ssp. hamata (Stev.) Fomin.     

Rare cell isolation using antibodies covalently linked to slides: application to fetal cells in maternal blood

We describe here a new type of method for isolation of rare cell populations in biological fluids. The method is based on the anthraquinone technology for covalent binding of molecules to a polymer surface. An anthraquinone molecule conjugated via a linker to an electrophilic group (AQ Immobilizer™ reagent, Exiqon A/S) is covalently bound to a polymer surface by UV irradiation. The electrophilic group of this AQ reagent can covalently bind a specific antibody directed against a specific cell marker. Applying a cell sample to the functional surface, the cells having the specific cell marker on the cell surface will bind to the antibody on the functional surface. Using this technique, even extremely small cell populations may be isolated. We succeeded in isolating fetal cells from maternal blood samples in the first trimester for chromosome defects genetic diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.     

基于PSO优化BP神经网络的水质预测研究

为快速准确地预测河流水质,结合汾河监测数据,使用粒子群算法(PSO)优化BP神经网络模型(PSO-BP)进行水质预测.通过灰色关联度分析确定输入变量,利用PSO算法修正BP网络的初始权值、阈值,优化神经网络结构及算法全局收敛性.采用该模型对汾河主要污染物指标COD、BOD5、氨氮、挥发酚等进行预测和验证.结果表明,与传统的BP神经网络模型相比,PSO-BP模型使最大相对误差从15.43％减小到1.46％,其平均误差由4.00％减小到1.01％,预测均方根误差从5.956×10-3减小到1.605×10-4.因此,基于PSO-BP神经网络模型的预测更加精确,可用于水质预测.     

基于随机森林算法与农户视角的村落级农业面源污染风险分析

当前农业面源污染问题依然严峻,村落级尺度下各地块的污染风险状态精细识别有待进一步研究.本文针对三峡库区典型村落重庆市涪陵区南沱镇睦和村进行研究,结合无人机多光谱技术、农户行为调研、随机森林算法等进行地物识别及泛地块网格划分,通过测算总氮(total nitrogen,TN)、总磷(total phosphorus,TP...     

CO气体激光检测仪中基于FPGA的信号源设计

在激光检测仪的系统设计中,要求信号源四路波形同步异频发生,且有移相、倍频、波形叠加等要求。利用FPGA技术完成满足以上要求的直接数字频率合成器(DDS)的设计。在实现中选用Altera公司的FPGA芯片EP2C8Q208C8为主芯片进行设计,充分利用了该芯片的超大集成性和快速性。在改进的DDS算法结构的基础上,系统的复杂度降低,更趋于模块化,产生的波形频率更准确。     

煤层透气性系数的优化和简化计算方法

煤层透气性系数是用以考察保护层开采效果和设计瓦斯抽采系统的重要参数之一,钻孔径向流量法是求取该系数最常用的算法。利用理论推导和图形分析方法,探讨流量准数、时间准数、煤层透气性系数与参数A,B间的关系。在此基础上,针对科研工作和现场管理的实际情况,提出求解透气性系数的2种新算法及其算法流程,并对时间准数-参数A,B函数关系中的间断点问题进行讨论和分析,解决此区间内求解透气性系数相应计算公式等问题。理论和实例分析表明:算法1在不更改最终计算公式和结果的前提下,省去了繁琐的试算过程,既保证了可靠性也优化了计算流程;算法2以稍减精度的代价对计算流程进行进一步的简化,其结果仍有较高精度。