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.     

加速溶剂萃取-在线净化-液相色谱串联质谱法检测污泥堆肥样品中三氯生和三氯卡班

污泥堆肥样品基质复杂,其中三氯生（TCS）和三氯卡班（TCC）的提取和净化过程操作烦琐、回收率低。通过对净化条件进行优化,建立了加速溶剂萃取-在线净化-液相色谱串联质谱法检测污泥堆肥样品中TCS和TCC的分析方法,并对上海某污水厂实际污泥堆肥样品中的TCS和TCC进行定量分析。结果表明,TCS和TCC的检出限分别为0.003和0.0002μg/g,加标回收率为90.3%~99.8%,相对标准偏差（RSD）为1.2%~8.5%（n=6）。该方法样品前处理时间短、回收率高、试剂使用量少,能够满足实际污泥堆肥样品中TCS和TCC的检测要求。     

The characteristic of in situ stress in outburst area of China

In order to obtain the characteristics of in situ stress field in outburst mining area, using the hollow inclusion (HI) technique to measure the in situ stress of coal and gas outburst mining area. The measurement sites located in northeast, middle and east of china, which include eight mining areas such as Fuxin, Pingdingshan, Hebi and Huainan. Base on the analysis of measurement data from outburst mining area, conclusions could be obtained as follow: (a) major principal stress and minor principal stress is horizontal stress and interim principal stress is vertical stress, and the type of outburst area’s stress field is dynamic stress field; (b) the major principal stress and minor principal stress are higher than other regions and the tectonic stress is outstanding; and (c) the ratio of major principal and vertical stress is decrease with the increase of depth and the type of stress field is likely transfer dynamic to static. Thus, in situ stress plays a key role during the occurring and development of coal and gas outburst, which is an important reason of severe outburst in China.     

护听器个人防护值验证技术

本文介绍了关于护听器实际防护值的研究数据,和用于护听器个人防护效果验证的方法,以及3ME-A-RfitTM听力防护验证系统。研究表明,护听器的标称降噪值对其实际防护值的指示性非常差,目前也还没有一个可靠的方法来使用护听器的标称值。3ME-A-RfitTM听力防护验证系统是使用实地真耳内置麦克风(F-MIRE)方法,在实际工作现场中快速、定量地测定护听器在具体使用者身上取得的个人声衰减值(PAR),让安全管理人员对员工实际获得的防护水平有清晰的了解。     

汽车尾气净化催化剂Ag/SAPO-34选择性催化还原NO

评价了Ag/SAPO-34分子筛催化剂选择性还原NO的活性,并运用漫反射红外光谱原位研究NO在Ag/SAPO-34催化剂上的选择性催化还原机理.结果表明Ag/SAPO-34有良好的低温活性,在氧气浓度为3.6%和温度为573K～673K时NO还原成N2的转化率达70%;催化剂活性随C3H6浓度的增加而升高,随空速的增加而稍有下降.基于漫反射红外光谱,认为反应机理为:NO、丙烯和氧反应,在Ag/SAPO-34催化剂上生成吸附的有机-氮氧化物,再由这些吸附物种分解成N₂,催化还原的关键是形成有机-氮氧化物中间体.氧的作用是充分促进丙烯活化以及增加NO_x吸附态含量,并且氧的存在是有效产生一系列中间物不可缺少的条件.     

农牧交错区土地荒漠化与生物多样性研究--以宁夏盐池县为例

采用α-多样性指数即Shannon-Wiener指数、Simpson指数、群落均匀度指数Jsw和Js和β-多样性指数(相似性系数Cs)研究宁夏盐池县草原群落在不同荒漠化治理措施下(人工封育、退耕还林、撂荒)生物多样性变化.2002和2003年固定样地观测数据表明,到2003年,各样地的α-多样性指数均有不同程度的提高,以撂荒地和退耕还林地α-多样性变化较大.Simpson指数、Js指数变化最为明显,分别平均增加了140%、109%,Shannon-Wiener指数、Jsw指数次之,分别增加67%、49%.人工封育不同处理区α-多样性指数也有较大变化,由核心＞边缘＞外围,变为边缘＞核心＞外围排列次序.β-多样性的研究结果同样表明,各样地的种类组成发生了一定的变化.文章还进一步分析了引起生物多样性变化的主要原因.     

Mosaicism for trisomy 12: Four cases with varying outcomes

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.     

海洋原位化学探测核心技术的研究应用

化学传感器和化学分析器是海洋原位化学探测系统中的核心技术。本文从电化学、光纤化学和湿法化学分析等三个领域介绍了国际上化学传感器和化学分析器的研究和应用现状 ,比较了部分化学传感器和化学分析器的性能指标和优缺点 ,指出了海洋原位化学探测技术的发展趋势。与国外海洋原位化学探测技术的研究相比 ,我国在这方面的研究基本上还是空白 ,海洋原位化学探测技术已成为我国亟待发展的海洋高新技术之一。     

Evaluation of X,Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.