Molecular genetic evidence for heterogeneity in manic depression

Manic depression is a severe cyclic mental illness that can be unipolar or bipolar and has a lifetime risk of approximately 7 per 1,000 in most populations. Families with multiple cases of manic depression have been described that are compatible with both autosomal dominant and X-linked modes of genetic transmission. Psychoactive antidepressant and stimulant drugs that help to ameliorate depression and mania are thought to act by affecting catecholamine neurotransmitter systems such as adrenaline, noradrenaline and dopamine, amongst others. Mutations affecting the tyrosine hydroxylase (TH) gene, which encodes the rate-limiting enzyme for the synthesis of these three neurotransmitters, might therefore be responsible for causing the manic depressive phenotype. We have studied three Icelandic kindreds amongst whom it appears that a single autosomal dominant disease allele is segregating. In these families there were 44 cases amongst 73 individuals at risk. Genetic linkage studies were carried out using clones encoding tyrosine hydroxylase the variable portion of the Harvey-ras-1 (HRAS1) locus and the variable region of the insulin gene (INS). All three markers are closely linked on chromosome 11 and were used to observe the segregation of restriction fragment length polymorphisms (RFLPs) in the three affected kindreds. We found no evidence for linkage to these markers in any of the three families. In contrast, Gerhard et al. found linkage between manic depression and HRAS1 in a single large Amish kindred. We conclude that there is genetic heterogeneity of linkage in manic depression. Therefore mutations at different loci are responsible for the manic depressive phenotype in the Amish and in Iceland.     

Geophysical evidence for reduced melt production on the Arctic ultraslow Gakkel mid-ocean ridge

Most models of melt generation beneath mid-ocean ridges predict significant reduction of melt production at ultraslow spreading rates (full spreading rates &<20 mm x yr(-1)) and consequently they predict thinned oceanic crust. The 1,800-km-long Arctic Gakkel mid-ocean ridge is an ideal location to test such models, as it is by far the slowest portion of the global mid-ocean-ridge spreading system, with a full spreading rate ranging from 6 to 13 mm x yr(-1) (refs 4, 5). Furthermore, in contrast to some other ridge systems, the spreading direction on the Gakkel ridge is not oblique and the rift valley is not offset by major transform faults. Here we present seismic evidence for the presence of exceptionally thin crust along the Gakkel ridge rift valley with crustal thicknesses varying between 1.9 and 3.3 km (compared to the more usual value of 7 km found on medium- to fast-spreading mid-ocean ridges). Almost 8,300 km of closely spaced aeromagnetic profiles across the rift valley show the presence of discrete volcanic centres along the ridge, which we interpret as evidence for strongly focused, three-dimensional magma supply. The traces of these eruptive centres can be followed to crustal ages of approximately 25 Myr off-axis, implying that these magma production and transport systems have been stable over this timescale.     

一株具抗肿瘤活性的北极细菌的筛选及分子鉴定

在中国首次北极科学考察期间，从北极海域采集了水体，沉积物等样品，从中分离得到一批嗜冷细菌，采用MTT法对这些北极海洋细菌进行了细胞毒活性物质的筛选，得到一株具有细胞毒活性的菌株。采用16SrDNA序列分析及系统发育分析方法对该株菌株进行了分子鉴定。     

混合变量遗传算法在预应力网架结构中的应用

针对预应力网架结构设计变量的特点,提出了采用混合变量编码、基于遗传算法的优化设计方法.该方法将杆件截面对应的离散变量和预应力对应的连续变量置于同一水平变量空间,个体编码中同时体现两种变量的遗传基因,避免了割裂设计空间、分级优化而带来的误差影响.为改进标准遗传算法易于发生早熟现象、局部寻优能力差等缺点,优化方法采取了适应度变换、最优保留及自适应遗传等改进措施.算例分析表明,该优化方法合理有效,优化结果满足设计要求,符合工程实践.     

Phylogenetic and genetic evidence for base-triples in the catalytic domain of group I introns

Understanding the mechanisms by which ribozymes catalyse chemical reactions requires a detailed knowledge of their structure. The secondary structure of the group I introns has been confirmed by comparison of over 70 published sequences, by chemical protection studies, and by genetic experiments involving compensatory mutations. Phylogenetic data can also be used to identify tertiary interactions in RNA molecules. This was first done by Levitt, who predicted tertiary interactions in transfer RNA, which were subsequently confirmed by X-ray crystallography. More recently, sequence comparison data have been used to predict tertiary interactions in ribosomal RNA. We have searched a complete alignment of the core regions of group I introns for evolutionary covariations that could not be ascribed to classical Watson-Crick or wobble base pairings. Here we describe two examples of phylogenetic covariation that are most simply explained by postulating hydrogen-bonded base-triples similar to those found in tRNA. Genetic experiments with the Tetrahymena and sunY introns confirm the importance of these interactions for the structure of the ribozyme.     

