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.     

X－射线荧光光谱法测定道路扬尘中21种元素

本文用Ｘ－射线荧光光谱法，一次测定道路扬尘中Ｎａ等２１种元素。人工配制标样，回归法求取校准曲线常数，用散射线内标法和经验系数法校正基体效应。方法的准确度、精密度较好，分析结果令人满意。     

遮阴和盐分对银叶树幼苗光合特性与叶绿素荧光参数的影响

通过比较不同光和盐水平下银叶树(Heritiera littoralis)幼苗的叶绿素含量、光合光响应参数及叶绿素荧光参数的差异,探讨了遮阴和施盐处理下银叶树幼苗的光合生理及适应能力。以银叶树盆栽幼苗为研究对象,以全光无盐为对照,设置遮阴(遮光率为80%)与2.5%盐水处理,经60 d的处理,测定其光合光响应参数、叶绿素荧光参数及叶绿素含量。结果表明,在正常环境下,银叶树光饱和点(LSP)、光补偿点(LCP)及Chla/b分别为1023、28.8μmol·m^?2·s^?1及3.65,属阳性树种。在无盐条件下,遮阴处理导致了叶片叶绿素含量、表观量子效率(AQY)、PSⅡ潜在活性(Fv/Fo)、PSII最大光化学效率(Fv/Fm)及PSⅡ有效光化学量子产量(Fv'/Fm')的升高,却降低了Chl a/b、最大净光合速率(P′max)、LSP、LCP、暗呼吸速率(Rd)、初始荧光(Fo)、PSⅡ实际光合效率(ΦPSⅡ)、表观光合量子传递效率(ETR)、光化学猝灭系数(qP)及非光化学淬灭系数(NPQ)。在全光照或80%的遮阴环境下,盐胁迫均使得叶片叶绿素含量、光合光响应参数(AQY、P′max、LSP)及叶绿素荧光参数(Fm、Fv/Fo)显著下降(P<0.05);而在全光环境下,盐胁迫同样显著降低了Fv/Fm、ΦPSⅡ、ETR(P<0.05),但在遮阴环境下,盐胁迫并没有显著降低叶片Fv/Fm、Fv′/Fm′、ΦPSⅡ及ETR(P>0.05)。盐分对叶片叶绿素含量、光合光响应参数(AQY、P′max及LSP)及叶绿素荧光参数(Fo、Fm、Fv、Fv/Fo、ΦPSⅡ、ETR及NPQ)的影响高于光照,光和盐对叶绿素含量、光合光响应参数(AQY、P′max及LSP)及叶绿素荧光参数的影响没有交互作用。研究表明,银叶树幼苗表现出较高的耐阴性及对弱光的利用能力;盐胁迫使银叶树幼苗发生了明显的光抑制,PSII的光化学活性降低,过剩光能对光系统的破坏的风险增加,光能转换效率与电子传递能力下降,光合作用效率大幅降低。     

针铁矿纤铁矿催化降解苯酚动力学速率及其反应产物研究

研究了针铁矿和纤铁矿在过氧化氢参与下对苯酚的催化降解的动力学速率与溶液pH关系,并用紫外吸收谱测定其反应产物的谱学特征,发现纤铁矿反应体系降解苯酚的速率大于针铁矿反应体系,其中又以pH=3.8的纤铁矿体系反应速率常数最大。当溶液pH=3～4时,苯酚可被完全降解,并有40%～60%有机碳(TOC)被矿化。当溶液pH=4～5时,苯酚可被转化为多酚类化合物,但基本上不被矿化。当溶液pH>5时,苯酚没有发生明显的转化和矿化。     

拟面积多波长数据线性双组合解析萘,1—萘酚和2—萘酚同步荧光光谱的研究

本文研究了Δλ（λｅｍ－λｅｘ）为１３０ｎｍ和ＰＨ１２．０条件下，萘、１－萘粉和２－萘酚混合物的同步荧光光谱，获三者同步荧光峰信息，且萘被完全分辨，另外，提出用拟面积多波长线性双组合计算解析重叠的１－萘酚和２－萘酚同步荧光光谱，解析结果的精密度、组份间浓度比范围均较多波长线性回归、双峰增配平和一阶导数解析混合物同步荧光光谱结果为优。     

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.     

