Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18

A case of complete karyotype discrepancy between cultured chorionic villi and amniotic in addition to fetal cells is reported. Ring chromosome 18 and monosomy 18 mosaicism was detected after amniocentesis. The pregnancy was terminated in the 23rd gestational week. Cytogenetic analysis of cultured umbilical cord tissue after termination confirmed the finding of ring chromosome 18/monosomy 18 mosaicism. In cultured umbilical blood lymphocytes monosomic cells 45,-18 were not detected and the karyotype was 46,XY,r(18). In contrast, short-term and long-term cultured chorionic villi showed a normal male karyotype of 46,XY. Ultrasonographic examination revealed amniotic band syndrome and scoliosis in the caudal region of the spine. Copyright © 2001 John Wiley & Sons, Ltd.     

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.     

甲醛对洋葱根尖细胞的遗传毒性效应

将不同浓度(0.1%、1.0%、1.5%和3%)的甲醛溶液作为诱变剂,分别处理洋葱根尖24、36和48 h.通过常规染色体压片技术,观察洋葱根尖细胞有丝分裂现象.研究甲醛对洋葱根尖细胞有丝分裂指数(MI)和染色体畸变的影响,探讨甲醛的遗传毒性和洋葱作为甲醛污染指示植物的可行性.结果表明:不同浓度的甲醛溶液均能使洋葱根尖...     

Treatment of Olive Mill Wastewaters by Pseudomonas putida mt-2: Toxicity Assessment of Untreated and Treated Effluent

Abstract The aim of this work was to examine the performance of Pseudomonas putida mt-2 in treating olive mill wastewater (OMW) effluent after dilution with sterilized water (33%, v/v) to reduce its bactericide effect. P. putida significantly reduced the color and phenolic compounds in OMW by 75% and 66%, respectively. Dissolved chemical oxygen demand and biochemical oxygen demand removals reached 85.3% and 92.5%, respectively. Genotoxicity of OMW, before and after biodegradation with P. putida mt-2, was evaluated in vitro, using SOS chromotest, and in vivo, in mouse bone marrow, by assessing the percentage of cells bearing different chromosome aberrations. Results indicated that OMW showed a significant ability to induce DNA damage, evaluated by SOS and chromosome aberration assay systems. This toxicity was imputed to the presence of phenolic compounds of OMW. However, the toxicity of OMW was significantly reduced after 48?h of aerobic incubation with P. putida mt-2. The present study demonstrates that P...     

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     

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd.     

蚕豆根尖微核技术的方法学新论

虽然蚕豆根尖微核技术已是一个成熟规范的检测污染物遗传毒性的方法,但其中仍涉及一些重要的方法学问题值得深入探讨和研究。本文在图示正确观测蚕豆根尖细胞内微核和染色体畸变,如染色体断裂、丢失及染色体桥等的基础上,提出应该对蚕豆根尖分裂相细胞及其染色体畸变进行观测,以便更加准确、细致地反映污染物作用的剂量-效应关系和分子机制。同时还就该方法的其他重要问题提出了自己的观点,供同行们深入探讨和研究,使之不断完善,更好地服务于环境监测和风险评价等领域。