Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

中国东北区域本底大气中酸性气体的研究

龙凤山是我国区域本底站之一,NO_X和SO₂浓度远低于我国空气质量Ⅰ级标准。从1994年8月15日到1995年7月31日首次在龙凤山（127°36′E,44°44′N,330.5m）测得空气中NO_X和SO₂。观测到很强的季节变化,其夏季值最低,冬季值最高。NO_S和SO₂浓度和气象要素密切相关,例如风速、温度和相对湿度。基于排放源以及风频的不均一,不同扇区来的空气质量能有很大变化。在SSE－SW扇区出现高浓度SO₂、较高浓度NO_X和高〔SO₂〕/〔NO_X〕,表明该扇区有城市污染物的输送。SW－NNE扇区有高NO_X、低SO₂及低的〔SO₂/〔NO_X〕,表明该方向城市烟羽难以直接影响测点,在这个扇区高NOX来源于当地农民做饭、取暖时秸杆焚烧。低NO_X、SO₂观测在NNE－SSE扇区,这意味着这是最清洁扇区。     

热带海洋大气环境下X70管线钢的缝隙腐蚀行为研究

目的研究X70管线钢在热带海洋大气实海环境下的缝隙腐蚀行为。方法在距离湛江东海岛海岸50m和200 m处分别搭建楔型缝隙模型,安装大气环境Cl-收集装置和自动气象监测站。结果距离海岸越近,风速越大,大气中Cl-沉降速率也越大,X70管线钢缝隙腐蚀越严重。X70管线钢在距离海岸50 m处发生缝隙腐蚀的最大缝宽约为0.96 mm,200 m处最大缝宽约为3.75 mm,50 m处缝隙腐蚀更严重。结论缝隙腐蚀区域形成了氧浓差电池,同时随着缝隙液中Cl-向缝隙内迁移,发生闭塞区电池自催化过程,在二者共同作用下,缝隙腐蚀区域较非缝隙腐蚀区域腐蚀更严重。     

A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

微生物絮凝剂ZS-7的纯化及其结构特征研究

采用透析、乙醇沉淀、凝胶过滤层析对微生物絮凝剂ZS-7进行了纯化.经鉴定纯化后的微生物絮凝剂ZS-7是一种新型的糖蛋白,其产量大约为0.98 g/L发酵液.ZS-7主要由多糖和蛋白质组成,含量分别为91.5%和8.4%.进一步的分析表明ZS-7中含有酸性多糖包括糖醛酸(16.4%)、丙酮酸(7.1%)和乙酸(0.5%).采用凝胶色谱法测得ZS-7的相对分子质量为6.89×104.红外光谱、X射线能谱图和核磁共振图谱说明糖蛋白絮凝剂ZS-7含有羟基、氨基、羧基、甲氧基和磺酸等功能性基团.单糖组成分析说明ZS-7主要由鼠李糖、甘露糖、葡萄糖和半乳糖组成,各单糖的摩尔比大致为:半乳糖∶葡萄糖∶甘露糖∶鼠李糖=142∶2.2∶4.5∶3.4.     

膨润土对复合污染中表面活性剂的吸附及机理

选取阳离子表面活性剂氯化十六烷基吡啶(CPC)、阴离子表面活性剂十二烷基苯磺酸钠(SDBS)及非离子表面活性剂Triton X-100(TX-100)为代表,研究了其在膨润土上的吸附行为,探讨了膨润土阳离子交换容量(CEC)、温度、盐度对CPC吸附的影响.结果表明,Na基膨润土对CPC的吸附性能最好,对SDBS基本无吸附,对TX-100的吸附介于两者之间.Na基膨润土对CPC的吸附是阳离子交换和疏水键缔合共同作用的结果,对TX-100的吸附主要是通过其与膨润土硅氧表面间的氢键作用,同时通过疏水键作用形成吸附双分子层;SDBS在Ca基膨润土上的吸附损失量先增大后减小,在1.5倍临界胶束浓度 (CMC)时达到极大值,主要机理是SDBS与膨润土中的Ca²⁺产生沉淀作用,而胶束具有再溶解沉淀的作用.膨润土对CPC的吸附量随着温度升高而降低,随着CEC的增大而增大,一定浓度NaCl的加入有利于其在膨润土上的吸附.     

沸石和活性炭处理氨氮废水的实验研究

文章选用具有较强选择性和吸附性的13X沸石和活性炭作为吸附材料,以人工配置的含氨氮废水模拟实际废水,分别以溶液pH值、吸附时间、初始浓度和投加顺序等作为影响因素,通过实验来系统地考察所选材料对废水中氨氮的去除技术参数。结果表明:所选材料具有较好、较稳定的吸收效果,在其他条件一定的情况下,13X沸石在pH值为中性,吸附时间为40 min时对氨氮的去除率最大,达87.9%。且在相同实验条件下,先投放活性炭再投放沸石去除氨氮的效果较好,比先投放沸石然后投放活性炭的效果高出25%左右。     

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.