73例中国人血友病甲基因突变的分析

我们用Southern blotting、PCR、变性梯度凝胶电泳(DGGE)和DNA测序等方法对73例血友病甲患者(经上海瑞金医院测定血浆FVⅢ:C和vWF:Ag诊断,其中无亲缘关系患者65例,按FVⅢ:C水平分为轻、中、重三型。FVⅢ:C< 2%为重型,共47例;FVⅢ:C 2%-5%为中型,共9例;FVⅢ:C5%-25%为轻型,共1 7例)进行FVⅢ基因突变检测。共检出内含子22倒位23例,均为重型,约占重型的49%,与国外报道相似。余下50例(其中无亲缘关系者45)用PCR-DGG E分析所有外显子及其侧翼内含子序列,发现异常条带则进行DNA测序。在17例患者中检出突变13种,其中无义突变5种,均为重型;错义突变6种,除1例外都是轻中型;小缺失2例,都是重型;其中,AA466Lys(AAG)-Thr(ACG)、719Tyr(TAC)-Stop(TAG)、AA826 Asp(GAC)-Glu(GAA)、312Ile(ATC)-xxC及AA1551-1552del(AGAA)为新发现的突变。有亲缘关系的患者都有相同的基因突变,而在无亲缘关系患者未发现相同突变。基因突变与临床表现基本相符。 Abstract:We use Southern blotting,PCR,denaturing gradient gel electrophoresis(DGGE)and DNA sequencing to detect gene mutations of haemophilia A in Chinese population.73 cases(47 severe)(FVIII:C<2%),9 moderate(FVIII:C 2%~5%),17 mild(FVIII:C 5%~25%)of haemophilia A were first screened with Southern blotting,23 were found to be the intron 22 inversion type,all being severe cases.The remaining 50 cases without intron 22 in version were examined with PCR-DGGE.Genomic DNA were amplified using GC-clamped primers covering all the exons and all flanking intron regions.Abnormal bands were sequenced.13 different mutations were identified,including 5 nonsense mutations,6 missense mutations and 2 small deletions.5 mutations,AA466Lys(AAG)-Thr(ACG),AA719Tyr(TAC)-Stop(TAG),AA826Asp(GAC)-Glu(GAA),AA312Ile(ATC)-xxC and AA1551-1552del(AGAA)have not been reported before.Generally the genetic defects correspond to the clinical conditions.     

Remote sensing and geographic information systems in the spatial temporal dynamics modeling of infectious diseases

Similar to species immigration or exotic species invasion,infectious disease transmis-sion is strengthened due to the globalization of human activities. Using schistosomiasis as an exam-ple,we propose a conceptual model simulating the spatio-temporal dynamics of infectious diseases. We base the model on the knowledge of the interrelationship among the source,media,and the hosts of the disease. With the endemics data of schistosomiasis in Xichang,China,we demonstrate that the conceptual model is feasible; we introduce how remote sensing and geographic information systems techniques can be used in support of spatio-temporal modeling; we compare the different effects caused to the entire population when selecting different groups of people for schistosomiasis control. Our work illustrates the importance of such a modeling tool in supporting spatial decisions. Our mod-eling method can be directly applied to such infectious diseases as the plague,lyme disease,and hemorrhagic fever with renal syndrome. The application of remote sensing and geographic informa-tion systems can shed light on the modeling of other infectious disease and invasive species studies.     

PLZF-RARα融合基因的生物学功能研究

构建了8个PLZF-RARα融合基因突变体.用“滞后”胶实验证实PLZF-RARα与PML-RARα一样,亦能以同二聚体的形式结合到维甲酸反应元件(RARE)上,且PLZF的POZ结构域介导PLZF-RARα同二聚体的形成和稳定.但两者与RARE的结合类型存在差异,在DR5G,PML-RARα的结合强度大于PLZF-RARα;而在DR5T,则是PLZF-RARα强于PML-RARα.进一步工作证实PLZF-RARα能与RXR形成异二聚体,并产生4种复合物.用免疫沉淀法发现PLZF-RARα亦能与PLZF形成异二聚体,而且也是通过POZ结构域介导PLZF-RARα和PLZF异二聚体的形成.同PML-RARα一样,PLZF-RARα对RARE的结合反应亦受维甲酸调控.     

分子方法在我国有尾类系统与进化研究中的应用

从系统发育、物种分类与界定和遗传多样性等方面,介绍了分子方法在我国有尾类系统与进化研究中的应用现状和最新进展.分析讨论了我国有尾类系统与进化研究中存在的问题,展望了该领域今后的研究趋势和发展前景.     

Ecotoxicity of soils contaminated with industrial and domestic wastewater in western Shenyang, China

Soil samples were collected from 7 sites in the up-, mid- and down-reach along and nearby the wastewater irrigation channel, western Shenyang of China. The concentrations of selected pollutants (mineral oil, PAHs - polycycle aromatic hydrocarbons and Cd) were determined by UV spectrometer, HPLC and AAS (atomic adsorption spectrometer) spectrometer, respectively. Toxicity effects of soils were evaluated by seedling emergence test with root length of wheat as the end-point and by earthworms test with the mortality rate and inhibition rates of body weight as endpoints. Results showed accumulation of pollutants for most soils with concentration of 200.2 mg·kg-1-1600 mg·kg-1 for mineral oil, 0.33 mg·kg-1-1.81 mg·kg-1 for Cd and 900.16 mg·kg-1 -2737.91 mg·kg-1 for PAHs. The inhibition rates of root elongation were from -20% up to 40 %, and mortality rates of earthworms ranged from 0%-40% from the exposure period of two weeks to eight weeks by sampling interval of two weeks, the inhibition rates of earthw     

From brain function to therapy

<正>During the 20th century,biological sciences developed enormously and uncovered many mysteries of life.With one exception,we have now understood very well the various systems of our body,such as the digestive,circulatory and reproductive systems.This one exception is the nervous system,mainly the brain.The scientific study of the nervous     

DNA指纹图带与鸡的蛋重性状的遗传相关分析

用蛋重大的和蛋重小的北京白鸡做亲本交配获得F1代个体,再用F1代个体交配得125只F2代个体。以人源小卫星DNA33.6做探针以上述125只鸡进行D NA指纹分析,发现其中有两条指纹图带与蛋重性状有关,经简单线型相关分析表明,这两条图带(D6.2和D6.3)的出现频率与蛋重的相关系数分别为-0.80和-0.81。 Abstract:Beijing White Chickens laying larger eggs and those laying smaller eggs were used as parental individuals for mating to produce the F1 progeny and then the F1 progeny individuals were mated to produce 125 individuals of the F2 progeny.Two bands associated with the egg weight trait were identified by DNA fingerprints of the 125 individuals generated with human minisatellite probe 33.6. The simple linear correlation analysis showed that the coefficients of correlation between frequencies of the two bands(D6.2 and D6.3)and egg weights are –0.8 and –0.81.     

FⅧ的结构与血友病甲

凝血因子Ⅷ(FactorⅧ,F_Ⅷ)先天性缺陷而引起血友病甲,是临床上常见的一种遗传性出血性疾病.F_Ⅷ基因位于X染色体上,全长186kb,包括26个外显子及25个内含子.F_Ⅷ是一个分子量很大的糖蛋白(分子量为320kD),由具有相同N末端氨基酸顺序且分子量为90—200kD之间不同大小的一条重链和一条分子量为80kD的轻链组成,二链之间通过金属离子连结。在血浆中F_Ⅷ与血管性假血友病因子(von Willebrand factor