搅拌机搅拌臂数目与叶片面积的确定方法

针对国内外搅拌臂和叶片缺乏成熟的设计方法的现状,采用理论分析与试验研究相结合的方法,分析了设计搅拌臂数目和叶片面积时需要考虑的相关因素,并在此基础上设计了试验样机,通过试验测试和结果分析,确定了各种试验条件下的搅拌臂数目与叶片面积的较佳值.结果表明,由于搅拌臂数目和叶片面积与其他结构参数互相影响,在叶片搅动的物料量与搅拌室公称容积之间存在着一个合理的比值范围,应将该比值作为设计时的综合评判指标.     

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

Hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC2.4.2.8), which functions in the metabolic salvage of purines, is encoded by an X-linked gene in man. Partial HPRT deficiencies are associated with gouty arthritis, while absence of activity results in Lesch-Nyhan syndrome (L-N). L-N patients fail to reproduce and the heterozygous state appears to confer no selective advantage. Thus, Haldane's principle predicts that new mutations at the hprt locus must occur frequently in order for L-N syndrome to be maintained in the population. This constant introduction of new mutations would be expected to result in a heterogeneous collection of genetic lesions, some of which may be novel. As we report here, the mutations in the hprt gene of seven L-N patients, selected from an initial survey of 28 patients, have been characterized and all were found to be distinctly different, as predicted. The origin of one unusual mutation has been identified by analysis of DNA from four generations of family members. Further molecular analysis of the origin of new mutations at the hprt locus should aid in resolving the issue of an apparent difference in the frequency of hprt mutations in males and females.     

一种由种群发育约束个体变异的鲁棒遗传算法

提出用种群发育停滞代数对变异概率和变异位数进行动态控制的改进遗传算法。该算法把种群没有更优个体产生看作种群发育停滞 ,将种群发育停滞代数定义为当前繁殖代序号与已得最优解的繁殖代序号之差 ;变异参数 (包括变异概率、变异位数 )初值与标准遗传算法 (SGA)相近 ;随着发育停滞代数的增长 ,增大变异参数 ;当有更优个体产生时 ,变异参数恢复到初值 ,种群发育停滞代数置 0 ;随种群发育停滞代数再次增长 ,变异参数再次增大 ,如此反复 ,直至算法结束。该算法在保持局部搜索能力的同时 ,提高了全局搜索能力及速度。用两个多极值函数(Camel函数、Shaffer’sF6函数 )对该算法进行测试 ,结果表明 ,与SGA及自适应遗传算法相比 ,该方法以相当强的鲁棒性收敛到全局最优解 ,且具有较高的收敛速度     

Molecular evidence regarding the origin of echolocation and flight in bats

Bats (order Chiroptera) are one of the few orders of mammals that echolocate and the only group with the capacity for powered flight. The order is subdivided into Microchiroptera and Megachiroptera, with an array of characteristics defining each group, including complex laryngeal echolocation systems in microbats and enhanced visual acuity in megabats. The respective monophylies of the two suborders have been tacitly assumed, although microbat monophyly is uncorroborated by molecular data. Here we present a phylogenetic analysis of bat relationships using DNA sequence data from four nuclear genes and three mitochondrial genes (total of 8,230 base pairs), indicating that microbat families in the superfamily Rhinolophoidea are more closely related to megabats than they are to other microbats. This implies that echolocation systems either evolved independently in rhinolophoids and other microbats or were lost in the evolution of megabats. Our data also reject flying lemur (order Dermoptera) as the bat sister group, indicating that presumed shared derived characters for flying lemurs and bats are convergent features that evolved in association with gliding and flight, respectively.     

一种由种群发育约束个体变异的鲁棒遗传算法

提出用种群发育停滞代数对变异概率和变异位数进行动态控制的改进遗传算法。该算法把种群没有更优个体产生看作种群发育停滞，将种群发育停滞代数定义为当前繁殖代序号与已得最优解的繁殖代序号之差；变异参数(包括变异概率、变异位数)初值与标准遗传算法(SGA)相近；随着发育停滞代数的增长，增大变异参数；当有更优个体产生时，变异参数恢复到初值，种群发育停滞代数置0；随种群发育停滞代数再次增长，变异参数再次增大，如此反复，直至算法结束。该算法在保持局部搜索能力的同时，提高了全局搜索能力及速度。用两个多极值函数(Camel函数、Shaffer’s F6函数)对该算法进行测试，结果表明，与SGA及自适应遗传算法相比，该方法以相当强的鲁棒性收敛到全局最优解，且具有较高的收敛速度。     

Molecular genetic basis of the histo-blood group ABO system

The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas O(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.     

Molecular basis and genetic improvement of economically important traits in aquaculture animals

Aquaculture has been believed to be a major Chinese contribution to the world. In recent 20 years, genome and other genetic technologies have promoted significant advances in basic studies on molecular basis and genetic improvement of aquaculture animals, and complete genomes of some main aquaculture animals have been sequenced or announced to be sequenced since the beginning of this century. Here, we review some significant breakthrough progress of aquaculture genetic improvement technologies including genome technologies, somatic cell nuclear transfer and stem cell technologies, outline the molecular basis of several economically important traits including reproduction, sex, growth, disease resistance, cold tolerance and hypoxia tolerance, and present a series of candidate trait-related genes. Finally, some application cases of genetic improvement are introduced in aquaculture animals, especially in China, and several development trends are highlighted in the near future.     

