阿尔茨海默病PS-1基因突变的研究

采用聚合酶链反应及基因测序技术探讨阿尔茨海默病（Alzheimer病，AD）早老素-1（Presenilin-1，PS-1）基因第3、4、5、8外显子的突变特点，对13例散发性Alzheimer病（sporadic Alzheimer＇s disease，SAD）患者、12例血管性痴呆（vascular demendia，VD）患者及31名正常老年人的PS-1基因第3、4、5、8外显子片段进行扩增与序列分析．编号为SAD5的患者PS-1基因第3外显子扩增片段上存在1个缺失突变位点，编号为SAD3的患者PS-1基因第8外显子扩增片段的近3’端处发现2个插入突变位点．12例VD患者与31名正常老年人的PS-1基因第3、4、5、8外显子均未发现突变．实验结果表明，SAD患者PS-1基因中存在第3、第8外显子的突变．     

miRNA与肿瘤发生

肿瘤发生的机制是细胞出现失控性增殖。肿瘤的发生一直被广泛认为是由于一系列癌基因蛋白和抑癌基因蛋白的开放读码框的突变而逐步形成的。随着非编码RNA（ncRNA）的发现，传统观念正被改变。最近的研究表明非编码RNA中的成员miRNA可能对于肿瘤的形成起着重要的调控作用。 miRNA（microRNA）是一类高度保守的非编码RNA（ncRNA），长度一般为19—25nt的单链型RNA（ssRNAs），由60．110nt的可形成发夹状的内源性转录前体加工而成。miRNA与靶mRNA的3’UTR碱基配对，通过抑制mRNA的翻译或直接使mRNA降解，在转录后水平使基因产生沉默。越来越多的证据显示由miRNA调节的基因调控机制作为基因表达水平调控的一种重要方式，与肿瘤的发生密切相关。     

把基因分析引进人类学——人类学学者访谈录之三十九

结合自身的研究,探讨了遗传学在人类学的应用及前景问题,如体质人类学、医学人类学、分子人类学、考古人类学等分支领域。     

Mapping of the rice （Oryza sativa L.） thermo-sensitive genic male sterile gene tms5 with EST and SSR markers

VELOPING“TWO-LINE”HYBRID RICE.THE POLLEN FERTILITY OF TGMS IS REGULATED BY THE TEMPERATURE OF ENVIRONMENT.THE POLLENS OF TGMS LINES ARE STERILE WHEN THE ENVI-RONMENT TEMPERATURE IS ABOVE A CRITICAL POINT,BUT FERTILE BELOW THIS POINT.SO FAR,A NUMBER OF T…     

Strategy for the mapping of interactive genes using bulked segregant analysis method and Mapmaker/Exp software

A qualitative trait is usually controlled by a single gene, but it may be sometimes controlled by two or even more genes. This phenomenon is called gene interaction. Rapidly searching for linked mo- lecular markers via bulked segregant analysis (BSA) and then constructing regional linkage map with Mapmaker/Exp has become a common approach to mapping single major genes. However, methods and computer programs developed for mapping single major genes cannot be simply applied to interactive genes because the genetic patterns of gene interac- tions are quite different from that of single-gene in- heritance. Up to now, experimental methods for quickly screening molecular markers linked to inter- active genes and statistical methods and corre- sponding computer softwares for simultaneously analyzing the linkage relationships of multiple mo- lecular markers to an interactive gene have not been available. To solve this problem, in this paper, we propose a strategy for mapping interactive genes using BSA and Mapmaker/Exp. We demonstrate that all interactive genes can be mapped by the 'BSA Mapmaker/Exp' strategy using F2 generation (in a few cases, F3 generation is also needed). As BSA and Mapmaker/Exp have been broadly used in gene mapping studies and are well known by many re- searchers, the strategies proposed in this paper will be useful for practical researches.     

Genetic analysis and molecular mapping of a presenescing leaf gene psll in rice （Oryza sativa L.）

A rice psl1 （presenescing leaf） mutant was obtained from a japonica variety Zhonghua 11 via radiation of ^60Co-γ in M2 generation. Every leaf of the mutant began to wither after it reached the biggest length, while the leaves of the wild variety could keep green for 25--35 d. In this study, genetic analysis and gene mapping were carried out for the mutant identified. The SSR marker analysis showed that the mutant was controlled by a single recessive gene （psl1） located on chromosome 2. Fine mapping of the psl1 locus was conducted with 34 new STS markers developed around psl1 anchored region based on the sequence diversity between Nipponbare and 93-11. The psl1 was further mapped between two STS markers, STS2-19 and STS2-26, with genetic distances of 0.43 and 0.11 cM, respectively, while cosegregated with STS2-25. A BAC contig was found to span the psl1 locus, the region being delimited to 48 kb. This result was very useful for cloning of the psl1 gene.     

幼虫的起源

长期以来，幼虫和成虫是由同一基因物种进化而来这一假设与许多生物学现象有着难以调和的矛盾。本书的作者提出了一个大胆的猜想——决定幼虫形态的相关基因可能是由不同种类动物交互移植而来，并通过举例论证了这一幼虫基因移植论的可行性。     

压电生物传感器的研究进展

压电生物传感器是一种将高灵敏的压电传感器与特异的生物反应结合在一起的新型生物分析方法,这一方法不需要任何标记,且仪器构造简单、操作方便,引起人们的兴趣,并已成为当前生物传感器领域中的一个研究热点。本文就压电生物传感器在气体、微生物、病毒、蛋白质及基因检测等方面的研究应用作一评述。     

利用病例-父母设计的候选疾病易感基因的LOD值排除分析

已有的一种LOD值排除方法,可在随机群体样本中反过来检测引起复杂疾病和数量特征的候选基因的重要性.LOD值排除方法是常规关联分析的有效补充.虽然与传统的关联分析相比,方法更加保守,但是仍然受到群体分层的影响.为了控制群体异质性所带来的混杂影响,文中通过病例-父母设计,发展了一种LOD值排除分析方法.这种方法与连锁分析中的排除分析是相似的.观测到的核心家系数据的似然函数可以构建多项分布式:L=n!/Ⅱi,j nij! Ⅱi,j(pij)nij.其中nij是父母配对类型为i而受累子代的基因型为j的家庭个数,pij为有一个受累子代的核心家庭中父母配对类型是i而受累子代的基因型为j的核心家庭的条件概率.这个似然值是基因频率和被检测遗传标记的相对风险的函数.在这种方法中,能够分析候选基因的特定遗传效应和遗传模型.如果LOD值≤-2.0,检测位点没有含有比特定位点更大的效应而被排除.我们进行了模拟研究来检测排除分析中遗传效应和遗传模型的功效.模拟表明,这种方法有一定的合理功效来排除一个具很小遗传效应的候选基因.与核心家系中传递不平衡检验(TDT)关联分析相似的是,该排除分析一般不受群体混层的影响.排除分析可以作为排除不含有或者含很小遗传效应的候选基因的TDT分析方法的补充.这种方法已经被用来检测维生素D受体对骨质疏松症的重要性.