Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations

The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable facial dysmorphisms and identical cytogenetic abnormality—a derivative (7) t(1;7) (q32;q32) inherited from the father. The proband 1 showed a small mouth, a single median eye and a proboscis above the eye, while the proband 2 showed hypotelorism, a flat nose, cleft lip and cleft palate. Both fetuses also had alobar holoprosencephaly. Haploinsufficiency of the sonic hedgehog gene at 7q36 does account for the occurrence of holoprosencephaly in the two fetuses with a deletion of distal 7q (7q32 → qter). Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' karyotypes were normal, indicating a de novo origin for this unbalanced rearrangement. Complementary studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in the trisomic region. Autopsy performed after termination of pregnancy revealed isolated overgrowth and absence of visceral malformations. The possible mechanisms and origins for the formation of this mosaic pure trisomy are complex. The present observation emphasises the hypothesis that the overgrowth phenotype, frequently reported in patients with trisomy including the 15q26 region, might be causally related to a dosage effect of the IGF1R gene, as well as the importance of chromosome analysis in patients with overgrowth. It also confirms that the overgrowth is of prenatal onset in those observations. Copyright © 2004 John Wiley & Sons, Ltd.     

生物强化膜生物反应器(MBR)处理邻苯二甲酸二乙酯(DEP)效果及微生物群落结构分析

为强化邻苯二甲酸二乙酯(DEP)降解,将从活性污泥中分离的高效DEP降解菌Arthrobacter sp.LMS13运用到MBR反应器,考察强化系统对DEP去除效果,并通过实时荧光定量(q-PCR)和Illumina Mi Seq技术分别对系统运行期间邻苯二甲酸双加氧酶降解基因(phtA)数量以及微生物群落结构特征进行了分析.结果表明,强化系统能加快反应器启动,对进水浓度为800 mg·L-1的DEP,强化系统和未经强化系统在运行后期(61 d)对DEP平均去除率分别为81%和19%.q-PCR结果显示,在驯化阶段,phtA基因拷贝数上升,但当DEP浓度大于400 mg·L-1时,phtA基因数量下降;phtA基因拷贝数与DEP降解率呈正相关.Mi Seq测序结果进一步表明,高浓度DEP导致系统中群落多样性指数下降,但对强化系统多样性影响相对较小.反应器运行过程中,原活性污泥中占有较高比例的拟杆菌门(Bateroidetes)和厚壁菌门(Firmicutes)丰度降低,ε-变形纲(ε-Proteobacteria)、绿弯菌门(Chloroflexi)在反应系统中逐渐被淘汰,而β-变形纲(β-Proteobacteria)和放线菌门(Actinobacteria)成为系统中的优势菌门,其中红环菌属(Rhodocyclus)、博得氏杆菌属(Bordetella)、节杆菌属(Arthrobacter)为优势菌属,在DEP降解系统中起着主要作用,是保证DEP生物处理效果和维持反应器稳定运行的重要菌属.     

Quantification of microcystin-producing and non-microcystin producing Microcystis populations during the 2009 and 2010 blooms in Lake Taihu using quantitative real-time PCR

Lake Taihu, a large, shallow hypertrophic freshwater lake in eastern China, has experienced lake-wide toxic cyanobacterial blooms annually during summer season in the past decades. Spatial changes in the abundance of hepatotoxin microcystin-producing and non-microcystin producing Microcystis populations were investigated in the lake in August of 2009 and 2010. To monitor the densities of the total Microcystis population and the potential microcystin-producing subpopulation, we used a quantitative real-time PCR assay targeting the phycocyanin intergenic spacer (PC-IGS) and the microcystin synthetase gene (mcyD), respectively. On the basis of quantification by real-time PCR analysis, the abundance of potential toxic Microcystis genotypes and the ratio of the mcyD subpopulation to the total Microcystis varied significantly, from 4.08× 10⁴ to 5.22× 10⁷ copies/mL, from 5.7% to 65.8%, respectively. Correlation analysis showed a strong positive relationship between chlorophyll-a, toxic Microcystis and total Microcystis; the abundance of toxic Microcystis correlated positively with total phosphorus and ortho-phosphate concentrations, but negatively with TN:TP ratio and nitrate concentrations. Meanwhile the proportion of potential toxic genotypes within Microcystis population showed positive correlation with total phosphorus and ortho-phosphate concentrations. Our data suggest that increased phosphorus loading may be a significant factor promoting the occurrence of toxic Microcystis bloom in Lake Taihu.     

Gene expression profiling of human liver carcinoma (HepG2) cells exposed to the marine toxin okadaic acid

The marine toxin, okadaic acid (OA) is produced by dinoflagellates of the genera Prorocentrum and Dinophysis and is the causative agent of the syndrome known as diarrheic shellfish poisoning. In addition, OA acts as both a tumor promoter, attributed to OA-induced inhibition of protein phosphatases as well as an inducer of apoptosis. To better understand the potentially divergent toxicological profile of OA, the concentration-dependent cytotoxicity and alterations in gene expression on the human liver tumor cell line HepG2 upon OA exposure were determined using RNA microarrays, DNA fragmentation, and cell proliferation assays as well as determinations of cell detachment and cell death in different concentrations of OA. mRNA expression was quantified for approximately 15,000 genes. Cell attachment and proliferation were both negatively correlated with OA concentration. Detached cells displayed necrotic DNA signatures but apoptosis also was broadly observed. Data suggest that OA has a concentration dependent effect on cell cycle, which might explain the divergent effects that at low concentration OA stimulates genes involved in the cell cycle and at high concentrations it stimulates apoptosis.     

十字花科蔬菜BcMF13同源基因的克隆及进化分析

在十字花科芸薹属的8个物种中扩增到与十字花科蔬菜花粉发育相关的一个重要基因BcMF13(GenBank登陆号:EF158459)的同源序列,获得8个同源序列的DNA序列全长602～607 bp,均含有一个内含子区,编码73个氨基酸,在内含子区内存在1个插入/缺失、5处颠换、4处转换.对8个同源基因的氨基酸比对发现该基因在十字花科物种内有很强的保守性.基于Kimura双参数距离,构建了BcMF13同源基因在十字花科中进化的NJ系统树,反映出南方大白菜与北方大白菜存在不同的演化过程.