遗传学实验技术

Exosomes are nano-sized, cell membrane surrounded structures that are released from many cell types. These exosomes are believed to transport a range of molecules, including mRNAs, miRNAs, and proteins; the contents depending on their cell of origin. The physiological and pathological ...

Fluorescence microscopy is an important and fundamental tool for biomedical research. Optical microscopy is almost non-invasive and allows highly spatially resolved images of organisms, cells, macromolecular complexes, and biomolecules to be obtained. Generally speakin ...

Immunohistochemistry (IHC) and immunofluorescence (IF) involve the binding of an antibody to a cellular or tissue antigen of interest and then visualisation of the bound product by fluorescence/with the 3,3′-diaminobenzidine (DAB) chromogen detection system. With increasing n ...

Cell line array (CMA) and tissue microarray (TMA) technologies are high-throughput methods for analysing both the abundance and distribution of gene expression in a panel of cell lines or multiple tissue specimens in an efficient and cost-effective manner. The process is based on Kononen’s ...

Candidate gene identification deals with associating genes to underlying biological phenomena, such as diseases and specific disorders. It has been shown that classes of diseases with similar phenotypes are caused by functionally related genes. Currently, a fair amount of knowled ...

This chapter gives a brief overview of text-mining techniques to extract knowledge from large text collections. It describes the basis pipeline of how to come from text to relationships between biological concepts and the problems that are encountered at each step in the pipeline. We first ex ...

Here we describe a bioinformatic strategy for extracting and analyzing the list of variants revealed from an exome sequencing project to identify potential disease genes. This in silico method filters out the majority of common SNPs and extracts a list of potential candidate protein-cod ...

In silico PCR analysis is a useful and efficient complementary method to ensure primer specificity for an extensive range of PCR applications from gene discovery, molecular diagnosis, and pathogen detection to forensic DNA typing. In silico PCR, SNPCheck, and Primer-BLAST are commonly u ...

A wide assortment of R tools are available for exploratory data analysis in high-dimensional settings and are easily applicable to data arising from population-based genetic association studies. In this chapter we illustrate the application of three such approaches, namely condit ...

The development of high-throughput experimental techniques has made measurements for virtually all kinds of cellular components possible. Effective integration and analysis of this diverged information to produce insightful knowledge is central to biological study toda ...

Association mapping seeks to identify marker alleles present at significantly different frequencies in cases carrying a particular disease or trait compared with controls. Genome-wide association studies are increasingly replacing candidate gene-based association s ...

Linkage analysis is used to map genetic loci using observations on relatives. It can be applied to both major gene disorders (parametric linkage) and complex diseases (model-free or non-parametric linkage), and it can be based on either a relatively small number of microsatellite markers or a d ...

A wealth of in silico tools is available for protein motif discovery and structural analysis. The aim of this chapter is to collect some of the most common and useful tools and to guide the biologist in their use. A detailed explanation is provided for the use of Distill, a suite of web servers for the prediction ...

Methods for predicting protein post-translational modifications have been developed extensively. In this chapter, we review major post-translational modification prediction strategies, with a particular focus on statistical and machine learning approaches. We prese ...

The history of genetic markers accurately partitions the progression of molecular genetics into three phases: the RFLP (restriction fragment length polymorphism), microsatellite and SNP (single nucleotide polymorphism) eras. This chapter focuses predominately on the cur ...

qPCR instruments are supplied with basic software packages that enable the measurement of fluorescent changes, calculations of quantification cycle (C q ) values, the generation of standard curves and subsequent relative target nucleic acid quantity determination. However, de ...

It appears that all types of genomic nucleotide variations can be deleterious by affecting normal pre-mRNA splicing via disruption/creation of splice site consensus sequences. As it is neither pertinent nor realistic to perform functional testing for all of these variants, it is import ...

The recognition of transcription factor binding sites (TFBSs) is the first step on the way to deciphering the DNA regulatory code. A large variety of computational approaches and corresponding in silico tools for TFBS recognition are available, each having their own advantages and short ...

Experimental analyses of disease-associated DNA variants have provided significant insights into the functional implications of sequence variation. However, such experiment-based approaches for identifying functional DNA variants from a pool with a large number of neutr ...

DNA sequencing is widely used for DNA diagnostics and functional studies of genes of interest. With significantly increased sequencing outputs, manual reading of sequence results can impede an efficient and accurate analysis. Mutation Surveyor is a useful in silico tool developed by S ...