鱼类线粒体DNA及其在分子群体遗传研究中的应用

鱼类是脊椎动物亚门中种属数量最多的类群,分布广泛,起源复杂,拥有丰富的遗传多样性.多种自然和人为因素对鱼类遗传资源存在不同程度的作用,对鱼类生存和进化有重要影响.采用分子手段探讨鱼类遗传资源现状,可为遗传育种、鱼类进化研究和遗传资源保护等提供一定科学依据.以鱼类线粒体DNA(mtDNA)为代表的分子标记技术已被用于研究鱼类群体遗传结构及其与影响因素间的关系.本文综述了鱼类mtDNA的结构特征及其在鱼类分子群体遗传研究中的应用,对了解和运用mtDNA等分子标记研究鱼类群体遗传具有一定参考价值.     

Applications of Molecular Markers in Fruit Crops for Breeding Programs—A Review

Selection and use of molecular markers for evaluation of DNA polymorphism in plants are couple of the most important approaches in the field of molecular genetics. The assessment of genetic diversity using morphological markers is not sufficient due to little differentiating traits among the species, genera or their individuals. Morphological markers are not only highly influenced by environmental factors but skilled assessment is also prerequisite to find the variations in plant genetic resources. Therefore, molecular markers are considered as efficient tools for detailed DNA based characterization of fruit crops. Molecular markers provide new directions to the efforts of plant breeders particularly in genetic variability, gene tags, gene localization, taxonomy, genetic diversity, phylogenetic analysis and also play an important role to decrease the time required for development of new and excellent cultivars. The success of molecular markers technology in genetic improvement programs depends on the close relationship among the plant breeders, biotechnologists, skilled manpower and good financial support. The present review describes application and success of molecular markers technology used for genetic improvement in different fruit crops.     

葫芦科瓜类作物分子标记辅助育种研究进展

综述了几种常用分子标记在葫芦科瓜类作物遗传图谱构建、重要性状基因定位、遗传多样性及亲缘关系分析、分子标记辅助选择及在葫芦科遗传育种中的应用,对目前葫芦科遗传育种中应用分子标记技术存在的问题和解决方案进行了探讨,并对葫芦科分子标记辅助育种的前景做了展望。     

Techniques and statistical data analysis in molecular population genetics

Following the development of PCR methods, molecular techniques have become widely used for detecting genetic variation in natural populations. Most nucleotide changes can be detected by these techniques. Many of these changes probably reflect silent substitutions that are likely to be selectively neutral, making them particularly suitable to population genetic studies. In this paper, we review the published literature on molecular population genetics, with respect to the genome assayed (nuclear, mitochondrial or chloroplast), the organisms studied, the molecular techniques used, and the biological problems addressed. Several molecular techniques are then compared using experimental results obtained from a population genetic study of the Mytilus complex in the North Atlantic and Mediterranean. Finally, the most appropriate theoretical tools to analyse molecular population genetic data are discussed.     

分子标记技术在苹果育种中的应用

DNA分子标记是现代分子生物学发展出来的一类重要的遗传标记,已广泛应用于遗传图谱的构建、种质资源的管理和鉴定、基因的定位与克隆等。综述了分子标记在苹果育种中的应用。     

几种基于PCR的分子标记在甘薯遗传多样性研究中的应用

遗传多样性是甘薯品种遗传改良的基础。由于分子标记具有数量极大、不受环境及基因表达与否的限制、多为共显性、不影响生物性状表现等优点,现已在甘薯遗传多样性研究中得到广泛应用。本文比较了RAPD、AFLP、SSR、ISSR和SRAP等几种基于PCR的分子标记方法,分别从遗传差异和亲缘聚类分析两方面,对它们在甘薯遗传多样性研究中的应用进行了综述。对比分析表明ISSR是一种共显性、成本较低、重复性好、多态性较高且非常有发展前途的分子标记,并已经被广泛应用到甘薯遗传多样性、物种亲缘关系、系统分类和辅助育种研究中。     

生物技术用于黄瓜遗传育种

“十五”期间,生物技术在黄瓜遗传育种上的应用更加广泛,分子标记辅助育种、单倍体育种以及黄瓜基因工程改良取得了重要进展。本文综述了黄瓜基因分子标记、遗传图谱构建、基因定位、基因克隆与表达、品种DNA指纹图谱分析、分子技术鉴定病害、单倍体和三倍体培养、遗传转化体系建立及基因工程改良方面的最新进展,并讨论了存在的问题和前景。     

