Prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18

We report one case of a familial complex chromosomal rearrangement (CCR) involving four different chromosomes 5, 10, 16 and 18. The CCR was detected prenatally at 20 weeks' gestation because of advanced maternal age and history of recurrent miscarriages. Cytogenetic analysis of cultured amniotic fluid cells with GTG banding showed a 46,XX,t(5;16;10;18)(q13;q22;q11.2;q21) karyotype. Parental cytogenetic study revealed that the mother has the same CCR. RBG banding, high-resolution banding and fluorescence in situ hybridization (FISH) were used to characterize further and confirm the conventional banding data. No physical abnormalities were shown in the targeted fetal ultrasonography examination. The parents decided to continue the pregnancy. The child is now 2 years old and has neither congenital anomalies nor evidence of delayed psychomotor development. The fetal targeted ultrasound and FISH analysis helped us reassure fetal status. Copyright © 2002 John Wiley & Sons, Ltd.     

Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding

It has been suggested that actively expressed genes are primarily located in early replicating bands. This hypothesis is supported by cytogenetic and pregnancy outcome data from four consecutive cases of prenatally detected de novo marker chromosomes. Two fetuses with major anomalies had large early replicating bands, while the marker in a third phenotypically normal fetus was late replicating. In the fourth case, a ring marker chromosome had only a small early replicating region. Pregnancy termination was elected. While no structural malformations were apparent, potential intellectual function in this case remains unresolved. An understanding of the relationship between genomic organization and chromosome banding is critical in counseling for prenatally detected de novo marker chromosomes. Replicational banding is particularly helpful in recognizing genes that may be actively expressed and result in developmental abnormality.     

Synchronization of amniotic fluid cells for high resolution cytogenetics

A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for another 6 1/2–7 h, then harvested in prometaphase without colcemid. This technique gives a mitotic index of 3·7 per cent after thymidine synchronization and of 3·2 per cent after BrdU synchronization, and more than half of the mitoses were in the earlier phases with the chromosomes showing more than 550 bands per haploid set. GBG, GTG, and RHG prometaphases are presented. Precise high-resolution banding of chromosomes of amniotic fluid cells can increase diagnostic accuracy.     

Chromosome banding in direct preparations of chorionic villi

Chorionic villus sampling (CVS) is now currently offered for first trimester prenatal diagnosis of genetic disorders. Chromosome analysis of CVS in direct and culture preparations is possible using modifications of standard banding techniques. We summarize our experience in applying QFQ, GTG, RBG, CBG, DA/DAPI, NOR, and SC differentiation protocols to direct preparations. Characteristic chromosome regions are properly labelled by these techniques, and analysis of 300 band stage karyotypes is consistently achievable on GTG banded direct preparations. However, banding of CVS direct chromosomes has proved to be difficult, and the analysis needs to be backed up by culture preparations.     

Confirmation of a balanced chromosomal translocation using molecular techniques

Investigation of a couple, who had produced three babies with cri du chat syndrome, showed initially that the mother had an apparent deletion of chromosome 5. It seemed likely that she had a balanced chromosomal translocation but it proved impossible to detect the second chromosome involved using routine cytogenetic methods. Molecular techniques using quantitative hybridization dosage studies were performed and these showed that the mother had a double dose of DNA in the suspected delected area of chromosome 5. Further studies, using in situ hybridization techniques, revealed that the missing segment of chromosome 5 had translocated onto the short arms of a C group chromosome and further analysis of prometaphase chromosomes showed the presence of a balanced translocation, 46,XY, t(5;9)(5qter → 5p14.1::9p22 → 9pter;9qter → p22::5p14.1 5pter). As a result of these findings, it was possible to offer prenatal diagnosis to the patient in furture pregnancies, by detecting the presence of a balanced or unbalanced translocation in the fetus using molecular and cytogenetic techniques.     

棕色碳气溶胶来源、性质、测量与排放估算

随着对碳气溶胶吸光性认识的提高,近年来吸光有机碳——BrC(brown carbon,棕色碳)的吸光问题成为继BC(black carbon,黑碳)之后国际大气环境领域的新热点. 基于已有的研究报道,将BrC大体分为焦油类物质、类腐殖质(HULIS)和其他吸光性有机气溶胶三大类,其来源包括一次排放和二次生成2种. 由于BrC缺少BC所具有的类石墨烯结构,致使颗粒间较为分散,加之含氧官能团比重较高,因而在水及有机溶剂中均有较强的可溶性. BrC的光学性质通常借助AAE(ngstrm吸收波长指数)、MAE(质量吸收效率)、RI(折射率)及SSA(单次散射反照率)来表示,其中由于BrC分子结构中缺少sp2杂化成分,形成了区别于BC的典型特征,即AAE>1(而对于BC,其AAE=1)). 虽然已有借助于光学法、热光法、化学法和质谱法进行BrC测定的报道,但目前没有公认的标准测定方法和参考物质,测定结果实际依赖于选定的测定方式. 在排放估算研究方面,BrC远落后于BC,致使有些排放估算方法多以相伴的BC排放量作为参照. 建议今后对BrC研究应主要面向气候影响、生成机理、测定方法、排放因子与控制策略等领域来展开.      