流动注射在线离子交换富集-原子荧光光谱法测定环境水样中痕量汞

提出了一种流动注射在线离子交换富集一氢化物发生原子荧光光谱法测定水样中总汞的分析方法。设计了双柱并联富集，串联洗脱的在线离子交换流路及操作程序，优化了各项化学条件及流路参数。方法操作简便快速，灵敏度高，干扰少。富集倍数达25倍以上，采样频率为30次／h，回收率达90％－105％。应用于环境水样中痕量汞的测定，获得了满意的结果。     

Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: A prospective study

A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as normal or abnormal; the results were subsequently checked against the cytogenetic findings. Four hundred and ninety-three were correctly identified as normal with an 86·6 per cent average frequency of scored nuclei exhibiting two signals; six cases were correctly identified as trisomic for chromosome 21 with 81·7 per cent of scored nuclei exhibiting three signals; and one abnormal case involving an unbalanced chromosome 21·21 translocation was falsely scored as normal due to poor hybridization/detection efficiency. The method has been substantially improved and simplified so that it is suitable for the rapid detection of trisomy 21. As aneuploidy detection in interphase does not identify structural chromosome aberrations, it is not a substitute for fetal chromosome analysis.     

湖南郴县千里山花岗岩及其衍生岩脉云母矿物的红外光谱研究

湖南郴县千里山花岗岩及其衍生岩脉云母矿物系统的红外光谱分析结果表明:这些云母矿物分属于Li-Fe系列和Li-Al系列,前者所有红外光谱吸收峰波数均较后者相应的吸收峰值低;羟基伸缩振动与云母~(v1)Al的含量有关;(Al)Si-O-Si的对称伸缩振动与~(vl)Li~+含量关系密切;而Si-O弯曲振动或O-Me(金属)伸缩振动的频率变化则主要受~(vl)Fe~(2+)的含量制约。不同类型的云母有时其成分与红外光谱振动频率的关系有各自的规律,根据这一关系可以大致划分云母种属并粗略估计云母中某些主要组分的相对含量。结合云母产状的分析,两个系列出现于花岗岩蚀变的不同演化阶段,这对探讨岩体演化及矿化规律有一定的意义。     

Comparative analysis of the structure of carbon materials relevant in combustion

The determination of the structure of carbon materials is an analytical problem that join the research scientific communities involved in the chemical characterization of heavy fuel-derived products (heavy fuel oils, coal-derived fuels, shale oil, etc.) and of carbon materials (polycyclic aromatic compounds, tar, soot) produced in many combustion processes.

The knowledge of the structure of these “difficult” fuels and of the carbon materials produced by incomplete combustion is relevant to research for the best low-environmental impact operation of combustion systems; but an array of many analytical and spectroscopic tools are necessary, and often not sufficient, to attempt the characterization of such complex products and in particular to determine the distribution of molecular masses.

In this paper the size exclusion chromatography using N-methyl-pyrrolidinone as eluent has been applied for the characterization of different carbon materials starting from typical carbon species, commercially available like polyacenaphthylene, carbon black, naphthalene pitch up to combustion products like soot and soot extract collected in fuel-rich combustion systems. Two main fractions were detected, separated and molecular weights (MWs) determined by comparison with polystyrene standards: a first fraction consisted of particles with very large molecular masses (>100 000 u); a second fraction consisted of species in a relatively small MW range (200–600 u). The distribution of these fractions changes in dependence on the carbon sample characteristics.

Fluorescence spectroscopy applied on the fractions separated by size-exclusion chromatography has been used and comparatively interpreted giving indications on the differences and similarities in chemical structure of such different materials.