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The genetic load for hereditary hearing impairment in Chinese population and its clinical implication

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Journal of Otology 2009年第2期4卷 98-105页

作者： WANG Qiu-ju 1,2, RAO Shao-qi 1, 3, GUO Yu-fen 4, LI Qing-zhong 5, ZHAO Hui 1, ZHAO Li-dong 1, YUAN Hu 1, ZONG Liang 1, LIU Qiong 1, ZHAO Ya-li 6, WANG Da-yong 1, HAN Ming-kun 1, JI Yu-bin 1, LI Jian-qiang 1, LAN Lan 1, YANG Wei-yan 1, SHEN Yan 2,6, HAN Dong-yi 1 1 department of Otorhinolaryngology-Head and Neck Surgery, and Institute of Otolaryngology, Chinese People’s Liberation Army General Hospital, beijing, 100853 china 2 Chinese National Human Genome Center, beijing, 100176 china 3 department of Medical statistics and Epidemiology, School of Public Health, Sun Yat-Sen university, Guangzhou, 510080, china 4 department of Otorhinolaryngology, Head and Neck Surgery, Second Hospital of Lanzhou university, Lanzhou 730030, china 5 department of Otolaryngology, EYE & ENT hospital of Fudan university, Shanghai, 200031,china 6 Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and peking Union Medical College, beijing, 100005 china department of Otorhinolaryngology–Head and Neck Surgery and Institute of Otolaryngology Chinese People’s Liberation Army General Hospital Beijing 100853 China Chinese National Human Genome Center Beijing 100176 China department of Medical statistics and Epidemiology School of Public Health Sun Yat–Sen University Guangzhou 510080 China department of Otorhinolaryngology Head and Neck Surgery Second Hospital of Lanzhou UniversityLanzhou 730030 China department of Otolaryngology EYE & ENT hospital of Fudan University Shanghai 200031China Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100005 China

Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 Chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the Chinese population has a genetic load on hereditary hearing loss. Establishing personalize

关键词： Hereditary hea ring loss linkage analysis DFNY1 AUNX1 auditory neuropathy enlarged vestibular aqueduct senserineural hearing loss genetic epidemiology

Population pharmacokinetic/pharmacodynamic modeling of valproate in Chinese children with epilepsy

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Population pharmacokinetic/pharmacodynamic modeling of valpr...

中国药理学会临床药理学专业委员会会议暨第十次全国临床药理学学术会议

作者： JIANG De-chun~(1,2) WANG Li~2 WANG Yu-qin~1 LU Wei~(3,4) BAI Xiang-rong~1 1 department of Pharmacy,Xuan-wu Hospital,Capital Medical university,beijing 100083,Chinta 2 department of Pediatrics,First Hospital,peking university,beijing 100083,china 3 department of Pharmaceuties,School of Pharmaceutical Science,peking university,beijing 100083,china 4 State Key Lab.of Natural and Biomimetic Drugs,beijing 100083,china

AIM:To establish a population pharmacokinetic/pharma- codynamic(PK/PD)model for valproate(VPA)in chil- dren with epilepsy in china,and promote reasonable use of antiepileptie drug in clinical practice. METHODS:Sparse data of VPA serum concentrations from 417 pediatric children were *** patients were divided into three groups:Population PK-Index group,n=317;Population PK-Valid group,n=100;115 of the total 417 subjects were also included in the Population PD *** PK parameters of VPA were estimated based on the data from population PK-Index *** the validation procedure,the serum concentra- tions of VPA from the population PK-Valid group were pre- dicted by base and final models *** assess the accuracy and precision of the predictions,mean prediction error(MPE),mean square(t prediction error(MSPE), root mean squared prediction error(RMSPE),weight-resi- dues(WRES)and its 95% confidence intervals(95%CI) were all calculated,then compared between the two mode- *** population PD group,’all of the 115 patients were VPA *** of epilepsy treatment was di- vided into 5 grades according to the percentage of seizure frequency decreased(PSFD%).The value of PSFD% 100%,75%-100%,50%-75%,25%-50%,or less than 25 % are corresponding to grade 1 to *** pop- ulation PD group,the quantitative relationship between the VPA serum concentrations and the probability for its effica- cy score was characterized by logistic regression. RESULTS:Population PK of VPA was described by one- compartment model with first order *** the final model,K,V/F,CL/F are0.251+2.24·(1-HS)(/ h),2.88+0.157·WT(L),0.106+0.0157· AGE(L/h),*** final model was validated internally and *** regression showed that VPA serum concentrations and corresponding peak proba- bility for its efficacy were(25μg/mL,grade 5,50%), (32 μg/mL,grade 4,32.3%),(50 μg/mL,grade 3, 26.3%),(67 μg/mL,grade 2,36.5%),and(78 μg,/mL,grade 1,50% ),respecti

