Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

具有LXRα活性效应物质的新型筛查方法研究

为了检测环境中潜在的LXRα效应物质.本研究以LXRα蛋白为例,利用核受体蛋白与小分子亲和结合的原理,构建了pCold-TF-LXRα重组蛋白并优化了重组蛋白的表达条件,建立了特异性捕获活性物质的方法.结果表明：诱导温度为20℃、诱导剂IPTG浓度为0.4mmol/L为重组蛋白的最佳表达条件;同时,利用LXRα激动剂T0901317 4个梯度浓度（0.25,2.5,25,250μg/L）的加标回收率实验测得线性回归曲线为y =0.83604x+0.40763,R²=0.9948,证明方法具有有效性;对比pCold-TF空载体蛋白（6.42%）和重组蛋白（79.83%）对T0901317（250 μg/L）的回收率,说明方法具有特异性.为了验证方法的实用性,将重组蛋白与15种典型的有机磷酸酯类化合物（OPEs）的混合标样进行“捕获”实验,证明了TPHP、BPADP、TCrP、EHDPP、TNBP、RDP、TEHP、TDCIPP具有LXRα的活性效应.最后,用酵母双杂交实验验证了这8种OPEs均为LXRα的拮抗剂.     

工业纤维废渣利用的生物技术研究

用平板分离法从树皮中选育出“５０８８号菌种”，使麻纺厂的废弃下脚料转化成可替代饲料中玉米成份的“媲谷菌饲”。并利用造纸厂白泥，粘胶纤维厂废水处理产生的污泥作饲料钙，锌元素添加剂获成功。     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

铬革渣资源化处理研究 Ⅱ.由铬革渣提取蛋白质和铬(Ⅲ)

铬革渣是制革工业废弃物,经碱水解脱铬提取蛋白质.蛋白质与作为载体的糠麸混合,烃干燥后粉碎,制成饲料蛋白粉.剩余的碱性滤渣用硫酸提取硫酸铬,该盐可作为铬鞣剂,提铬后的酸性滤渣可用作花肥.     

二价铜离子对川蔓藻(Ruppia maritima)的毒害作用研究

采用室内培养试验方法,研究了水体中二价铜离子(Cu2 )对耐盐沉水植物川蔓藻的毒害作用.试验针对叶绿素、可溶性蛋白和POD活性3项指标进行分析.结果表明,川蔓藻对低浓度铜离子的胁迫会产生一定的适应性,在Cu2 ≤1 mg·L-1的情况下对川蔓藻生长不会造成明显影响.Cu2 达到或超过5 mg·L-1就会使川蔓藻植株的生理生化指标出现明显变化,生长也会受到抑制.在试验条件下,铜离子浓度越高,植株受到的伤害越严重.     

混合培养微生物好氧降解对硝基苯胺的特性研究

通过富集培养 ,获得了降解对硝基苯胺的混合培养微生物。结果表明 ,对硝基苯胺降解速度和混合培养微生物生长对外加碳源有较强的依赖性。在培养液中添加 1 0g L葡萄糖和 1 0g L酵母粉 ,36h内对硝基苯胺去除率可达97%以上 ,对硝基苯胺降解速率可达 4 1mg L·h ;当对硝基苯胺作为培养液生长的唯一碳源、氮源和能源时 ,96h内对硝基苯胺去除率为 34 8% ,降解速率为 0 15mg L·h。