Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome of >1 in 10. The maternal serum human chorionic gonadotrophin (MShCG) was markedly elevated at 4.19 MoM. Amniocentesis revealed a normal 46,XX karyotype. Fetal growth restriction has been associated with elevated MShCG and placental aneuploidy with CPM for chromosomes 2, 7, 9 and 16. The present case of CPM for chromosome 14 was also associated with fetal growth restriction and elevated second trimester MShCG, suggesting a common link. Further studies need to be done to determine if indeed elevation of second trimester MShCG is associated with increased risk of CPM. The present case again demonstrates the need to perform placental karyotype in unexplained fetal growth restriction. Copyright © 2001 John Wiley & Sons, Ltd.     

21世纪住区建设

面对世界发展趋势和中国建设高潮期,21世纪住宅建设需体现可持续发展,引入信息技术和新材料等高新技术,适应居住生活的发展。本文概述了当前世界发展趋势和国家住宅建设目标,住宅建设面临的科技问题,着重论述21世纪住区建设的规划设计原则。     

Unexpected structural chromosome rearrangements in prenatal diagnosis

Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.     

Rare cell isolation using antibodies covalently linked to slides: application to fetal cells in maternal blood

We describe here a new type of method for isolation of rare cell populations in biological fluids. The method is based on the anthraquinone technology for covalent binding of molecules to a polymer surface. An anthraquinone molecule conjugated via a linker to an electrophilic group (AQ Immobilizer™ reagent, Exiqon A/S) is covalently bound to a polymer surface by UV irradiation. The electrophilic group of this AQ reagent can covalently bind a specific antibody directed against a specific cell marker. Applying a cell sample to the functional surface, the cells having the specific cell marker on the cell surface will bind to the antibody on the functional surface. Using this technique, even extremely small cell populations may be isolated. We succeeded in isolating fetal cells from maternal blood samples in the first trimester for chromosome defects genetic diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.     

九孔鲍摄食江蓠与人工配合饵料的能量收支比较

通过投喂江蓠 (Gracilariaceaelicheniodes)和配合饵料对九孔鲍 (Haliotisdiversicoloraquatilis)的能量收支进行了比较研究 .结果表明 :两种饲料组的九孔鲍耗氧率在昼夜之间均并没有明显差异 (P >0 .0 5 ) ,九孔鲍摄食两种饵料的吸收率也没有显著差异 (P >0 .0 5 ) ,而饵料系数、蛋白质效率、总生长效率则有显著的差异 (P <0 .0 5 ) .配合饵料组的排泄能显著高于江篱组的 (P <0 .0 5 ) ,而代谢能和粘液能却显著低于江篱组的 (P <0 .0 5 ) ,两组饲料的排粪能和壳能没有显著差异 (P >0 .0 5 ) .因壳能很少 ,在测定中可以忽略 .配合饵料组的软体部生长能显著高于江篱组的 (P <0 .0 5 ) .摄食江蓠和配合饵料的九孔鲍能量收支方程分别为 :江蓠组10 0C =(12 .76± 1.2 2 )F (76 .4 7± 5 .33)R (2 .74± 0 .4 0 )U (6 .75± 0 .4 6 )M (2 .78± 0 .4 8)Pg (0 .0 3±0 .0 1)Psh- (1.5 3± 4 .19)配合饵料组10 0C =(12 .15± 1.6 9)F (5 4 .94± 5 .10 )R (4.5 0± 0 .70 )U (3.99± 0 .0 7)M (2 9.79± 4 .77)Pg (0 .0 3±0 .0 1)Psh- (5 .4 0± 7.4 3)     

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     

Distribution of Poly(β-propiolactone) Aerobic Degrading Microorganisms in Different Environments

The distribution of degading microorganisms of high molecular weight poly(-propiolactone) (PPL), whose individual structural units are similar to those of poly(-hydroxybutyrate) (PHB) and poly(€-caprolactone) (PCL), was examined. Despite the fact that PPL is a chemosynthetic polymer, many kinds of PPL-degrading microorganisms were found to be distributed as resident populations widely in natural environments. A total of 77 strains of PPL-degrading microorganisms was isolated. From standard physiological and biochemical tests, at least 41 strains were referred to as Bacillus species. Microbial degradation of fibrous PPL proceeded rapidly in some enrichment cultures but was not as complete as that of PHB. Most of the isolated PPL-degrading microorganisms were determined to be PCL degraders and/or PHB degraders. Therefore, it can be assumed that mostly PPL is recognized by the microorganisms as PHB or another natural substrate of the same type as which PCL is regarded. Microbial degradation of PPL was confirmed by some Bacillus strains from type culture collections. The similarity of microbial degradation between PPL and PCL was found to be very close.     

Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: A prospective study

A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as normal or abnormal; the results were subsequently checked against the cytogenetic findings. Four hundred and ninety-three were correctly identified as normal with an 86·6 per cent average frequency of scored nuclei exhibiting two signals; six cases were correctly identified as trisomic for chromosome 21 with 81·7 per cent of scored nuclei exhibiting three signals; and one abnormal case involving an unbalanced chromosome 21·21 translocation was falsely scored as normal due to poor hybridization/detection efficiency. The method has been substantially improved and simplified so that it is suitable for the rapid detection of trisomy 21. As aneuploidy detection in interphase does not identify structural chromosome aberrations, it is not a substitute for fetal chromosome analysis.     

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。