硅藻群落指示的近50年来大理西湖湖泊生态系统演变规律

近年来,增强的人类活动使得云南部分湖泊生态系统发生退化,由草型清水态向藻型浊水态转变.全球变化背景下,了解湖泊生态系统演变规律是进行有效管理的前提,具有重要的科学意义.本研究以云南大理州小型浅水湖泊西湖为例,通过对沉积物硅藻群落和理化指标的分析,探讨了20世纪60年代中期以来大理西湖环境演变历程.结果表明,大理西湖生态系统在近50年发生了明显的稳态转换,以2000年为节点,硅藻群落从2000年前偏好贫营养环境的底栖附生种Cocconeis placentula、Staurosira construens、Gomphonema angustum和Achnanthidium minutissimum为优势种的状态,逐渐演替为偏好中营养环境的底栖附生硅藻Encyonopsis microcephala和Navicula cryptocephala及偏好富营养环境的浮游硅藻Cyclotella atomus、Cyclotella meneghiniana、Stephanodiscus hantzschii和Aulacoseira granulata为主导的状态.时间序列的主成分分析表明,硅藻群落主要响应了营养的变化.冗余分析结果也证实营养盐富集是大理西湖硅藻群落长期演化的主要驱动因素.本文论述了近50年来大理西湖流域气候变化和开发活动（农业围垦、化肥施用、畜牧养殖和渔业养殖等）促使湖泊营养盐持续积累,浮游藻类大量繁殖,湖泊内部生产力显著提高,湖泊生态系统逐渐向藻型浊水态转变的演化特征.     

First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis-preliminary results of a controlled prospective trial

This controlled prospective study assesses the relative risks of first trimester chorionic villus sampling (CVS) versus mid-trimester gentic amniocentesis (GA). CVS subjects and amnio-centesis controls were comparable with regard to several confounding variables which might influence the risk of pregnancy loss including maternal age, smoking, alcohol consumption, gestational age at study entry, and history of vaginal bleeding or poor prior reproductive outcome. The most common indication for prenatal diagnosis was advanced maternal age (n = 511). In this subgroup, spontaneous abortion (<24 weeks) occurred in 2·9 per cent of CVS subjects versus 4−3 per cent of amniocentesis controls. The sum of spontaneous and therapeutic abortions (<24 weeks) was identical (5·3 per cent) in both groups. Therefore, intervention in the CVS group (i.e., therapeutic abortion for cytogenetic abnormalities) did not influence the observed risk of pregnancy loss. Overall perinatal mortality rates were also similar in both groups. No significant differences were identified for a number of pregnancy outcome parameters including 5 min Apgar score, birth weight, body length, head circumference, gestational age at delivery, preterm delivery, fetal growth retardation, congenital malformations, and neonatal complications. Preliminary results of this controlled prospective study suggest that chorionic villus sampling carries a low and acceptable risk.     

Identification of a small supernumerary marker chromosome,r(2)(p10q11.2), and the problem of determining prognosis

The identification of small supernumerary marker chromosomes (SMCs) and the elucidation of their clinical significance remain two of the problems in classical human cytogenetics. We observed a small supernumerary ring in amniotic fluid cell cultures and identified its origin as r(2)(p10q11.2) and its extent by means of fluorescent in situ hybridisation (FISH). Uniparental disomy (UPD) was excluded by microsatellite analysis using polymorphic markers localised in the same region. On the basis of normal ultrasonographic checks, the patient decided to continue the pregnancy. A normal female was delivered at term and subsequent neonatal follow-ups confirmed the normal phenotype and development. In the present case, genetic counselling was not helpful because of the absence of reference cases. Detailed characterisation made it possible to correlate the normal baby phenotype with the trisomic 2p10-2q11.2 genomic region. Further molecular cytogenetic investigations of SMCs classified by DNA content and pregnancy outcome data should improve genetic counselling and risk evaluation. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal identification of i(YP) by molecular cytogenetic analysis

An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studies further confirmed the diagnosis. Upon pregnancy termination, external examination of the fetus revealed a generally well-developed male fetus with slight facial dysmorphism and prominent rocker-bottom feet. The molecular cytogenetic data in this case proved very useful in genetic counselling and served as a good example illustrating the important role of molecular techniques for accurate identification of marker chromosomes.     

Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysis

Fetal obstructive bowel disease was diagnosed in 29 patients at 22–37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69, XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic ‘double bubble’ sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20).     

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high- or very-low-risk pregnancies

An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false-negative and false-positive findings propagate the combined use of direct and culture methods. Yet large collaborative studies have shown that in approximately two-thirds of diagnostic cases only one procedure is applied. Moreover, the accuracy of a cytogenetic investigation depends not only on the ontogenetic origin of the tissues investigated, but also on interacting factors such as the ‘a priori risk’ and the ‘predictive value of a cytogenetic finding’. On this basis a differentiated prenatal diagnostic procedure is discussed, including either sole short-term culture (STC), combined STC and long-term culture (LTC), primary amniocentesis (AC), or primary percutaneous umbilical blood sampling (PUBS). The predictive value of the cytogenetic diagnosis from CVS varies significantly dependent on the a priori risk of a chromosome aberration and, in the case of an abnormal karyotype, on the specific chromosome involved. A non-mosaic and ‘non-lethal’ trisomy detected in STC is highly representative of the embryo/fetus, but there are exceptions of limited predictive value, e.g., trisomy 18. Guided by the strategy of an optional follow-up by LTC, AC, or PUBS in 1317 successive CV samplings, we are not aware of a false-negative diagnosis, but probably had one false-positive diagnosis: 47,XXY after STC; 46,XY after LTC. When referring to the rate of fetuses with an unbalanced karyotype expected in the different indication groups, a relative increase of false-positive findings in the very-low-risk group (maternal age ⩽35 years of age) and of false-negative findings in the very-high-risk group (abnormal ultrasonographic findings) of pregnant women when only performing CVS becomes obvious. Because of this dilemma, AC or—especially in the latter group—PUBS might be primarily offered to these indication groups instead of CVS.     

Rapid sexing of human embryos by non-radioactive in situ hybridization: Potential for preimplantation diagnosis of X-linked disorders

Sixty spare human embryos at various stages of preimplantation development were prepared for cytogenetic analysis. Fluorescent staining of those with metaphases allowed scoring for the presence of a Y chromosome. In situ hybridization was then performed using a biotinylated Y-specific sequence, and the probe was detected by a standard streptavidinlinked alkaline phosphatase system. This enabled comparison of the chromosomal sex with that obtained after in situ hybridization in 28 embryos, and the sexing result obtained by the two methods was concordant in all cases. A further 21 embryos in which no metaphase chromosomes were obtained were sexed by biotinylated in situ hybridization only. Overall, 66 per cent of male interphase nuclei demonstrated a Y-specific hybridization signal. Results were obtained in under 24 h, which may permit the sexing of an embryo biopsied during cleavage and the transfer of sexed embryos at the blastocyst stage to the mother's uterus in the same cycle as oocytes are collected for in vitro fertilization.     

Molecular analysis of long-term biofilm formation on PVC and cast iron surfaces in drinking water distribution system

To understand the impacts of different plumbing materials on long-term biofilm formation in water supply system, we analyzed microbial community compositions in the bulk water and biofilms on faucets with two different materials-polyvinyl chloride （PVC） and cast iron, which have been frequently used for more thanlO years. Pyrosequencing was employed to describe both bacterial and eukaryotic microbial compositions. Bacterial communities in the bulk water and biofilm samples were significantly different from each other. Specific bacterial populations colonized on the surface of different materials. Hyphomicrobia and corrosion associated bacteria, such as Acidithiobacillus spp., Aquabacterium spp., Limnobacter thiooxidans, and Thiocapsa spp., were the most dominant bacteria identified in the PVC and cast iron biofilms, respectively, suggesting that bacterial colonization on the material surfaces was selective. Mycobacteria and Legionella spp. were common potential pathogenic bacteria occurred in the biofilm samples, but their abundance was different in the two biofilm bacterial communities. In contrast, the biofilm samples showed more similar eukaryotic communities than the bulk water. Notably, potential pathogenic fungi, i.e., Aspergillus spp. and Candida parapsilosis, occurred in similar abundance in both biofilms. These results indicated that microbial community, especially bacterial composition was remarkably affected by the different pipe materials （PVC and cast iron）.     

Admixture of maternal metaphases in first trimester direct chromosome preparations?

