Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for fetal-sample collection and therefore, involves a risk of fetal loss. Circulating fetal DNA in the maternal bloodstream is being used to perform non-invasive prenatal diagnosis (NIPD). NIPD is a challenging discipline because of the biological features of the maternal blood sample. Maternal blood is an unequal mixture of small (and fragmented) amounts of fetal DNA within a wide background of maternal DNA. For this reason, initial NIPD studies have been based on the analysis of specific paternally inherited fetal tracts not present in the maternal genome so as to ensure their fetal origin. Following this strategy, different NIPD studies have been carried out, such as fetal-sex assessment for pregnancies at risk of X-linked disorders, RhD determination, and analysis of single-gene disorders with a paternal origin. The study of the paternal mutation can be used for fetal diagnosis of dominant disorders or to more accurately assess the risk of an affected child in case of recessive diseases. Huntington's disease, cystic fibrosis, or achondroplasia are some examples of diseases studied using NIPD. New technologies are opening NIPD to the analysis of maternally inherited fetal tracts. NIPD of trisomy 21 is the latest study derived from the use of next-generation sequencing (NGS).     

Comparison of four DNA barcodes in identifying certain medicinal plants of Lamiaceae

Many species in the family Lamiaceae have been widely used for the treatment of coronary heart disease,stroke,and other conditions,and authenticating each of these species has become an important topic...     

A quantitative ultramorphological approach for systematic assessment of sperm head regions: an example in rams

Examination of the type and frequency of damage to the head of spermatozoa using electron microscopy can be used to evaluate the quality of differently treated sperm. This report describes a systematic approach based on 29 morphological categories of sperm heads assessed from discrete regions in raw, chilled and frozen-thawed spermatozoa. Injury occurred principally at the plasma membrane and could be present or absent in all regions. In the anterior segment, when the plasma membrane is present, it can be intact, dilated, very dilated, disrupted, or contain vesicles characteristic of acrosomal reaction-like capacitation changes. When the plasma membrane is absent, the acrosome may be intact, exhibit a complete loss of contents, or retain some contents of the apical ridge and present a very dilated outer acrosomal membrane. The plasma membrane in the equatorial segment and the boundary between regions can be intact, dilated, very dilated or disrupted. The post-acrosomal plasma membrane is classified as intact, dilated or very dilated, whereas the dense lamina is intact, dilated or fragmented. The morphology of the heads most frequently observed in chilled spermatozoa consists of anterior and equatorial segments with a dilated, or dilated and disrupted plasma membrane; a boundary between regions with an intact and dilated plasma membrane; and a post-acrosomal region with an intact plasma membrane and dense lamina, both dilated. In frozen-thawed spermatozoa, the morphology of the heads is more frequently characterised by no plasma membrane and an acrosome showing complete or some loss of contents in the apical ridge and very dilated outer acrosomal membrane, presenting mostly dilated and fragmented dense lamina in the post-acrosomal region. These findings are consistent with the conclusion that the freezing process produces an increase in the degree of damage to the cells when they are subjected to increasing degrees of cold shock. There are still difficulties in developing a good diluent and process for preserving the plasma membrane in ram spermatozoa. This systematisation, using different categories, allows characterisation of multiple transmission electron microscopy images. Thus, the different changes observed due to cryopreservation may be correlated.     

GLTSCR2 contributes to the death resistance and invasiveness of hypoxia-selected cancer cells

Tumor hypoxia may be an indicator of poor survival in cancer patients. Thus, an understanding of the molecular mechanism responsible for hypoxic tumor selection is essential to gain further insight into tumor biology. Our aim in this study was to investigate whether hypoxia-responsive GLTSCR2 contributes to death resistance and increased invasiveness of hypoxia-selected glioblastoma cells. We found that repeated hypoxia downregulates p53-upstream regulator, GLTSCR2, which resulted in increased death resistance and invasive potential of glioblastoma cells. Restoration of GLTSCR2 expression suppressed the malignant potential of hypoxia-selected cells. Our results indicate that GLTSCR2 participates in hypoxia-induced malignant potential.     

