Novel mutations in the human CYP21 gene

The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Maternal serum levels of dimeric inhibin A in pregnancies affected by trisomy 21 in the first trimester

Dimeric inhibin A was measured in maternal serum samples from 45 pregnancies affected by trisomy 21 and 493 samples from unaffected pregnancies at 10–14 weeks of gestation. Inhibin A levels in affected pregnancies were compared with levels of free β-hCG and PAPP-A in the same series. In the trisomy 21 group, the median multiple of the median (MoM) inhibin A was not significantly elevated (1.28 vs 1.00) with only 15.5% being above the 95th centile. In contrast, the median MoM free β-hCG was significantly increased (2.05 vs 1.00) with 36% above the 95th centile and PAPP-A was significantly reduced (0.49 vs 1.00) with 42% below the 5th centile. Inhibin A levels in the trisomy 21 group were significantly correlated with gestational age such that median levels rose from 1.04 at 11 weeks to 1.30 at 12 weeks and 1.67 at 13 weeks. These findings suggest that first trimester biochemical screening for trisomy 21, which is currently optimised using maternal serum free β-hCG and PAPP-A and fetal nuchal translucency, will not benefit from the inclusion of inhibin A. Copyright © 2001 John Wiley & Sons, Ltd.     

喀斯特高原区5种常见灌木叶片δ~(13)C值的季节变化及其对石漠化程度的响应

测定了贵州高原喀斯特石漠化小流域内5种灌木叶片δ13C值的季节变化,旨在探讨季节及石漠化等级对植物叶片δ13C值的影响。结果表明:不同季节间植物叶片δ13C值呈显著差异,生长初期(4月)叶片的δ13C值显著高于生长中后期(7月、9月及12月);5种灌木种种间差异显著,火棘的叶片δ13C值最负,荚蒾的叶片δ13C值最正,粉枝莓,鼠李和竹叶椒的叶片δ13C值居中;7月不同石漠化等级间植物叶片δ13C值存在显著差异,而在其余月份(即4月、9月及12月)不同石漠化等级间植物叶片δ13C值不存在显著差异,但基本呈现无、轻度石漠化植物叶片小于中度石漠化植物叶片δ13C值的格局;整个生长季中,叶片δ13C值与土壤含水量的相关关系研究表明大多数种在大多数时间随土壤水分的减少其δ13C值增高。     

预腐蚀典型铆接结构疲劳寿命特性研究

通过设计LY12-CZ材料的典型铆接结构试验件与模拟现役飞机的地面停放环境,完成加速试验环境谱下的预腐蚀试验与不同时间预腐蚀后试验件的等幅疲劳试验,最终获得预腐蚀典型铆接结构疲劳寿命特性与疲劳寿命的影响系数C（t）曲线。     

地球生态系统的碳补充机制

首次提出地球生态系统的C补充机制,并且用框图模型说明了补充机制在运行过程中的每个流程,阐明了无论Si的充足与缺乏,地球生态系统都要将C从大气中移动的海底,储藏起来,完成C的迁移过程.研究结果表明,人类排放CO2引起气温和水温上升,地球生态系统不惜损害陆地生态系统和海洋生态系统,也要启动C补充机制,完成C的迁移,导致气温和水温恢复到动态的平衡.启动C补充机制期间,在输送Si的过程中,地球生态系统给陆地带来三大类型灾害:沙漠化、洪涝和风暴潮;在阻断Si的过程中,地球生态系统给海洋带来一大类型灾害:赤潮.在这些过程中,人类引起大气C的增加与地球生态系统导致大气C的减少充分展现了人类与自然界的相互撞击,这会强烈地产生一系列自然灾害发生,如干旱、沙漠化、沙尘暴、暴雨、洪水、泥石流、山体滑坡、风暴潮和赤潮.人类尽可能减少这些撞击,为地球生态系统的可持续发展,也为人类生存创造良好的环境.     

高浓度氨氮消化污泥脱水液半短程硝化试验研究

采用A/O工艺考察了消化污泥脱水液半短程硝化及维持的影响因素和控制方法.结果表明,在温度9～20℃、平均DO浓度5.4 mg/L、SRT 30 d左右时,进水氨氮负荷（以N计,下同）0.64 kg/(m³·d)的条件下启动,经过29 d实现了短程硝化,此后的65 d内,动态控制反应器游离氨FA>4 mg/L时,70%亚硝氮累积率的短程硝化得以维持;在实现短程硝化的基础上,进而实现了半短程硝化,出水氨氮与亚硝氮浓度比维持在1∶1.32左右;当氨氮负荷降至0.19 kg/(m³·d)时(FA<1 mg/L),短程遭到破坏,在不同FA下取样做FISH分析,进一步证明了高FA是维持半短程硝化的主要因素;在进水中COD为282 mg/L, C/N仅为0.85的条件下,由于实现了短程硝化,系统TN去除量约为91 mg/L.结果分析表明,消化污泥脱水液在中低温、高DO浓度、长SRT下,通过动态控制氨氮负荷和pH值等运行参数,在系统中维持适宜的FA浓度(>4 mg/L),可以实现并维持半短程硝化,为后续的厌氧氨氧化提供进水或回流到污水厂主流区而节省反硝化碳源.     

低C/N比条件下高效生物脱氮策略分析

针对低C/N比污水传统生物脱氮碳源不足、脱氮效率不高,提出从充分利用碳源和减少生物脱氮碳源需求量两个方面,来实现高效生物脱氮.在充分利用碳源方面,介绍了好氧缺氧分段进水工艺、脉冲式SBR工艺等改进型生物脱氮工艺;在减少生物脱氮碳源需求量方面,介绍了短程硝化反硝化、厌氧氨氧化、完全自养脱氮等新型生物脱氮技术.并对这些技术和工艺的原理、优势、存在的问题以及应用情况进行了简要的分析.