Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes. The absence of any clinical symptoms in the mother despite a clear MTHFR deficiency and hyperhomocystinemia emphasizes the heterogeneity of this disease.     

Glial and neuronal cells in amniotic fluid of anencephalic pregnancies

Cultured amniotic fluid cells from four anencephalic pregnancies were characterized in indirect immunofluorescence (IIF) microscopy using specific antibodies against different types of cytoskeletal intermediate filaments. Most of the cells showed a fine fibrillar cytoplasmic fluorescence with antibodies against glial fibrillary acidic protein (GFA), indicating that amniotic fluid cells in anencephalic pregnancies are of glial origin. The GFA-positive cells were rapidly adhering and proliferating. They remained as the major cell type also in long term cultures, and could easily be recovered from liquid nitrogen without losing their GFA positivity. GFA-positive cells were pleomorphic in appearance, and occurred in several morphologically different shapes. Amniotic fluid from one of the anencephalic cases contained typical neuronal cells, which in IIF were GFA-negative but could specifically be stained with anti-neurofilament antibodies. Most of the GFA-negative cells in all the cases were fibroblasts, identified by their fluorescence only with antibodies against vimentin. Epithelial cells showing positive keratin-fluorescence in IIF, were seen only occasionally.     

Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β-glucuronidase deficiency)

We had the opportunity of investigating a case (BK) of a severe form of mucopolysacchari- dosis with nearly total deficiency of β-glucuronidase in serum, leucocytes and fibroblasts. We here report results obtained by prenatal diagnosis of a clinically normal child (BK's sister), and point out the difficulty in interpreting a heterozygous level of β-glucuronidase activity in cultured amniotic cells. Four successive passages of amniotic cells were tested for β-glucuronidase and α-mannosidase activity in at-risk and control cells. In different passages, enzyme activity was between 8 and 49 per cent of controls but 2 to 18 times higher than fibroblasts from the affected brother (BK). The highest activity was observed in the first passage and the lowest in the third. The electrophoretic separation of GAGS from at-risk amniotic fluid showed a normal pattern. We discuss the correlation between enzyme levels in different passages of cultured cells and that found in leucocytes and fibroblasts from the propositus and parents. From a practical point of view, we conclude that the first passage gives the most reliable results for prenatal diagnosis.     

BOD生物传感器在海洋监测中的应用

选用一株耐高渗透压的酵母菌作为敏感材料可以实现BOD的快速测定。采用聚乙烯醇包埋方法对酵母菌进行包埋 ,可在 15min内完成一个海水BOD标准样品测量 ,测定结果具有很好的线性关系。并研究了对高分子有机物的响应、使用时间及保存方式     

固定化微生物脱氮

应用固定化微生物技术开展单级生物脱氮的研究。结果表明，固定化硝化与反硝化混合污泥可以实现单级生物脱氮，效果好于未固定化污泥，氨氧化速率和总无机氮的脱中分别提高到未固定化污泥的１．７倍和１３．４倍。结果还表明光硬化树脂也是一种较好的固定化介质。     

利用百合(Lilium davidii)根尖细胞的微核细胞率作为环境监测指标的探讨

首次报道了利用百合根尖细胞微核细胞率作为环境监测指标的可行性和优越性。实验证明,百合根尖比蚕豆根尖细胞的微核细胞率更敏感。     

固定化细胞技术在重金属废水处理中的应用研究进展

作为生物吸附技术的一种,固定化细胞技术用于重金属废水处理虽然时间不长,但已表现出良好的应用前景.通过分析固定化细胞技术的概念、固定化方法、可利用生物种类、吸附机理及其在生产实践中的应用情况,探讨了该技术目前存在的问题及研究方向.     

利用复合酵母菌系统处理含油污泥

利用筛选得到的10株酵母菌组成复合酵母菌系统，并将该复合菌系统接种到泥浆反应器中对模拟油泥样品进行了处理。在对反应器进行优化的基础上，比较了复合酵母菌体系和经驯化的活性污泥体系对模拟风化油泥的处理效果，发现复合酵母菌在反应速度和油去除率上都优于活性污泥。利用GC—MS对复合酵母菌处理体亲中主要脂肪烃组分的变化进行了分析，结果表明原油组分中脂肪烃部分在处理8d后基本被完全降解。     

一种新去整合素Adinbitor的表达、序列分析及其对C6神经胶质瘤细胞凋亡的诱导

Adinbitor为一通过基因工程方法获得的来自于中国白眉蝮蛇毒腺的去整合素家族的新成员 .从蝮蛇毒腺中提取总RNA进行RT -PCR扩增 ,获得了 2 19bp的白眉蝮蛇去整合素基因 .cDNA测序及由此推导的氨基酸序列结果显示 ,Adinbitor为含有 73个氨基酸的多肽 ,其中包括 12个半胱氨酸 ,并具有去整合素的特征模序 -RGD .对此去整合素基因进行克隆、转化与诱导后 ,得到了该蛋白的可溶性高效表达 .经组氨酸亲和层析纯化 ,获得了分子量Mr为 9×10 3 的均质融合蛋白 ,并将其命名为adinbitor.序列分析表明 ,adinbitor与已发表于GENBANK上的整合素序列有很高的同源性 ,其中同源性最高的是南韩的saxatilin ,二者的蛋白质同源性高达 91.78% .活性测定结果表明 ,Adinbitor能有效地诱导神经胶质瘤细胞C6的细胞凋亡 ,有希望成为一种抗癌新药 .图 5参 15