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.     

大气颗粒物的源成分谱研究现状综述

调研国内外大气颗粒物排放源成分谱研究情况,对排放源的分类、颗粒物的化学组分和测定、各类排放源的成分谱组成、研究情况以及排放源的标识元素情况进行了综述.     

A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1—evidence for high variability in mosaicism in different tissues of sSMC carriers

A prenatally ascertained case with a de novo small supernumerary marker chromosome (sSMC) derived from chromosome 1 is reported. Due to a fetal heart defect the parents decided in favour of an induced abortion. Postmortem, a molecular cytogenetic study on eleven formalin fixed, paraffin-embedded tissues of the fetus was performed, to further characterize the levels of mosaicism of the sSMC(1). sSMC presence varied between 13 and 62% within different tissues of sSMC carriers. This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established. Copyright © 2007 John Wiley & Sons, Ltd.     

5个中国人群Y染色体上17个双等位基因位点的多态性分析

选取Y染色体非重组区上17个双等位基因位点,利用ASPCR和PCR的方法对云南的怒族、傈僳族、纳西族、青海的撒拉族和福建的畲族进行了检测分型,确定了每一个体由这17个位点所构成的单倍型,并与国内其它20个民族群体的结果一起进行了主成分分析.结果显示,YAP、M15、M89、M9、M119、M95、M88、M45、M122、M134、M17、M120等12个位点在5个民族群体中均有不同的频率分布,其余5个位点没有发现多态变异,其中M122(C)在怒族、傈僳族、纳西族、撒拉族和畲族中的频率分别是82.1%、31.6%、5.9%、20%、69.3%;YAP 只在撒拉族中有2.2%的频率;傈僳族的M95(T)的频率最高,达68.4%.5个群体中共发现了12种单倍型,单倍型频率主要集中分布在H5、H6、H8、H11和H12,各民族群体的单倍型有各自的分布特点.主成分分析的结果显示:傈僳族则与苗瑶、侗壮语族的民族群体聚到了A簇;畲族、怒族与汉族群体紧密,聚到了B簇;而撒拉族、纳西族则与藏缅语族和阿尔泰语系的民族群体聚为C簇.图1表2参20     

微生物污染源解析技术研究进展

针对目前新兴的微生物污染源解析技术（MST）研究进展进行了归纳总结.结果表明,标记物的源强特征显著影响水体微生物污染水平的评估,选用标记物时应同时考虑灵敏度和源强特征;与非目标物种样品产生交叉反应导致标记物特异性降低,可通过稀释样品或DNA纯化等手段降低假阳性信号强度;粪便源解析文库（FTL）中应涵盖的宿主种类,以及每类宿主应纳入的个体数量均会影响建库源解析结果的准确性,可通过权重分析来确定源文库中各宿主应囊括的样本量,提高识别污染源的准确性;FTL中的物种与土著微生物分类较为接近时,SourceTracker难以准确区分微生物污染来源,将土著微生物信息纳入FTL并多次运行程序可提高SourceTracker识别污染源的能力.未来应加强对标记物灵敏度和源强特征之间相关关系的研究,同时探讨标记物源强特征产生差异的成因以及交叉反应产生的机理;另一方面,应深入探究粪源微生物种内变异程度和土著微生物的种类对建库源解析法的影响机制,以期建立准确、完善的微生物污染源解析技术.     

Heavy metal induced DNA changes in aquatic macrophytes： Random amplified polymorphic DNA analysis and identification of sequence characterized amplified region marker

Plants have been used as good bio-indicators and genetic toxicity of environmental pollution in recent years. In this study, aquatic plants Hydrilla verticillata and Ceratophyllum demersum treated with 10 μmol/L Cd, 5 μmol/L Hg, and 20 μmol/L Cu for 96 h, showed changes in chlorophyll, protein content, and in DNA profiles. The changes in DNA profiles included variation in band intensity, presence or absence of certain bands and even appearance of new bands. Genomic template stability test performed for the ...     