我国中亚热带典型红壤丘陵区季节性干旱

以湖南省桃源县 (总土地面积 4 4 5 8.4 km2 )为代表 ,采集该县 196 0～ 2 0 0 1年的气象资料 ,结合有关科研成果 ,深入研究我国典型红壤丘陵区季节性干旱的成因、发生规律及其合理调蓄利用水资源的依据 ,提出了抗御该区季节性干旱的指导思想与基本对策。研究结果表明 ,7月～翌年 2月份是该区季节性干旱的易发期 ,年发生概率在 85 %以上 ,中等和中等以上干旱的年发生概率在 5 0 %左右 ,7～ 8月份和 11～ 12月份为年内的两个高发期 ,且发生概率和危害程度均是 2 0世纪 90年代 >80年代 >70年代 >6 0年代 ,但只要高标准、规范化地采取水土保持措施 ,恢复植被覆盖 ,完善现有水利设施 ,充分发挥“土壤水库”、“生物水库”和现有工程水库的蓄水抗旱潜力 ,以集水区或小流域为基本地理单元再适当兴建小型水利工程 ,确保占土地总面积 10 %左右的塘堰等蓄水面积 ,将 70 %～ 80 %的自然降水通过陆面拦截 (含蒸散 )方式截留并蓄存下来 ,使排出集水区或小流域的水量控制在年降水量的 10 %～ 2 0 % ,并积极推广应用农业节水技术 ,红壤丘陵区的季节性干旱问题就可以基本解决     

影响祁连山区域地貌-水文系统各地理要素的主成分分析

祁连山区域地貌复杂,从而引起水文系统以及生态系统的复杂性。水文系统是引起生态系统复杂的重要原因之一。对影响祁连山区域地貌——水文系统的9个重要地理要素：即流域盆地的总高度、流域的海拔高度、流域周长、河道总长度、河道总数、平均分叉率、河谷最大坡度(度)、河源数以及流域面积进行了综合分析,将其归为3类,即流域盆地的规模,流域侵蚀状况和流域河系形态。在此基础上,认为若要在以后对影响祁连山区域地貌——水文系统地理要素进行分析时,可以直接选取流域面积,流域盆地出口的海拔高度和河道分叉率作为3类地理要素的代表,进行区域地貌——水文系统分析,从而能够降低分析问题的疑难程度与复杂性。     

传染性法氏囊病病毒野毒株的致病性及其vp2基因比较

对4个IBDV野毒株的致病性和它们的vp2基因高变区序列同时做了比较分析。结果表明,4个IBDV毒株在致病性程度上存在较大差异。其中有一个是真正的超强毒,即GX8／99,其他几个虽然达不到真正超强毒的毒力,但也比经典的标准毒的致死性高得多。在vp2基因高变区,这4个IBDV野毒株与超强毒参考株HK46同源性很高,在DNA水平为96．8％～99．5％,在氨基酸(aa)水平为96．6％～100％o而与疫苗毒D78有很大差异,分别只有91．7％～93．6％和91．8％～93．2％。说明IBDV毒株的vp2基因高变区确实与其致病性有一定关系。特别是SD-1／97、SD-3／98、JS-30／99株之间及其与HK46在DNA和aa水平的同源性高达98．4％和98．6％以上,SD-3／99、JS-30／99株之间及其与HK46的氨基酸同源性为100％。然而,致病性特别高的GX8／99株病毒与其他3个野毒株及HK46在DNA和氨基酸水平的同源性相对较低,在DNA和aa水平的同源性只有96．8％～9712％和96．6％～97．9％。相对于国内的流行毒株和香港超强毒参考株HK46,GX8／99株在致病性和VP2高变区都已发生了一定的变异。     

犬冠状病毒S蛋白主要抗原区基因片断的表达及免疫原性

应用Pichia pastoris酵母表达了犬冠状病毒大熊猫野毒株(CCV DXMV)S蛋白主要抗原区基因片断。用特异性引物扩增出CCV DXMV株S1基因片断,并将其克隆到pGEM-T载体中得到pTS1。用KpnI和Notl双酶切pTS1回收目的基因S1定向克隆到pPICZCαA中,构建出重组质粒pPICZCαAS1。将pPICZCαASl用SacI内切酶线性化后,电转化感受态GS115酵母细胞,用PCR法筛选阳性重组子。用1％的甲醇诱导重组酵母菌,取培养物上清进行重组蛋白的检测。结果重组酵母菌培养物上清用SDS-PAGE电泳可检测到相对分子量为106kDa大小的重组蛋白,Westem-blot证实该重组蛋白可以与CCV多克隆抗体发生特异性血清学反应。凝胶薄层扫描分析表明,3株重组酵母菌在1％甲醇诱导144h后,重组蛋白S1表达量约占培养物上清总蛋白量的6．6-8．6％左右。用重组蛋白S1免疫BALB／C小鼠3次后,小鼠血清CCV中和抗体可达1：8-1：16,表明重组S1蛋白具有一定的免疫原性。