遗传学实验技术

The two forms of dystrophin-associated muscular dystrophies, known as Duchenne and Becker muscular dystrophy (DMD/BMD; OMIM 310200) are caused by genetic defects in the huge DMD gene (79 exons), located at Xp21 and coding for the 427-kDa protein known as dystrophin (1,2). DMD is the most frequent m ...

Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders, affecting about 1 in every 4000 individuals worldwide. It is fully penetrant by the age of five. The condition is characterized by multiple caf�-au-lait spots, benign neurofibromas, and ...

Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are autosomal dominant cancer syndromes caused by mutations in the MEN1 (1) and RET (2) gene ...

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (1,2). More than 1000 disease mutations and 200 polymorphisms have been identified in the CFTR gene (3). The type and frequency of mutations is very variable from ethnic popula ...

The hemoglobinopathies are a diverse group of inherited recessive disorders that include the thalassemias and sickle-cell disease. These were the first genetic diseases to be characterized at the molecular level, and consequently have been used as a prototype for the development of new ...

Since the discovery of dynamic mutations approx 10 yr ago, the pathological expansion of unstable trinucleotide repeats has been shown to be the cause of an increasing number of neurological disorders. The trinucleotide repeat disorders identified to date can be categorized into two sub ...

Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited disorder that predisposes to the development of hundreds to thousands of adenomatous polyps throughout the colon and rectum (MIM 175100). Left untreated, it is almost 100% certain that at least one of these polyps ...

Mapping of protein binding sites within the genome has been significantly advanced by microarray and sequencing technologies, yet the method traditionally used to isolate protein–DNA complexes, chromatin immunoprecipitation, has remained dependent of the use of antibodies. ...

Comprehensive analysis of DNA–protein interactions is important for mapping transcriptional regulatory networks at the genome-wide level. Here, we present a new application of mRNA display, using the in vitro virus (IVV) technology, for in vitro selection of DNA-binding protein com ...

Promoter deletion analysis is a useful tool for identifying important regulatory regions involved in transcriptional control of gene expression. In this approach, a series of promoter deletion fragments are fused to a reporter gene, such as chloramphenicol acetyltransferase or l ...

Luciferase based assays have become an invaluable tool for the analysis of cloned promoter DNA fragments, both for verifying the ability of a potential promoter fragment to drive the expression of a luciferase reporter gene in various cellular contexts, and for dissecting binding elemen ...

ChIP-seq is rapidly becoming a routine technique for the determination of the genome wide association of DNA binding proteins and histone modifications. Here we provide a protocol for the isolation, purification, and immunoprecipitation of DNA fragments associated with a target tra ...

The second most common source of genetic variation after SNPs is polymorphic tandem repeats, the alleles of which consist of a variable number of repeated units that can be either small (e.g., CA) or large (to 100 nucleotides in length). There are perhaps over half a million of these in the human genome. They h ...

Two alleles of a gene that contain polymorphic cis-regulatory regions can contribute differently to expression levels. Evolutionary changes in such cis-regulatory domains are believed to have participated in the cognitive evolution of H. sapiensas well as phenotypic diversity. ...

Whole genome sequencing provides the most comprehensive collection of an individual’s genetic variation. With the falling costs of sequencing technology, we envision paradigm shift from microarray-based genotyping studies to whole genome sequencing. We review methodolog ...

In this chapter, we review the public resources available for human mitochondrial DNA and protein related bioinformatics, with a special focus on mitochondrial single nucleotide polymorphisms (mtSNPs). We also review our own freeware tool V-MitoSNP, giving an overview of its impleme ...

The ability to detect mitochondrial DNA (mtDNA) variation within human cells is important not only to identify mutations causing mtDNA disease, but also as mtDNA mutations are being increasingly described in many ageing tissues and in complex diseases such as diabetes, neurodegenera ...

Modern life sciences are becoming increasingly data intensive, posing a significant challenge for most researchers and shifting the bottleneck of scientific discovery from data generation to data analysis. As a result, progress in genome research is increasingly impeded by bioin ...

Increasingly, vast amounts of genomics and genetic data are available. Although much of the data is largely accessible to relatively simple web queries, in some cases, more complex queries are required. This paper reviews the hierarchy of tools for querying genetic and genomic data. For query ...

Genome browsers are powerful tools for biologists - offering fundamental information on genes, regulatory elements, genomic variants, genome structure, and evolution. The comprehensive range of information presented in tools such as the UCSC genome browser and Ensembl enables i ...