The complete mitochondrial genomes sequences of Asio flammeus and Asio otus and comparative analysis

Mitochondrial DNA (mtDNA), as a model sys-tem, has been extensively used for molecular phy-logenetic and evolutionary analysis[1]. With the ad-vances in DNA sequencing technology, more andmore researchers prefer to use complete mitochondrialgenome for phylogenetic analysis[2—4]. Since the com-plete sequencing of human mtDNA in 1981 (Andersonet al., 1981)[5], 342 vertebrate mitochondrial genomeshave so far been sequenced. Up to now the completesequences of 29 avian mitochondrial genomes h…     

Fanconi anemia: contribution of molecular analyses to the identification of bone marrow graft donors and the study of chimerism in grafted patients

We report on the effectiveness of molecular studies regarding Fanconi anemia (FA) for a better selection of bone marrow graft donors and for post-transplant follow up. Ten unrelated FA patients and their families were analyzed by microsatellite markers. In 9 cases, the cytogenetic investigation of potential human leukocyte antigen (HLA)-identical related donors was normal, and the molecular analyses confirmed that they were also either normal or heterozygous carriers. For 1 patient, cytogenetic analysis of an HLA-identical sibling donor yielded ambiguous results with a relatively high number of chromosomal breakages using cross-linking agents. However, genotyping of this potential donor demonstrated his heterozygous state. Nine patients have received allogeneic bone marrow transplantation from HLA-matched related donors. Microsatellite analysis showed complete chimerism (CC) in all cases. The median follow up was 54 months (range 8-144 months). One patient out of 9 with CC rejected her graft without prior detection of a transitional mixed chimerism. Among these patients, 1 died 25 months after the transplantation of a chronic graft-versus-host-disease (GVHD). We conclude that, when the cytogenetic studies are not conclusive, molecular analyses are crucial to distinguish heterozygous carriers from asymptomatic FA Tunisian patients. Molecular analyses also allowed the evaluation of hematopoietic chimerism after allogeneic bone marrow transplantation and might be of value to identify patients with a high risk for graft rejection.     

道路边坡绿化防护工程中的生态学原理

随着我国公路和铁路建设的快速发展,公路护坡及山体边坡的绿化工程也日益受到人们的重视并付诸实施。然而,出于急功近利的目的,一些工程并没有按照科学的规律开展工作,结果导致了最终的失败。本文从生态学的观点出发,提出在路坡边坡绿化工程中应遵循的一些生态学原理,如适应性原理、生物多样性原理、生态位原理、生物共生原理、限制因子原理和力能学原理,试图为有关从业人员提供有益的帮助。     

长江春大豆核心种质构建及分析

利用长江春大豆初选核心种质SSR(simple sequence repeat）标记和农艺性状表型等基础数据,对用不同个体取样方法以及不同数据类型建立的核心种质进行评价,目的是确定中国大豆（Glycine max）核心种质的最佳取样策略提供依据,结果表明,根据SSR分子数据聚类,采用类内随机取样,类内以遗传相似性系数取样以及仅依据遗传相似性系数取样都可用于大豆核心种质构建,但是综合不同评价参数发现,以类内随机取样最佳,类内按遗传相似性系数取样次之,单独以遗传相似性系数取样较差。分析不同SSR等位变异保留比例的遗传多样性指数发现,当保留90%和80%的SSR等位变异时,核心种质具有更高的遗传多样性,由于与SSR分子数据种质遗传关系评价的不一致性,农艺性状等基础数据虽然可用来构建核心种质,但其SSR分子水平代表性相对较低,本研究结果还表明,用不同方法或同一方法不同重复次数取样建立的核心种质具有异质性,且这种异质性随核心种质取样比例的降低而增大,因此,虽然可依据不同数据类型确定相应的方法建立核心种质,但综合表型和分子数据建立的核心种质更具有代表性。     

云南狭顶叶蝉属二新种（同翅目：叶蝉科：横脊叶蝉亚科）

本文记述狭顶叶蝉属Ａｎｇｕｓｔｅｌｌａ２新种,即：白斑狭顶叶蝉Ａ．ａｌｂｏｎｏｔａｔａ．ｓｐ．ｎｏｖ,黑背狭顶叶蝉Ａ．ｎｉｇｒｉｎｏｔａｓｐ．ｎｏｖ,模式标本保存在中国科学院动物研究所。     

XeCl准分子激光辐照对溶菌酶结构的影响

利用荧光光谱、SDS-PAGE和NMR方法,考察308 nm XeCl准分子激光辐照对溶菌酶结构与活性的影响。使用能量密度为0.3 mJ/mm2的激光辐照溶菌酶,脉冲数分别为25、50、100、200、600、1200、1800、3600和7200。结果表明,用低强度激光辐照(低于200个脉冲)时,溶菌酶的活性出现增高趋势。随着激光辐照脉冲数的进一步增大,溶菌酶的活性又开始逐步降低。激光辐照处理后,溶菌酶的荧光强度发生了与生物活性相对应的先增高再降低现象,说明溶菌酶的高级结构发生了显著变化。SDS-PAGE结果显示,经激光辐照后,溶菌酶出现了分子间的聚合。分析溶菌酶的1H-NMR谱发现,辐照后,溶菌酶色氨酸(Trp)111、Trp63和Trp62的化学位移发生了变化,此结果进一步说明,激光辐照使溶菌酶的高级结构发生了变化。该实验可为激光辐照诱导蛋白质去折叠的研究提供参考。     

高罗王冠虫（Coronocephalus gaoluoensis Wu, 1979）的再研究

标本采自湖南省永顺县万民乡志留系下部Llandovery统Telychian阶秀山组上部,几乎全部为Coronocephalus gaoluoensis Wu,其中有20多块头、胸、尾相连的完整标本。研究发现,Coronocephalus gaoluoensis Wu具有十分特殊的头部构造,其面线前支横切头鞍前叶中前部...     

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In order to investigate this possibility, we sequenced 197 genes encoding glutamate receptors and a large subset of their known interacting proteins in 95 sporadic cases of NSID. We found 11 DNMs, including ten potentially deleterious mutations (three nonsense, two splicing, one frameshift, four missense) and one neutral mutation (silent) in eight different genes. Calculation of point-substitution DNM rates per functional and neutral site showed significant excess of functional DNMs compared to neutral ones. De novo truncating and/or splicing mutations in SYNGAP1, STXBP1, and SHANK3 were found in six patients and are likely to be pathogenic. De novo missense mutations were found in KIF1A, GRIN1, CACNG2, and EPB41L1. Functional studies showed that all these missense mutations affect protein function in cell culture systems, suggesting that they may be pathogenic. Sequencing these four genes in 50 additional sporadic cases of NSID identified a second DNM in GRIN1 (c.1679_1681dup/p.Ser560dup). This mutation also affects protein function, consistent with structural predictions. None of these mutations or any other DNMs were identified in these genes in 285 healthy controls. This study highlights the importance of the glutamate receptor complexes in NSID and further supports the role of DNMs in this disorder.     

长江三角洲地区全新世蕨类孢子与藻类——以奉贤DY03钻孔的产出类型为例

长江三角洲奉贤DY03钻孔的全新统沉积物中蕨类孢子和藻类的种类丰富,如何正确鉴别,并解释它们的来源、传播与沉积过程等问题,成为讨论过去生物多样性变化、古生态环境与气候事件的重要基础.本文收录奉贤DY03钻孔沉积物中出现频率较高的蕨类孢子和藻类,蕨类孢子可能鉴定到种或属的水平,但也有部分种类只能鉴定到科的水平,有的类型难...