应用小种群远缘杂交提高遗传算法的效率

为提高遗传算法的效率,将作物育种学中远缘杂交策略应用于多种群遗传算法,采用规模较小的多个种群同时进行进化,选择和变异操作在各种群内部独立完成,杂交操作在种群间完成。小种群的采用可以大大提高进化求解的速度,种群间的远缘杂交能够克服由于种群规模小、种群多样性降低导致早熟收敛的弊端,保证算法以较快的速度收敛到全局最优解。研究结果表明:该算法具有高效性。     

Molecular and genetic damage in humans from environmental pollution in Poland.

Extreme environmental pollution such as that found in the highly industrialized Silesian region of Poland has been associated with increased risk of cancer and adverse reproductive outcomes. Among the most prevalent carcinogenic and mutagenic air pollutants in Silesia are the polycyclic aromatic hydrocarbons (PAH) which are largely produced by industrial and residential combustion of coal. Molecular epidemiology aims to prevent disease by using biological markers to identify risks well before clinical onset to allow effective intervention. Here, we use a battery of biological markers to measure molecular and genetic damage in peripheral blood samples from residents of Silesia and from persons living in a rural, less polluted area of Poland. The results show that their exposure to environmental pollution is associated with significant increases in carcinogen-DNA adducts (PAH-DNA and aromatic adducts), in sister chromatid exchange including high-frequency cells, and in chromosomal aberrations as well as a doubling in the frequency of ras oncogene overexpression. We found that aromatic adducts on DNA were significantly correlated with chromosomal mutation, providing us with a molecular link between environmental exposure and a genetic alteration relevant to cancer and reproductive risk.     

Geochronologic and petrochemical evidence for the genetic link between the Maomaogou nepheline syenites and the Emeishan large igneous province

The Maomaogou nepheline syenite is located at the inner zone of the Emeishan large igneous province and exhibits intrusive contact with the Emeishan basalts. SHRIMP U-Pb dating on zircons from this syenite yields an age of 261.6±4.4 Ma, in agreement with the age of the Panzhihua layered intrusion and the eruption age of the Emeishan basalts as constrained by stratigraphic data. Geochemical data fur-ther suggest that the Maomaogou syenite has a source analogue to the Emeishan basalt, and may have been formed by partial melting of gabbroic cumulates underplated in the lower crust. As s result, tem-poral and spatial relationships and petrogenetic constraints provide evidence for the genetic link be-tween basalts, mafic/ultramafic and intermediate/acidic intrusives in the Panxi area.     

双滚筒再生搅拌设备搅拌均匀性建模与仿真

为提高双滚筒再生搅拌设备的搅拌均匀性,对内筒转速、叶片安装角和搅拌臂相位角进行了设计,利用基于离散元方法(EDEM)的仿真软件建立了双滚筒再生搅拌设备模型,对搅拌过程进行了离散元仿真模拟.仿真结果表明:在设计范围内提高转速、减小叶片轴向安装角可以提高双滚筒再生搅拌设备的搅拌均匀性;在供料速率一定的情况下,搅拌臂相位角过大不利于混合料的搅拌;搅拌臂相位角对粗集料均匀性的影响程度非常显著,通过减小相位角可以快速降低其离散系数,提高搅拌均匀性.     

偏心圆筒混合机的运动及混合机理分析

针对偏心圆筒混合机,运用坐标变换方法分析了旋转圆筒在任意时刻的坐标方程,得到了左右端盖质心的运动轨迹.分析单个颗粒的圆周运动,得到了单个颗粒作部分圆周运动的临界角速度;分析颗粒群体的运动,得到了颗粒群体作完全圆周运动的临界角速度,结果表明该值与颗粒物料常数及充装系数相关.从圆周运动和轴向运动两个方面分析混合发生时颗粒物料运动的模式及加料方式对混合效果的影响.对该类型混合机的研制与应用有一定的指导意义.     

南极海冰导热系数优化辨识

根据我国第22次南极科学考察现场调查数据,建立了辨识海冰导热系数的参数辨识模型,依据海冰导热系数依赖于其温度盐度的变化关系,拟合得到了三种海冰导热系数依赖于温度盐度的函数关系.通过遗传算法对该优化辨识模型进行了数值求解,用辨识出的最优导热系数与目前通用的海冰导热系数经验公式分别对我国第21次南极科学考察观测温度数据进行数值模拟,模拟结果表明本文构造的辨识模型是正确有效的,辨识结果可供南极海冰数值模拟者参考.     

RuH2分子结构与分子光谱

使用钌原子相对论有效原子实势LanL2dz和密度泛函理论B3LYP方法对RuH2分子结构与分子光谱进行理论研究,结果表明RuH2分子基态为角形C2v结构,基态电子态为3A2,平衡几何为R Ru-H=0.157 4 nm,∠HRuH=74.73°,同时计算给出各种稳定结构的振动频率、红外强度、拉曼活性、退极化率和偶极矩.