Anthropological Genetics in the Genomic Era: A Look Back and Ahead

The use of genetic methods and data has a long history in anthropology. Following dramatic growth in anthropological genetic field studies in the 1960s and 1970s, the revolution in molecular genetic methods during the 1980s spurred another period of growth and expansion. The earlier emphasis on examination of the role of alternative evolutionary mechanisms in structuring allele frequency variation within and between populations is reflected today in a renewed focus on unraveling demographic history using highly informative molecular markers. The existence of large, publicly available molecular genetic databases, coupled with advances in analytical methods, makes it possible to tackle a wide variety of problems in human evolution not possible with classical markers and traditional analytical methods, These recent advances will help frame the nature of research in the discipline in the near term. [Keywords; human evolutionary genetics, phylogenetics, molecular markers, genetic variation, population structure]     

桑树二倍体及人工诱导的同源四倍体遗传差异的AFLP分析

利用AFLP(AmplifiedFragmentLengthPolymorphism)分子标记技术 ,即扩增片段长度多态性 ,从DNA分子水平探讨二倍体桑 (2n =2X =2 8)与经秋水仙素诱变得到的同源四倍体桑 (2n =4X =5 6 )在遗传结构上的差异。根据对供试材料DNA多态性及遗传距离分析 ,认为经秋水仙素诱变得到的同源 4X与 2X相比在DNA分子遗传结构上产生一定程度的改变 ,在种内变异水平上 ,2X与同源 4X桑间的遗传差异小于种间差异。     

Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.

The most recent discoveries in molecular genetics today are rapidly incorporated into clinical practice and have resulted in an unprecedented expansion of medical options. Despite this, the impact of molecular genetics on health care services has yet to be evaluated. In order to begin this assessment, clinical genetic workload was prospectively collected from cases where molecular genetic testing was considered. Participation involved all 16 urban and outreach genetic centers regionalized to service the entire population of 10 million within the Canadian province of Ontario. Molecular genetic testing has been clinically available for > 5 years, as part of a publicly supported genetic network in which there are no direct costs to residents. Cross-sectional data were collected on 1,101 clients from 544 families involving 1,742 clinical actions relating to diseases in which molecular (DNA) tests were considered. Median times per clinical genetic action were as follows: formal counseling (60 min), case review (15 min), phone call (10 min), letter (15 min), specimen arrangement (15 min), and interpretation of molecular test results (10 min). Times varied significantly with the inheritance pattern of the disease, topics involved, and location. For any given genetic case, multiple clinical actions resulted in substantial time spent by the genetic professional. Clerical and administrative times were not captured. Workload unit measurements similar to those currently employed in hospital laboratories may be helpful for predicting the clinical resources and personnel that will be required as the use of molecular genetics by other medical specialties increases.     

利用分子标记分析高粱的遗传多样性及其在种质创新中的应用

分子标记由于能够反映DNA水平上的遗传变异而成为研究遗传多样性的重要方法。本文综述了利用分子标记分析高粱遗传多样性的研究进展,并阐述了遗传多样性分析在种质创新中的应用方向,提出了利用分子标记分析高粱遗传多样性研究中尚需进一步加强的研究内容。     

Elements for a theory of molecular evolution

Biological evolution is known to be driven by the availability of genetic variants. Spontaneous genetic variation can be the result of a number of specific molecular mechanisms. These can be grouped into three qualitatively different natural strategies of generating genetic variations, namely local sequence changes, DNA rearrangement within the genome and horizontal gene transfer, which is referred to here as DNA acquisition. All of these strategies bring about alterations in the DNA sequences of the genome, thus corresponding to the molecular genetic definition of the term mutation. A detailed inspection of specific mechanisms of mutagenesis reveals on the one hand the impact of non-genetic internal and environmental factors, and on the other hand the specific involvement of gene products. The underlying so-called evolution genes can be classified into generators of genetic variations and into modulators of the frequency of genetic variation. These evolution genes are postulated to have themselves undergone biological evolution under the pressure of second-order selection. On the basis of a few selected examples of mutagenesis, elements for a theory of molecular evolution are collected without a claim for completeness. Philosophical dimensions as well as practical aspects of the advanced knowledge on specific molecular mechanisms involved in molecular evolution are also briefly discussed.     

分子遗传标记技术及其在昆虫科学中的应用

分子遗传标记是随着聚合酶链式反应 (PCR)和Southern杂交等分子生物学技术的飞速发展而出现的遗传学标记技术 ,它突破了以往形态标记 ,细胞学标记和同工酶标记等表达型标记的局限性 ,在揭示物种的遗传变异性研究中发挥着独特的优势。分子遗传标记目前已出现了几十种 ,可依其涉及的位点和反映的多态性的基础分为多位点分子标记和单位点分子标记 ,多位点分子标记反映核苷酸序列的多态性 ,单位点分子标记反映基因座上等位基因的多态性。本文对一些常用的分子标记技术的特点和它们在昆虫系统进化、昆虫分类、昆虫生态、生物防治和特定基因标记等研究中的应用作了介绍。     

Global genetic analysis

The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics and population-based studies. Among variations being analyzed, single nucleotide polymorphisms seem to be most useful in large-scale genetic analysis. This review discusses approaches for genetic analysis, use of different markers, and emerging technologies for large-scale genetic analysis where millions of genotyping need to be performed.     