The autoradiographic labelling of different cell types in chorionic villi and decidual tissue was investigated after [³H]-thymidine incorporation in vitro. Although the extent of labelling was found to be lower in decidual than in villus tissue the possibility that direct chromosome preparations may contain maternal metaphases should be considered. The need for careful selection of villi for direct cytogenetic analysis was stressed.     

Removal of polycyclic aromatic hydrocarbons from aqueous solution by raw and modified plant residue materials as biosorbents

Removal of polycyclic aromatic hydrocarbons （PAHs）, e.g., naphthalene, acenaphthene, phenanthrene and pyrene, from aqueous solution by raw and modified plant residues was investigated to develop low cost biosorbents for organic pollutant abatement. Bamboo wood, pine wood, pine needles and pine bark were selected as plant residues, and acid hydrolysis was used as an easily modification method. The raw and modified biosorbents were characterized by elemental analysis, Fourier transform infrared spectroscopy and scanning electron microscopy. The sorption isotherms of PAHs to raw biosorbents were apparently linear, and were dominated by a partitioning process. In comparison, the isotherms of the hydrolyzed biosorbents displayed nonlinearity, which was controlled by partitioning and the specific interaction mechanism. The sorpfion kinetic curves of PAHs to the raw and modified plant residues fit well with the pseudo second-order kinetics model. The sorption rates were faster for the raw biosorbents than the corresponding hydrolyzed biosorbents, which was attributed to the latter having more condensed domains （i.e., exposed aromatic core）. By the consumption of the amorphous cellulose component under acid hydrolysis, the sorption capability of the hydrolyzed biosorbents was notably enhanced, i.e., 6-18 fold for phenanthrene, 6-8 fold for naphthalene and pyrene and 5-8 fold for acenaphthene. The sorpfion coefficients （Kd） were negatively correlated with the polarity index [（O＋N）/C], and positively correlated with the aromaticity of the biosorbents. For a given biosorbent, a positive linear correlation between logKoc and logKow for different PAHs was observed. Interestingly, the linear plots of logKoc-logKow were parallel for different biosorbents. These observations suggest that the raw and modified plant residues have great potential as biosorbents to remove PAHs from wastewater.     

Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely. Copyright © 2004 John Wiley & Sons, Ltd.     

Ultrasonic courtship song in the Asian corn borer moth, Ostrinia furnacalis

Although sex pheromone communication in the genus Ostrinia (Lepidoptera: Crambidae) has been studied intensively, acoustic communication in this genus has not been explored. In this study, we report that male-produced ultrasound serves as a courtship song in the Asian corn borer moth, O. furnacalis. Upon landing close to a pheromone-releasing female, a male showed a series of courtship behaviors involving emission of ultrasound. The sounds were produced when the wings were vibrated quickly in an upright position. The male song was composed of chirps, i.e., groups of pulses (duration of a chirp = 58.9 ms, 8.8 pulses/chirp), with a broadband frequency of 25–100 kHz. In flight tunnel experiments, deaf and hearing females showed a significant difference in the incidence of three behavioral responses to courting males, i.e., immediate acceptance, acceptance after walking, and rejection. Deaf females showed more ‘rejection’ and less ‘acceptance after walking’ than hearing females, indicating that the detection of male-produced ultrasound plays an important role in the acceptance of a male. The findings are discussed in the context of exploitation of receiver bias and mate choice.     

环境中挥发性有机物监测及分析方法

挥发性有机物(VOCs)是一类重要的环境污染物,严重威胁着环境和人类健康。随着VOCs问题的日趋突出,关于VOCs监测技术的研究也越来越多,检测技术逐渐完善。本文对大气中VOCs的监测技术进行了详细的综述,重点介绍了气相色谱-质谱、高效液相色谱等离线检测方法和质子转移反应质谱法在线监测方法。此外,本文分析了各种采样方法及仪器检测技术的优势与不足,旨在为大气VOCs的监测与研究起到一定的指导作用。     

氯乙烯作业工人的染色体畸变和姊妹染色单体交换

1978年对北京地区某聚氯乙烯工厂的14名工人和14名对照者的外周血淋巴细胞作了染色体畸变频率和姊妹染色单体交换数目的检查。 两种细胞遗传学技术——常规技术和SCE技术对长期接触环境中高浓度氯乙烯的工人的染色体的诱变效应都是灵敏的。 实验监测结果表明工人的染色体断裂频率和姊妹染色单体交换的数目都显著地高于对照组。14名工人的平均染色体断裂是16.5%,对照组是2.57%;12名工人的每个细胞的平均姊妹染色单体交换数目是8.27±0.45,对照组是4.13±0.11。