Faculty Research 1990 - 1999

Title

Differential sequencing with mass spectrometry.

Document Type

Article

Publication Date

1999

Keywords

Sequence-Analysis-DNA, Spectrometry-Mass-Matrix-Assisted-Laser-Desorption-Ionization, Spectrum-Analysis-Mass, SUPPORT-U-S-GOVT-NON-P-H-S, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Genet Anal 1999 Feb; 14(5-6):215-9.

Abstract

Differential or genetic sequencing requires searching sample DNA for variations with respect to a reference sequence. Conventional detection techniques are too labor and cost expensive for use in diagnostic applications, therefore new technologies will be required. Measurement techniques based on mass spectrometry (MS) possess the potential for high-throughput, high fidelity measurement of sequence variation. Unambiguous detection of polymorphic sequences has been demonstrated, even in heterozygous samples. Automated reproducible measurements of microscopic arrays of samples will enable the high-throughput detection required for large-scale applications. Computational simulation and analysis of experimental parameters prior to experimentation will provide the optimization necessary for development of robust, reproducible measurements.