Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.     

Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures

Cultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addition of 10μM 5′;-bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome.     

Effects of Zn2+ on root growth,cell division, and nucleoli of Allium cepa L.

The effects of different concentrations of Zn²⁺ion on root growth,cell division,and nucleoli of Allium cepa were studied. The test Zn²⁺ ion concentration was made up from zinc sulphate (ZnSO₄. 7H₂O) ranging from 10^-7 to 10^-2 mol/L. The solutions were prepared in tap water (pH =6. 5).The results indicated that Zn²⁺ could obviously inhibit root growth at concentrations from 10^-4)to 10^-2 mol/L.Roots treated with zinc sulphate showed the presence of c-mitosis, anaphase bridges,including sticky and fluidized bridges (at 10^-3 to 10^-2 mol/L) , chromosome stickiness, irregularly shaped nuclei, broken nuclei and micronuclei. A toxicity effect was also observed on the nucleoli using silver staining technique after 48h of treatment with 10^-4to 10^-2 mol/L Zn²⁺, e. g,the nucleolar particulate material scattered around the nucleoli in the nucleus of root tip cells.     

Assessment of the in vivo genotoxicity of a new formulation of Bacillus thuringiensis var israelensis SH-14

Biological control agents have become a useful alternative for the reduction of the use of chemical insecticides. LABIOFAM (Cuba) is developing a new formulation of a biolarvicide that possesses as active biological agent Bacillus thuringiensis var israelensis serotype H14. In order to evaluate the genotoxicity of this new formulation, an in vivo battery test was used: micronucleus (MN), chromosome aberrations (CAs), and sperm morphology (SM) assays. A dose of 6.45?×?10⁸ spores was administered per animal via oral administration. Bone marrow cells were collected 24?h after a two day treatment for the MN assay, and 24?h after a unique treatment for the CA assay, using cyclophosphamide as the positive control. Sperm cells were collected at 5 weeks from the first of five administrations for the SM test, using acrylamide as positive control. Bacillus thuringiensis var israelensis serotype H14 failed to show either a significative increase of micronucleated polychromatic erythrocytes, chromosomal aberrations, or sperm abnormalities. Acute oral administration of a high dose of Bacillus thuringiensis var israelensis serotype H14 did not produce mutagenic effects in bone marrow or sperm cells.     

基于动态数据驱动的煤矿瓦斯异常涌出风险预警系统设计*

为解决煤矿瓦斯异常涌出风险预警过程中过度依赖系统模型,不能动态实时修正预测模型,预测、预报精准度和可靠度不高的难题,基于动态数据驱动技术,搭建瓦斯异常涌出风险预警系统架构,探讨动态数据驱动的瓦斯涌出监测曲线拟合、动态预警模型选择和修正、预警系统研发等关键性技术,开发基于动态数据驱动的瓦斯异常涌出风险预警系统软件。结果表明:动态数据驱动技术在煤矿瓦斯异常涌出风险预警方面具有强大的信息处理和问题求解能力,可实现仿真系统与实际系统间的动态响应和控制功能,并实时反馈修正,使预测结果更加精确、可靠,设计研发的预警系统可在矿井受瓦斯异常涌出威胁时发出可靠的预警信号。     

Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester

In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three fetuses had an unbalanced translocation and all were associated with increased nuchal translucency and multiple anomalies at the detailed second-trimester scan. There were no survivors in this group. The remaining four fetuses had a balanced translocation; all had normal nuchal translucency thickness and no structural anomalies were detected in the second trimester. Three of these fetuses were born at ≥35 weeks of gestation and were phenotypically normal. However, an unexpected single fetal demise occurred in a dichorionic twin pregnancy at 28 weeks of gestation. It is concluded that nuchal translucency measurements provide important prognostic information on pregnancy outcome in first-trimester fetuses with a chromosome translocation. In parents with a known balanced translocation, the detection of increased nuchal translucency at 11–14 weeks of gestation is associated with unbalanced translocations, structural anomalies and poor pregnancy outcome. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.