The invention provides fast and highly accurate mass spectrometer based processes for detecting a particular nucleic acid sequence in a biological sample. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

DNA diagnostics based on mass spectrometry

Methods for determining the sequence of nucleic acids by cleaving the nucleic acid unilaterally from a first end with an exonuclease activity to sequentially release individual nucleotides, identifying each of the sequentially release nucleotides by mass spectrometry, and determining the sequence of the nucleic acid from the identified nucleotides are disclosed. The method is amenable to multiplexing for simulataneously determining more than one nuleic acid sequence.

Dna sequencing by mass spectrometry via exonuclease degradation

Matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) mass spectrometry (MS) has developed during the past decade into a versatile tool for biopolymer analysis. The aim of this review is to summarize this development and outline the applications, which have been enabled for routine use in the field of nucleic acid analysis. These include the analysis of mutations, the resequencing of amplicons with a known reference sequence, and the quantitative analysis of gene expression and allelic frequencies in complex DNA mixtures.

MALDI-TOF mass spectrometry: a versatile tool for high-performance DNA analysis.

Embodiments of the invention are directed to microfluidic devices. In one embodiment, a microanalysis chip comprises a body having at least one transfer-separation channel with a channel bottom that has a bottom opening. The transfer-separation channel terminates in a discharge aperture.

Microfluidic devices and methods

This invention provides methods of retentate chromatography for resolving analytes in a sample. The methods involve adsorbing the analytes to a substrate under a plurality of different selectivity conditions, and detecting the analytes retained on the substrate by desorption spectrometry. The methods are useful in biology and medicine, including clinical diagnostics and drug discovery.

Retentate chromatography and protein chip arrays with applications in biology and medicine

Matrix assisted laser desorption/ionization is performed in a manner to thermalize large analyte ions in a plume of desorbed material for spectroscopic analysis. The thermalized ions have a low or zero mean velocity and are presented at a well-defined instant in time, reducing artifacts and sharpening the spectral peaks. In one embodiment the light is delivered to a matrix or sample holder having a cover, baffle or compartment. The baffle or compartment impedes or contains a plume of desorbed material and the analyte undergoes collisions to lower its mean velocity and directionality. Thus "thermalized", the analyte ions are passed to a mass analysis instrument. In a preferred embodiment, an optical fiber butts up against a thin transparent plate on which the specimen resides, with the matrix side in a vacuum acceleration chamber. A mechanical stage moves the specimen in both the x- and y-directions to select a point on the specimen which is to receive the radiation. The use of a fiber optic illuminator allows the entire stage assembly to be subsumed essentially within the dimensions of a conventional stage.

Method and apparatus for maldi analysis

The invention provides a means of detecting and identifying mutations in a genetic region, and a means of quantifying the number of repeat units in, for example, a trinucleotide repeat, by transcription/translation of the genetic region into a target polypeptide. The method requires neither radioisotopic nor fluorescent labeling of the target polypeptide. In particular, the invention is based on mass spectrometric determination of the mass of the encoded target polypeptide and comparison of the mass of the polypeptide with its own expected mass or with the mass of a polypeptide of known identity. Depending on the target polypeptide to be identified, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

Diagnostics based on mass spectrometric detection of translated target polypeptides

Mass spectrometry was employed to analyze gene expression of cancer cells by RT-PCR, to determine polymorphisms within short tandem repeat regions of the human genome and to derive sequence information from diagnostic PCR products by solid-phase Sanger sequencing.

Mass Spectrometric DNA Diagnostics

Massenspektrometrischer nachweis von polypeptiden

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Method and apparatus for maldi analysis

Diagnostics based on mass spectrometric detection of translated target polypeptides

Mass Spectrometric DNA Diagnostics

Massenspektrometrischer nachweis von polypeptiden