桑树二倍体及人工诱导的同源四倍体遗传差异的AFLP分析

利用AFLP（Amplified Fragment Length Polymorphism）分子标记技术,即扩增片段长度多态性,从DNA分子水平探讨二倍体桑（2n=2X=28）与经秋水仙素诱变得到的同源四倍体桑（2n=4X=56）在遗传结构上的差异。根据对供试材料DNA多态性及遗传距离分析,认为经秋水仙素诱变得到的同源4X与2X相比在DNA分子遗传结构上产生一定程度的改变,在种内变异水平上,2X与同源4X桑间的遗传差异小于种间差异。     

Progress in the Study of Molecular Genetic Improvements of Poplar in China

The poplar is one of the most economically important and intensively studied tree species owing to its wide application in the timber industry and as a model material for the study of woody plants. The natural resource of poplars in China is replete. Over the past 10 years, the application of molecular biological techniques to genetic improvements in poplar species has been widely studied in China. Recent advances in molecular genetic improvements of poplar, including cDNA library construction, gene cloning and identification, genetic engineering, gene expression, genetic linkage map construction, mapping of quantitative trait loci （QTL） and molecular-assisted selection, are reviewed in the present paper. In addition, the application of modern biotechnology to molecular improvements in the genetic traits of the poplar and some unsolved problems are discussed.     

微卫星DNA标记及其在鱼类遗传多样性研究中的应用

微卫星DNA作为第二代分子遗传标记是高等真核生物基因组中种类多、分布广、具有高度的多态性和杂合度的分子标记,由于其具有多态性检出率高、信息含量大、共显性标记、实验操作简单、结果稳定可靠等优点,已经成为种群遗传学研究中被广泛应用的分子遗传标记。微卫星DNA标记技术在鱼类的群体遗传结构的分析、物种遗传多样性的鉴定以及遗传基因连锁图谱的构建等方面已初步得到应用。该文就微卫星技术的原理方法,在鱼类遗传多样性研究中的应用概况以及应用范围和注意事项等方面进行综述。为微卫星技术在鱼类遗传多样性研究中应用提供了理论参考。     

山羊基因组与遗传变异图谱研究进展

高通量测序技术和生物信息学的发展极大的促进了山羊分子生物学研究。山羊参考基因组的不断完善以及基因组重测序技术的应用,在全基因组水平上发现了大量的遗传变异信息(SNP、Indel和CNV),丰富了山羊分子群体遗传学研究利用的分子标记。综述了山羊参考基因组组装和全基因组变异图谱的构建及其在山羊上的研究进展,以期为进一步利用分子遗传标记进行山羊的各种性状的遗传基础研究和遗传资源保护利用提供科学依据和参考。     

DNA分子标记在果树遗传育种研究中的应用

DNA分子标记是随着分子生物学技术的发展出现的一类重要的遗传标记,近年来发展非常迅速,已在果树遗传育种研究的各个方面得到广泛的应用。介绍了几种DNA分子标记技术的原理,综述了DNA分子标记在果树种质资源研究、分子遗传图谱构建、基因定位、分子辅助选择等方面的应用,并对其在果树上的应用前景和存在问题进行了评述。     

Allele-Specific Behavior of Molecular Networks: Understanding Small-Molecule Drug Response in Yeast

The study of systems genetics is changing the way the genetic and molecular basis of phenotypic variation, such as disease susceptibility and drug response, is being analyzed. Moreover, systems genetics aids in the translation of insights from systems biology into genetics. The use of systems genetics enables greater attention to be focused on the potential impact of genetic perturbations on the molecular states of networks that in turn affects complex traits. In this study, we developed models to detect allele-specific perturbations on interactions, in which a genetic locus with alternative alleles exerted a differing influence on an interaction. We utilized the models to investigate the dynamic behavior of an integrated molecular network undergoing genetic perturbations in yeast. Our results revealed the complexity of regulatory relationships between genetic loci and networks, in which different genetic loci perturb specific network modules. In addition, significant within-module functional coherence was found. We then used the network perturbation model to elucidate the underlying molecular mechanisms of individual differences in response to 100 diverse small molecule drugs. As a result, we identified sub-networks in the integrated network that responded to variations in DNA associated with response to diverse compounds and were significantly enriched for known drug targets. Literature mining results provided strong independent evidence for the effectiveness of these genetic perturbing networks in the elucidation of small-molecule responses in yeast.