遗传学实验技术

Olfactory receptors (OR) represent one of the largest gene families in the human genome. In spite of a significant progress in deciphering the physiological functions of olfactory receptors, how the majority of these G-protein-coupled receptors are activated is still mostly a mystery. C ...

Hetero- and homo-oligomerization of G protein-coupled receptors (GPCRs) has been addressed in the past years using various approaches such as co-immunoprecipitation, fluorescence resonance energy transfer and bioluminescence resonance energy transfer (BRET). Here, we re ...

Humans have approximately 400 intact olfactory receptors (ORs). Among this set there are a large number of variations between individuals, a subset of which affects receptor function and can lead to interindividual variation in olfactory perception. Technological progress and cost ...

Smell is a multidimensional chemical sense. It creates a perception of our odorous environment by integrating the information of a plethora of volatile chemicals with other sensory inputs, emotions and memories. We are almost always exposed to odorant mixtures, not just single chemical ...

We present here the results of the investigation of the electrical properties of two olfactory receptors (ORs): rat, OR I7, and human, OR 17-40, which are of interest in the creation of smell nanobiosensors. Described here is our investigation comparing the results from experiments using elect ...

Providing a rationale that associates a chemical structure of an odorant to its induced perception has been sought for a long time. To achieve this, a detailed atomic structure of both the odorant and the olfactory receptor must be known. State-of-the-art techniques to model the 3D structure of an ol ...

Olfaction is essential for the survival of mammals. Diverse odorant molecules in the environment are detected by olfactory receptors (ORs) expressed in the olfactory epithelium of the nasal cavity. In general, mammalian genomes harbor ∼1,000 OR genes, which form the largest multigene fa ...

Olfactory receptors (ORs) constitute the largest gene family in the mammalian genome. The existence of these proteins underlies the nature of, and variability in, odorant perception. The Human Olfactory Receptor Data Explorer (HORDE, http://genome.weizmann.ac.il/horde/) is a free ...

We present here, the salient aspects of three databases: Olfactory Receptor Database (ORDB) is a repository of genomics and proteomics information of ORs; OdorDB stores information related to odorous compounds, specifically identifying those that have been shown to interact with ol ...

The term “Fragile X” can be used for either of two conditions resulting from trinucleotide repeat expansions at neighboring loci, FRAXA or FRAXE, in the Xq27–28 region; however, FRAXA is by far the more common condition, and only mutations at this locus cause the classical phenotype of “Fragile X syn ...

Autosomal chromosome aneuploid pregnancies that survive to term—namely trisomies 13, 18, and 21—account for 89% of chromosome abnormalities with a severe phenotype (1). They are normally detected by full karyotype analysis of cultured cells. The average UK reporting time for a prenatal k ...

DNA-based measurement of copy number can be useful in a number of applications in human genetics, through its detection of rearrangements of chromosomal structure too small to be detected by standard cytogenetic analyses. In some cases, deletions or duplications may involve several lin ...

Automated fluorescent sequencing of polymerase chain reaction (PCR) products is now widely used in molecular diagnostics. It is most commonly used to characterize mutations detected in an initial screen using a less sensitive, indirect method, rather than a mutation scanning techni ...

Automated fluorescent sequencing is often overlooked as a point mutation scanning technique usually on the grounds of cost, technical complexity, and difficulties in processing the information generated. However, sequencing cannot be avoided completely, because regardle ...

The protein truncation test (PTT) is a powerful mutation detection technique originally described for mutation screening of the dystrophin gene (1). It is based on in vitro transcription/translation technology, and is capable of directly scanning kilobase-sized fragments of DNA for ...

This chapter describes the Transgenomic WAVE� DNA Fragment Analysis System with DNA Sep� Technology, as used in our molecular genetics diagnostic laboratories for the detection of unknown mutations. Four software packages are currently available: WAVEmaker 3.4, 4, 4.1, and most recent ...

The polymerase chain reaction (PCR) has rapidly become an essential tool within the diagnostic laboratory. Therefore, it is crucial when setting up a new PCR-based test to ensure that the PCR reaction is carefully designed to be as robust and reliable as possible. Usually, little optimization is ...

Genetic testing is often regarded as a laboratory procedure in a molecular genetic laboratory. However, for practical use in health care, this definition is too narrow. In the majority of cases, the clinician is not using a genetic test for diagnostic purposes, but confirming or excluding a clini ...

In the last decade, the demand for molecular genetic testing has increased enormously. Many of the laboratories that offer diagnostic molecular genetic testing on a routine basis originated from a research-based setting. The exponential growth of the clinical diagnostic molecular g ...

The spinal muscular atrophies are a clinically and genetically heterogeneous group of neuromuscular disorders caused by degeneration of anterior horn cells. In proximal spinal muscular atrophy (SMA), the muscles of the extremities closest to the trunk are affected earlier and more s ...