Irregular brood patterns and worker reproduction in social wasps

The potential for reproductive conflict among colony members exists in all social insect societies. For example, queens and workers may be in conflict over the production of males within colonies. Kin selection theory predicts that in a colony headed by a multiply-mated queen, worker reproduction is prevented by worker policing in the form of differential oophagy. However, few studies have demonstrated that workers actually lay eggs within queenright colonies. The purpose of this study was to determine if workers laid male eggs within unmanipulated queen-right colonies of the polyandrous social wasps Vespula maculifrons and V. squamosa. We focused our analysis on an unusual brood pattern within colonies, multiple egg cells. We were primarily interested in determining if individuals reared in these irregular circumstances were queen or worker offspring. To address this question, we genotyped 318 eggs from eight V. maculifrons and two V. squamosa colonies. No worker‑reproduction was detected in any of the queenright colonies; all of the eggs found in multiple egg cells were consistent with being queen‑produced. However, the frequency of multiple egg cells differed among colonies, suggesting that queens vary in the frequency of errors they make when laying eggs within cells. Finally, we suggest that workers may not be laying eggs within queenright colonies and that worker reproduction may be controlled through mechanisms other than differential oophagy in polyandrous Vespula wasps.     

城市污水处理厂恶臭挥发性羰基化合物的排放特征

选取广州市猎德污水处理厂进行为期4 d的现场采样,采用PFPH衍生化-GC/MS联用技术分析恶臭挥发性羰基化合物的组成特征和含量水平,研究它们的排放特征.结果表明,在该污水处理厂共检测出18种羰基化合物,其中具有恶臭气味的组分包括15种,它们在6个处理车间的浓度范围为0.39～19.92μg·m-3,总浓度均值为（68.66±10.05）μg·m-3.采取归一化方法获得了该类污染源的恶臭挥发性羰基化合物成分谱,并发现了分子标志物为甲醛、乙醛、丙醛、2-丁酮、丁醛和己醛,它们占该成分谱总含量的78.91%,其中己醛含量最高,浓度均值达到11.71μg·m-3.应用恶臭面源源强的计算方法,估算出该污水处理厂恶臭挥发性羰基化合物的年排放总量为2 302.33 kg·a-1,各车间的排放量贡献率由高至低为：生化池〉浓缩池〉A级曝气池〉提升泵房〉沉砂池〉脱水机房.由于污水处理厂的恶臭污染排放过程较为复杂,因此在一定程度上影响了排放量估算的准确度.     

Brief exposure to copper induces apoptosis and alters mediators of olfactory signal transduction in coho salmon

Pacific salmon are particularly susceptible to copper (Cu)-induced olfactory injuries that can ultimately inhibit neurobehaviors critical to survival. However, the molecular mechanisms underlying Cu-mediated olfactory impairment remain poorly understood. In the present study, we conducted a short-term Cu exposure at levels relevant to urban runoff (5, 25 and 50 ppb) , and investigated the roles of impaired olfactory signal transduction and induced apoptosis as underlying mechanisms of olfactory injury. Increased cell death in the olfactory epithelium was evident in coho receiving 4 h exposures to 25 and 50 ppb Cu. Expression of olfactory marker protein (omp), a marker of mature olfactory sensory neurons, also decreased at 50 ppb Cu. Immunohistochemical analysis of coho olfactory epithelium demonstrated a loss of type 3 adenylate cyclase (ACIII) in the apical olfactory epithelium cilia at all levels of Cu exposure, suggesting an inhibitory effect of Cu in olfactory signaling. Accompanying the loss of ACIII in Cu-exposed coho were reduced intracellular cyclic guanosine monophosphate (cGMP) levels in the olfactory rosettes. Collectively, these results support a linkage among the initial steps of olfactory signaling in Cu-induced salmon olfactory injury, and suggesting that monitoring olfactory cGMP levels may aid in the assessment of salmon olfactory injury.     

Linear alkylbenzenes in riverine runoff of the Pearl River Delta (China) and their application as anthropogenic molecular markers in coastal environments

The average concentrations of ∑LABs (sum of C₁₀-C₁₃-LABs) in runoff samples collected from the eight major riverine outlets of the Pearl River Delta (PRD) of China ranged from 1.4 to 6124 ng/L in the dissolved phase and from 0.01 to 11.4 μg/g dry weight in the particulate phase during March 2005-February 2006. The annual riverine flux of ∑LABs from the PRD to the coastal ocean was estimated at approximately 14 tons/yr. The inventories of ∑LABs in agricultural lands of Guangdong Province ranged from 313 to 1825 kg/yr. The early and late rice fields were the major sink of LABs, accounting for approximately 68% of total LABs inventory in agricultural lands. The social-economically estimated annual discharge of LABs from household detergents in the PRD was ∼696 tons/yr, more than an order of magnitude higher than that estimated from field measurements (about 14 tons/yr), which was attributed to several factors.