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Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry as a Rapid Screening Method to Detect Mutations Causing Tay–Sachs Disease
Authors
Anthony A. Killeen
Yan-hui Liu
+5 more
David M. Lubman
David R. Siemieniak
Jannavi R. Srinivasan
Patrick J. Venta
Yongdong Zhu
Publication date
30 June 1997
Publisher
'Wiley'
Doi
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. © 1997 John Wiley & Sons, Ltd.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/35066/1/981_ftp.pd
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Last time updated on 25/05/2012
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Last time updated on 24/08/2020