关键词： population pharmacokinetics/pharmacodynamics valproate epileptic children Bayesian approach NONMEM individualized dosage regimen

Behavior and Attributions in Conflicting Events Between Couples in Intimate Relationships

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Behavior and Attributions in Conflicting Events Between Coup...

北京论坛（2004）文明的和谐与共同繁荣

作者： Su Yanjie department of Psychology, peking university

Psychologists pay much more attention on the research on the quality of intimate relationship. Since late twentieth century, it is witnessed an increasing interest in the research on behavior and attributions between couples in intimate relationships. We try to investigate behavior and attributions in conflicting events between couples in intimate relationship. In order to examine whether or not there are discrepancies on behavior and attributions in conflicting events on different stages and between different gender in intimate relationships, 84 dating couples and 80 married couples were asked to report their relationship quality, behavior response and attributions for their conflicting events. There are ten conflicting events representing four dimensions respectively: power/control, investment, boundaries, instrumental behavior. MANOVA and X2 statistics were used. Difference on behavior or attributions between different stages and between gender are discussed. In the same time, different stages, gender discrepancy, correlations between satisfaction and attributions, between satisfaction and behavior are discussed as well. The conclusion of the research shows that: More avoidant behavior in treating parents conflicting event is found between dating couples than that between married couples. More positive behavior in entertainment, consumption, time of spending together, economy control conflicting events are shown by different gender in intimate relationship. More positive behavior are shown between satisfied couples and more negative behavior are shown by unsatisfied couples in dating couple in career selection conflicting event, in married couples in time of spending together, children conflicting events. More benign causal attribution in career decisions, treating friends, children, time of spending together conflicting events are found between dating couples than married couples. More malign causal attribution on investment effect dimension in children conflict

关键词： Intimate relationship Conflict Behavior Attribution

天津市平原土壤微量元素含量的空间自相关研究

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土壤学报 1995年第1期32卷 50-57页

作者：张朝生陶澍袁贵平刘水北京大学城市与环境学系中国科学院地理研究所化学地理室

空间自相关是区域化变量的基本属性之一，而空间自相关统计可用于检测研究区域内变量的分布是否具有空间结构。本研究以天津市平原区土壤微量元素为例，采用Ｍｏｒａｎ’ｓＩ统计量，研究了土壤微量元素含量的空间自相关关系、空间自相... 详细信息

空间自相关是区域化变量的基本属性之一，而空间自相关统计可用于检测研究区域内变量的分布是否具有空间结构。本研究以天津市平原区土壤微量元素为例，采用Ｍｏｒａｎ’ｓＩ统计量，研究了土壤微量元素含量的空间自相关关系、空间自相关的方向性、空间自相关与距离的关系以及不同方向的自相关与距离的关系。结果证实在本研究的采样密度下（平均约３００平方公里一点），天津市平原区多数土壤微量元素含量表现出显著的正空间自相关；土壤微量元素含量的空间自相关关系在受表生与人为作用影响较大的Ａ层最为强烈；人为活动改变了部分微量元素含量（汞、镉、铅、锌、砷）在研究区土壤中，尤其是表土中原有的空间分布结构特征。

关键词：微量元素空间自相关方向性空间相关图土壤

Molecular analysis of early rice stamen development using organ-specific gene expression profiling

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Molecular analysis of early rice stamen development using or...

中国遗传学会植物遗传和基因组学专业委员会2007年学术研讨会

作者： Lu Xiao-Chun~1 Gong Hua-Qin~1 Huang Mo-Li~1 Bai Su-Lan~1 He Yang-Bo~1 Mao Xi-Zeng~1 Geng Zhi~1 Li Song-Gang~1 Wei Li-Ping~1 Yuwen Jie-Shuai~1 Xu Zhi-Hong~1 Bai Shu-Nong~2 1.PKU-Yale Joint Research Center of Agricultural and Plant Molecular Biology,National Key Laboratory of Protein Engineering and Plant Gene Engineering,College of Life Sciences,beijing 100871,china 2.department of probability and statistics,School of Mathematical Sciences,peking university,~#National Plant Gene Research Center (beijing),beijing,100871,china

Elucidating the regulatory mechanisms of plant organ formation is an important component of plant developmental biology and will be useful for crop improvement *** organ formation,or organogenesis,occurs when a group ...

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The Influence of the Buffles on Core-annular Structure in High Density Circulating Fluidized Bed

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The Influence of the Buffles on Core-annular Structure in Hi...

Third Joint china/USA Chemical Engineering Conference

作者： Guangsheng Gu Xiaofeng Xie Yuliang Guo Fei Wei and Yong Jin department of Chemical Engineering Tsinghua university beijing 100084 P. R. china 17-202 Tsinghua university peking P.R.C. 100084

＜正＞To minimize core-annular structure, a new design is proposed in a cold model of 10m in high, 0.186m in diameter circulating fluidized bed （CFB）. The internal buffles, which are different from ring type circumferential buffles, are added into the CFB. The solid voidage is measured by dual optical density probe at about 1780Hz. The probability Density Distribution （PDD） of the local solid fraction shows that there is a very strong turbulence in whole bed, the micro- structure of cluster and void is destroyed by strong cyclones. The solid fraction in the core area is much higher than in empty bed. It can explain that the baffles enhance radial mixing of gases and solids, improve gas-solid contacting, and reduce back mixing of both gas and particles.

关键词： High Density Circulating Fluidized Bed (HDCFB) buffle probability Density Distribution (PDD) solid fraction back mixing

Measurement Uncertainty with the Gray Theory

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Measurement Uncertainty with the Gray Theory

第二届国际测量仪器与测试自动化学术会议

作者： Yang Jian~(1,2)Lv Naiguang~(1,2)Dong Mingli~2 (1 department of Electronic Engineering,beijing university of Posts and Telecommunications,beijing 100081,china ) (2 department of Electronic Information Engineering,beijing Institute of Machinery,beijing 100192,china)

＜正＞It is very important how to evaluate the computer vision measurement *** current evaluating method is based on *** statistical method is based on probability and statistics *** distribution is required, For the computer vision measurement,there are so many factors influencing the ***,small sample size, non-normal distributions and non-repeated measurement can not be applied to statistical *** evaluation of measurement uncertainty is required by most *** paper proposes a new algorithm that using curvature to calculate *** method improves the gray theory and overcome some shortcomings.

关键词： computer vision evaluating uncertainty gray theory curvature error

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审计独立性设计的经济学分析

天津商学院学报 2003年第6期23卷 20-23页

作者：牛建军郜扬北京大学光华管理学院北京100871 天津商学院会计系天津300134

从概率论的角度对审计独立性给出解释,并且分单向独立和双向独立两种情况对审计独立性进行了分析,提出了一个描述审计独立性的标准q。对影响审计独立性的因素从经济学的角度进行了剖析,在假定成本不变的条件下,得出了审计独立性与被审... 详细信息

从概率论的角度对审计独立性给出解释,并且分单向独立和双向独立两种情况对审计独立性进行了分析,提出了一个描述审计独立性的标准q。对影响审计独立性的因素从经济学的角度进行了剖析,在假定成本不变的条件下,得出了审计独立性与被审单位的规模成反比;假定收入不变的条件下,得出了审计独立性与会计师事务所注册资本金成正比,同样条件下合伙制事务所比有限责任公司制事务所独立性强的结论。

关键词：独立性审计经济学分析 logistic曲线双向独立假定成本假定收入

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对高中数学课程内容改革的思考

学科教育 2002年第6期 6-8,25页

作者：刘晓玫首都师范大学数学系北京100037

数学课程内容的改革是课程改革的核心 ,推陈出新 ,以现代数学的内容代替原有的内容是课程改革的需要。对于微积分、矩阵、概率统计等现代数学的内容如何纳入到中学课程中将对课程改革产生较大影响。

关键词：数学课程课程改革矩阵课程内容数学教学中学教育