Uncommon chromosomal mosaicism in chorionic villi

Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues.     

Effects of Ca2+ ions antagonistic to Al3+ ions poisoningin root growth , cell division and nucleolusin root tip cells of Allium cepa

The effects of different aluminium chloride concentrations together with varying calciumchloride concentrations on root growth, cell division and nucleoli in root tip cells of Allium cepa werestudied. The concentrations used for aluminium chloride were 10^-4, 10^-3 and 10^-2 mol/L ; and for calcium chloride were 10^-5 , 10^-4 , 10^-3 and 10^-2 mol/L, respectively. The results showed that after thetreatments with 10^-2 to 10^-3 mol/L Al³⁺ , root growth was severely inhibited , a large nurnber of thecells with c-mitosis were induced and the nucleolar material was extruded from the nucleus into the cytoplasm. However , the treatments with 10^-2 to 10^-3 mol/L of Al³⁺ together with 10^-2)to 10^-5 mol/LCa²⁺ suggested that Ca²⁺ gave the obviously protective effects against Al³⁺ poisoning in root growth.cell division and nucleoli of the root tip cells in A. cepa. The possible mechanism of these protective effects of Ca²⁺) is also briefly discussed.     

Exclusion of chromosomal mosaicism in amniotic fluid cultures: Efficacy of in situ versus flask techniques

Accurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False-positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male-female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two-stage approach used by many laboratories is currently the most efficient way to exclude mosaicism.     

Adaptive-filtering of trisomy 21: risk of Down syndrome depends on family size and age of previous child

The neonatal incidence rate of Down syndrome (DS) is well-known to accelerate strongly with maternal age. This non-linearity renders mere accumulation of defects at recombination during prolonged first meiotic prophase implausible as an explanation for DS rate increase with maternal age, but might be anticipated from chromosomal drive (CD) for trisomy 21. Alternatively, as there is selection against genetically disadvantaged embryos, the screening system that eliminates embryos with trisomy 21 might decay with maternal age. In this paper, we provide the first evidence for relaxed filtering stringency (RFS) to represent an adaptive maternal response that could explain accelerating DS rates with maternal age. Using historical data, we show that the proportion of aberrant live births decrease with increased family size in older mothers, that inter-birth intervals are longer before affected neonates than before normal ones, and that primiparae exhibit elevated levels of DS incidence at higher age. These findings are predicted by adaptive RFS but cannot be explained by the currently available alternative non-adaptive hypotheses, including CD. The identification of the relaxation control mechanism and therapeutic restoration of a stringent screen may have considerable medical implications.     

高压输电线路跨越建筑物工频电场研究

当高压输电线路跨越或邻近建筑物时,线路下方区域工频电场会发生不同程度的畸变,此时,传统的二维模型已无法正确描述该情况时线路下方工频电场的分布。利用自编仿真软件进行模拟,并结合实测数据,研究和分析高压输电线路跨越或邻近建筑物时线路下方的工频电场分布和变化趋势。     

Mutagenicity evaluation of chemical pesticides

Abstract

Over the last few decades, the use of chemical pesticides has increased dramatically in the U.S. This relatively sudden increase greatly concerns the U.S. Environmental Protection Agency (EPA), since it has the responsibility for ensuring the safety of all pesticides used in the U.S. In response to this concern, EPA has established a review program, the Rebuttable Presumption Against Registration (RPAR), for periodically reassessing the mutagenic and carcinogenic potential of pesticide compounds.

This paper presents a review and evaluation of the data reported in the literature on six chemical pesticides suspect for mutagenic potential. The pesticide chemicals discussed are maleic hydrazide; rotenone; monuron; diallate; triallate, and benomyl.     

氟化物对植物生理生化的影响

综述了氟化物对植物的光合作用、时吸作用、膜生理和有机物的代谢等生理过程，及异常衰老和遗传变异的影响，并提出了今后的研究方向。     

白眉蝮蛇毒精氨酸酯酶对CHL细胞增殖抑制和染色体畸变的影响

研究了蝮蛇清栓酶的有效成分精氨酸酯酶体外对中国仓鼠肺成纤维细胞 (CHL)增殖和染色体畸变的影响 .精氨酸酯酶的浓度以酶活单位U表示 .细胞增殖抑制试验和染色体畸变试验都用两种方法 :直接法和代谢活性法 .精氨酸酯酶设 3个浓度 :1.0× 10 -3 U /mL ,0 .5× 10 -3 U /mL和 0 .2 5× 10 -3U/mL .其中最高浓度比临床治疗浓度高约10 0倍 .细胞增殖抑制试验采用细胞贴壁培养 ,乙醇固定 ,结晶紫染色 ,单层细胞密度计测定细胞密度 .染色体畸变试验采用给药后 2 4h和 48h收集中期分裂细胞 ,低渗固定 ,制片 ,Giemsa染色 ,观察 10 0个中期分裂细胞的染色体结构异常及多倍体的出现率 .试验结果表明 ,精氨酸酯酶在上述浓度对CHL细胞的增殖没有抑制作用 ,对CHL细胞的染色体结构也没有影响 .表 2参 10     

Early amniocentesis—a cytogenetic evaluation of over 1500 cases

We report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14·5 days. Karyotyping was successful in 99·7 per cent of cases. In 9·9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X-chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0·5 per cent. The overall aberration rate was 2·8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).     

环磷酰胺等三种化学物诱发褐斑大蠊染色体畸变分析

染色体的畸变分析是一种简便易行,经济的遗传毒理学方法,可用来探讨诱变物对生物遗传系统的影响。目前人们多利用鼠类、赤麂及人的培养细胞来进行染色体畸变分析,其它材料很少见,蜚蠊(俗称蟑螂)是一种重要的卫生昆虫,也是一种较好的遗传学研究材料,其分布广泛,与人的日常生活环境密切相关,能否利用它作为一种污染的监测因子呢?我们利用褐斑大蠊(Periplaneta brunnea,Burmeister 1838)进行了初步尝试。