Article
Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards.
Pediatric research - 1 Nov 2001
Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee L M, Cole F S
Abstract excerpt
To determine the population-based frequency of a rare mutation (the 121ins2 mutation in the surfactant protein B gene), we developed high-throughput techniques to extract reliably and rapidly amplifiable DNA from Guthrie cards. Using a 3-mm punch from each of 10,044 Guthrie cards obtained from the Missouri Department of Health, we extracted DNA with deionized water by heating in the presence of 2% Chelex in a...
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