Structural chromosomal mosaicism and prenatal diagnosis

True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd.     

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     

Evaluation of X,Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.     

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。     

A study on genotoxicity of textile dyeing industry effluents from Rajshahi,Bangladesh, by the Allium cepa test

Textile dye effluents are believed to be toxic as they might exert various harmful effects on living organisms including genotoxicity. These effluents are the main source of direct and continuous input of pollutants into the aquatic ecosystems. In this study, dye effluents from a local silk dyeing industry were analysed for their genotoxic potential by the Allium cepa genotoxicity test. The A. cepa test is characterised as a genotoxicity test where the roots of A. cepa are grown in different concentrations of the test material. The macroscopic results clearly showed that the toxicity of the dye effluents prompted A. cepa root growth inhibition, and this effect increased with higher concentrations of the effluents. At the cellular level, no dividing cells were found at higher concentrations such as 60%, 80% and 100% of the effluents. However, at a lower concentration of 20%, dividing cells were identified, although the mitotic index was much lower than that of the control. Microscopic analysis showed that the dye effluents induced chromosomal aberrations at significant levels. Taken together, these results revealed that the textile dyeing industry effluents are toxic to eukaryotic cells and these dyes have genotoxic properties that can potentially lead to cancer development and adverse health conditions.     

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。