基因表达差异显示实验

The ability to analyze a large number of genetic markers consisting of single nucleotide polymorphisms (SNPs) may bring about significant advance in understanding human biology. Recent development of several high-throughput genotyping approaches has significantly facil ...

DNA microarrays can be used to detect polymorphic loci in addition to identifying genes or regions that are absent within a genome. A survey such as this offers greater insight into the level of diversification within a species or population, which is useful in organisms that have nearidentical g ...

Single nucleotide polymorphisms (SNPs) are the most frequent form of DNA variation present in the human genome, and millions of SNPs have been identified (http://www.ncbi.nlm.nih.gov/SNP/). Because of their abundance, even spacing, and stability across the genome, SNPs have significa ...

We have described molecular inversion probe technologies for large-scale genetic analyses. This technique provides a comprehensive and powerful tool for the analysis of genetic variation and enables affordable, large-scale studies that will help uncover the genetic basis of com ...

The same high-throughput techniques used to make genomic sequences generally available, are also useful in mapping the genetic differences between individuals. Resequencing of a genomic region in a set of individuals is considered the golden standard for the discovery of sequence va ...

Sites in the DNA sequences where two homologous chromosomes differ at a single DNA base are called single nucleotide polymorphisms (SNPs). The human genome contains at least 10 million SNPs, making them the most abundant genetic “lampposts” for pinpointing causal variants underlying hu ...

Identification and characterization of nucleotide substitutions in DNA sequences for single nucleotide polymorphism or point mutation detection can be a time consuming and sometimes inaccurate process, particularly in relatively low-throughput situations where fully ...

The National Center for Biotechnology Information (NCBI) has developed several web-based mini-courses (http://www.ncbi.nlm.nih.gov/Class/minicourses) illustrating the applications of NCBI resources. This chapter describes the problem-based minicourse called “ ...

Analysis of bacterial genomes revealed a high percentage of DNA consisting of repeats, in which DNA motifs existed in multiple copies. Study of these DNA motifs has resulted in the development of variable number tandem repeat (VNTR) or multilocus variant-repeat analysis (MLVA) assays, whi ...

Genetic mapping with DNA sequence polymorphisms allows for map-based positional cloning of mutations at any required resolution. Numerous methods have been worked out to assay single nucleotide polymorphisms (SNPs), the most common type of molecular polymorphisms. However, SNP g ...

High-resolution and reproducible whole genome methodologies are needed as tools for rapid and cost-effective analysis of genetic diversity within bacterial genomes. These should be useful for a broad range of applications such as identification and subtyping of microorganisms ...

The efficient and safe introduction of genes into the central nervous system (CNS) is a difficult, yet much sought after objective. Two broad classes of aims can be distinguished. On the one hand, there is therapy in which the ultimate target will be the modification of an endogenous gene by homologous ...

Tremendous progress has been made in the understanding of human diseases and medical problems at a molecular level. This has led to the development of molecular medicine, that is, gene therapy and intracellular immunization. Among the major steps involved in the modification of target cells ...

To date, virus-mediated gene transfer has focused principally on murine leukemia virus and adenovirus as delivery vehicles (1,2). It has become clear that these viral delivery systems are not adequate for the range of potential therapeutic needs, and other vehicles are being developed for t ...

Gene therapy is a rapidly emerging field that holds much promise for the treatment of inherited disorders and acquired diseases. A major goal in most human clinical trials has been to produce long-term expression of therapeutic genes by integration of the DNA sequences encoding these genes in ...

Mammalian cell lines expressing a recombinant gene of interest are conventionally generated by random genomic integration of exogenous DNA containing the recombinant gene and a selectable marker. In contrast, site-specific recombination targets the exogenous DNA to a presele ...

The site-directed alteration of genomic sequences by homologous replacement (1,2), psoralen mutation (3), or site-directed repair-mediated correction (4)is a technology that can be used to achieve a number of different ends, including:the introduction of specific mutations into ...

Gene targeting, the designed alteration of genomic information by homologous recombination, has provided a powerful means of genetic analysis of mammalian systems (1). Its wider application, especially to human gene therapy, is, however, hampered by its low level of efficiency. Only a ve ...

Adeno-associated virus (AAV) is of the genus Dependovirus and a member of the family Parvoviridae (1). AAV is unique, in that it requires co-infection of a second helper virus (i.e., adenovirus or herpesvirus) to undergo productive infection. In the absence of a helper virus, AAV will integrate pref ...

The antigenicity of proteins resides in different types of antigenic determinants known as continuous and discontinuous epitopes, cryptotopes, neotopes, and mimotopes. All epitopes have fuzzy boundaries and can be identified only by their ability to bind to certain antibodies. An ...