title: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease.
abstract: Matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) has been used as a rapid method for the detection of human genetic polymorphisms. In particular, the mutations in the human HEXA gene that cause the infantile Tay-Sachs disease have been studied using MALDI-MS to demonstrate the feasibility of this technique for use in clinical and diagnostic analysis. The protocols involved in this approach include, polymerase chain reaction for the amplification of the mutation site from buccal cell DNA, followed by restriction enzyme digestion of the amplified regions of the template cells. The products of amplification and digestion were studied using MALDI-MS. MALDI-MS experiments are shown to provide essentially the same information as obtained from gel electrophoresis but orders of magnitude faster.
authors.affiliation: Department of Chemistry, University of Michigan, Ann Arbor 48109, USA.
authors.forename: J R
authors.initials: JR
authors.lastname: Srinivasan
authors.forename: Y H
authors.initials: YH
authors.lastname: Liu
authors.forename: P J
authors.initials: PJ
authors.lastname: Venta
authors.forename: D
authors.initials: D
authors.lastname: Siemieniak
authors.forename: A A
authors.initials: AA
authors.lastname: Killeen
authors.forename: Y
authors.initials: Y
authors.lastname: Zhu
authors.forename: D M
authors.initials: DM
authors.lastname: Lubman
mesh_terms: D001483:Base Sequence; D015152:Blotting, Northern; D002610:Cheek; D017931:DNA Primers; D004262:DNA Restriction Enzymes / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D054818:Hexosaminidase A; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009061:Mouth Mucosa; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C024403:GGCC-specific type II deoxyribonucleases; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases