Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.     

An unusual tricentric X chromosome detected prenatally

We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long arm, and deletion of the distal long arm of the X. C-banding showed the presence of one active and two inactive centromeres and X-inactivation studies demonstrated the tricentric chromosome to be late replicating in all cells examined. The origin of this complex de novo rearrangement appears to have involved two separate breakage events, the first leading to the production of a dicentric X chromosome and the second generating the tricentric X.     

工业锅炉的NOx污染及防治

文章论述了工业锅炉排放的NOx有害气体的污染危害，并详列了污染防治控制措施。     

Levels of toxic metal in Achatina achatina from parts of Akwa Ibom State, Nigeria

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A novel kinetic procedure for the determination of iron in environmental samples

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Prenatal detection of 45,X/46,XX/47,XXX mosaicism through amniocentesis: Mosaicism confirmed in cord blood,amnion, and chorion

Sex chromosome mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis. Chromosome analysis of 56 primary clones of amniocytes revealed three distinct cell lines. Nine cells (16.1 per cent) demonstrated a 45,X karyotype, 11 cells (19.6 per cent) a 47,XXX karyotype, and the remaining 36 cells (64.3 per cent) had a modal number of 46 chromosomes (46,XX). Cytogenetic evaluation of 100 cells from cord blood, amnion, and chorion following delivery confirmed this triple mosaicism. However, the distribution of the three karyotypes in the pre- and postnatal samples was not found in the same proportions. The cord blood had the most similar frequency to that of the amniotic fluid sample, while the chorion had a significantly increased frequency of 47,XXX cells (41 per cent) and a decreased frequency of 45,X cells (2 per cent). Physical examination of the infant at birth revealed no discernible phenotypic abnormalities. Parental karyotypes were normal. This case highlights the difficulty in determining whether a prenatally detected abnormality will be associated with postnatal phenotypic deviation.     

Loss of ozone on sulfate and sulfide doped-ice surfaces

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Column experiments to study nonlinear removal of bacteriophages by passage through saturated dune sand

In a recent field study on dune recharge, bacteriophages MS2 and PRD1 were found to be removed 3 log10 over the first 2.4 m and only 5 log10 over the next 27 m. To understand the causes of this nonlinear removal, column experiments were carried out under conditions similar to the field: same recharge water, temperature (5 +/- 3 degrees C) and pore water velocity (1.5 m day(-1)). Soil samples were taken along a streamline between the recharge canal and the first monitoring well. Bacteriophage phiX174 was included for comparison. The high initial removal in the field was found not to be due to heterogeneity of phage suspensions but to soil heterogeneity. Phage removal rates correlated strongly positively with soil organic carbon content, and relatively strongly positively with silt content and the presence of ferric oxyhydroxides. Soil organic carbon content, silt content and the presence of ferric oxyhydroxides were found to decrease exponentially with travel distance. Removal rates of phiX174 were found to be 3-10 times higher than those of MS2 and PRD1 due to the lower electrostatic repulsion that the less negatively charged phiX174 experiences. It is suggested that the high initial removal in the field is due to the presence of favorable sites for attachment formed by ferric oxyhydroxides that decrease exponentially with travel distance. Similar removal rates may be found at both laboratory and field scale. However, due to local variations at field scale detailed knowledge on soil heterogeneity may be needed to enable a reliable prediction of removal.     

瞬时表达比较马铃薯X病毒CP基因3种结构对RNA沉默的诱导效果

RNA沉默是植物抵御病毒侵染的一种防卫机制,病原来源的抗性(pathogen-derived resistance,PDR)被认为是通过RNA沉默起作用的.转化的核酸片段在基因组中的位置、长短和不同排列结构等均影响RNA沉默的效率.用全长马铃薯X病毒(PVX)CP基因构建非翻译的正义、反义和反向重复结构转基因的植物表达载体,通过农杆菌渗入法瞬时表达测试了这些转基因对RNA介导抗性的诱导效率和有效性.结果表明,反向重复的PVXCP是更为有效的RNA沉默诱导因子,同时也证明让目的基因在受试植物中瞬时表达,在转化植物之前能比较快速地检测转基因的表达情况以及表达产物的功能,从而节约时间和资源,并减少盲目性.图3表2参21     

长江口海域悬浮物的粒度特征与成因分析

利用现场激光粒度仪(LISST-100X C型),在不扰动天然细颗粒泥沙絮凝体的情况下,于2008年7月在长江口海域测量了24个站位不同层次悬浮絮凝体的粒径分布和体积浓度.结合同步测得的海水温度、盐度和浊度数据,得出了长江口海域悬浮物的粒度特征并进行了成因分析.长江口观测海域悬浮物的平均中值粒径为4.69φ,粒级分布具有分选较差、峰态宽、近对称的特征.悬浮絮凝体的垂向平均体积含量随离岸距离的增加而显著降低,而中值粒径却具有增大的趋势;在31.0°N断面,平均中值粒径从11μm增加到了60μm.随着离岸距离的增加,细颗粒悬浮泥沙的含量显著降低,而一些粒径较大的生物体或大粒径絮凝体的含量相对增多,造成了中值粒径的明显增大.本次观测所得的有效密度在246~1 334 kg/m3之间,平均为613kg/m3.当悬浮物含量较高时,由于大絮凝体比小絮凝体的沉降速度快,大絮凝体有效密度小于小絮凝体,从而导致悬浮物的中值粒径随水深的增大而明显增大,絮凝体有效密度随水深的增加而减小;37和44站有效密度与中值粒径的相关系数均在0.9以上.