Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd.     

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.     

The apportionment of quadratic entropy: a useful alternative for partitioning diversity in ecological data

Many methods that study the diversity within hierarchically structured populations have been developed in genetics. Among them, the analysis of molecular variance (AMOVA) (Excoffier et al., 1992) has the advantage of including evolutionary distances between individuals. AMOVA is a special case of a far more general statistical scheme produced by Rao (1982a; 1986) and called the apportionment of quadratic entropy (APQE). It links diversity and dissimilarity and allows the decomposition of diversity according to a given hierarchy. We apply this framework to ecological data showing that APQE may be very useful for studying diversity at various spatial scales. Moreover, the quadratic entropy has a critical advantage over usual diversity indices because it takes into account differences between species. Finally, the differences that can be incorporated in APQE may be either taxonomic or functional (biological traits), which may be of critical interest for ecologists.     

Soil Lead at Elementary Public Schools: Comparison Between School Properties and Residential Neighbourhoods of New Orleans

Soil studies, conducted in Maryland, Minnesota and Louisiana, have described the urban pattern of lead contamination. They have shown that the highest amounts of lead cluster within the interior of the largest cities. The results of the New Orleans urban patterns of distribution of soil lead provided the basis for further study. The hypothesis was tested that elementary school properties have the same pattern of soil lead contamination as their neighbouring residential communities. Thirty New Orleans Public Elementary Schools were selected for this study. Surface samples (2.5cm or 1 inch depth) were collected from playgrounds and next to entrances of each school. Results showed that soil lead on school properties follows the same relative contamination patterns (pvalue10^–5) as soil lead on residential properties of neighbouring communities. Schools however, have significantly lower lead contamination than the neighbouring residential properties. Innercity school properties present a higher risk of soil lead exposure than mid and outercity schools. Soils next to innercity school entrances showed the highest lead, with 18.5% having concentrations over 400gg^–1. Systematic landscaping around the school entrances would significantly reduce the hazard from lead dust contaminated soils.     

福建泉州湾有机氯农药的多介质迁移与归趋

以α-HCH与p,p'-DDT为主要研究对象,以泉州湾及其重要汇水流域--晋江流域为研究区域,构建了Level Ⅲ多介质非平衡稳态逸度模型,对该区域α-HCH与p,p'-DDT在各环境相中浓度、容纳能力、储量分布及各相间的迁移通量进行了计算分析,并对模型关键输入参数的灵敏度进行了探讨.结果显示：α-HCH与p,p'-DDT在土壤相,水相以及沉积物相中的模拟计算浓度与野外样品实测平均浓度吻合度较高,验证了模型的有效性;当研究系统达到平衡时,环境各相对α-HCH与p,p'-DDT容纳能力由大到小分别为沉积物,土壤,水及空气; α-HCH在土壤与沉积物中的储量之和为总储量的97.42%, p,p'-DDT则为99.89%,是其主要的汇区;α-HCH与p,p'-DDT从研究区域迁移消逝的主要途径为水的平流输出,在环境相间迁移过程中,α-HCH的主要迁移途径为水体向大气的迁移,而p,p'-DDT的主要迁移途径为水体向沉积物的迁移;灵敏度分析指出辛醇-水分配系数对数值logK_ow是影响污染物在环境相中浓度分布的最主要因素.     

丙烯腈诱导的氧化应激对大鼠睾丸NF-κB信号通路的影响

为探索丙烯腈(acrylonitrile,ACN)诱导的氧化应激对大鼠睾丸NF-κB信号通路的影响,将50只SPF级健康SD雄性大鼠按体重随机分为12.5、25、50 mg·kg~(-1)ACN染毒组,50 mg·kg~(-1)ACN+300 mg·kg~(-1)N-乙酰半胱氨酸(N-acetylcysteine,NAC)干预组(NAC干预组),对照组(给予等体积玉米油),每组10只,灌胃,1次/天,6天/周,共90 d。可见光分光光度法检测睾丸组织中超氧化物歧化酶(superoxide dismutase,SOD)、谷胱甘肽过氧化物酶(glutathione peroxidase,GSH-Px)、还原型谷胱甘肽/氧化型谷胱甘肽比值(glutathione/oxidized glutathione,GSH/GSSG)、丙二醛(malondialdehyde,MDA)。免疫荧光染色法检测睾丸核因子-κB(nuclear factorκB,NF-κB)激活及核转移。Western Blot检测睾丸p65、IκB蛋白表达。结果显示,低、高剂量染毒组大鼠睾丸GSH/GSSG比值、GSH-Px酶活性与对照组比较降低(P0.05)。中、高剂量染毒组大鼠睾丸MDA含量与对照组比较升高(P0.05)。NAC干预组大鼠睾丸MDA含量与高ACN组比较降低(P0.05);NAC干预组大鼠睾丸GSH/GSSG比值与高ACN组比较升高(P0.05);免疫荧光结果显示,高ACN组大鼠睾丸NF-κB被激活,并转移入细胞核。NAC干预组与高ACN组比较p65蛋白表达及核转移显著减少。Western Blot结果显示,高剂量染毒组大鼠睾丸p65蛋白表达与对照组比较升高(P0.05),IκB蛋白表达与对照组比较降低(P0.05);NAC干预组大鼠睾丸p65蛋白表达与高ACN组比较降低,IκB蛋白表达与高ACN组比较升高,差异有统计学意义(P0.05)。结果表明丙烯腈引起的氧化应激激活了大鼠睾丸生殖细胞NF-κB信号通路。     

甲醛对原癌基因c-myc、MDM2及抑癌基因p53的影响

为研究吸入性甲醛的毒性能否进入动物骨髓组织,引起骨髓组织基因表达发生改变,选择小鼠某些原癌基因和抑癌基因为研究对象,以SPF级balb/c雄性小鼠为材料,采用动态吸入方式染毒2周(5+2模式),染毒浓度分别为0, 0.5, 3.0mg/m3,用半定量RT-PCR方法检测不同浓度甲醛对小鼠染毒后骨髓组织细胞中c-myc、MDM2和p53基因表达的变化.结果表明,在不同浓度的甲醛暴露条件下,与空白对照组相比,小鼠骨髓组织中的c-myc基因,MDM2基因和p53基因表达均发生改变,在3.0mg/m3浓度组与空白对照组存在显著差异(P<0.05), c-myc基因,MDM2基因呈现表达上调,p53基因则呈现表达下调.吸入性甲醛的毒性能进入动物骨髓组织,并能引起骨髓组织基因表达发生改变.     

环境雌激素o,p′-DDT和抗雌激素氟维司群对斑马鱼胚胎的复合效应

为探究雌激素与抗雌激素的复合效应,将斑马鱼(Danio rerio)的胚胎暴露于o,p′-DDT和氟维司群2种典型的环境内分泌干扰物中,考察胚胎孵化率、孵化时间和总畸形率,并用实时荧光定量PCR技术检测Vtg1、Vtg2和ERα等雌激素效应相关基因的mRNA转录水平.结果显示,与单一化合物的暴露相比,o,p′-DDT和...