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RYR2Ryanodine Receptor 2 Gene (cardiology)
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Three genes were selected on the basis of the recent genome-wide studies (SOCS3, RYR2 [11], and EID3 [27]).
3) -- HLTF Helicase like transcription factor LAMA1 Laminin subunit alpha 1 NEUROG1 NEUROG1 Neurogenin 1 NGFR NGFR Nerve growth factor receptor RARB RARB Retinoic acid receptor beta RXRG RXRG Retinoid X receptor gamma RYR2 RYR2 Ryanodine receptor 2 SDC2 SDC2 Syndecan 2 SEPT9 SEPT9 Septin 9 SFRP2 SFRP2 Secreted frizzled-related SOCS3 SOCS3 Suppressor of cytokine signaling 3 SOX17 SOX17 SRY-box 17 THBD THBD Thrombomodulin Transmembrane protein with TMEFF2 TMEFF2 EGF-like and two follista- tin-like domains 2 UCHL1 UCHL1 Ubiquitin C-torminal hydro-lase L1 VIM VIM Vimentin Gene (a) Chromosomal (region) location (a) ADHFE1 8q12.
While this technology will not prevent Long Q-Ts and RyR2s from dying in our facilities, the real-time video will conclusively show that the victim did not drown, provided, of course, the lifeguards responded in an appropriate and timely fashion.
DNA samples from six patients with a previously identified RYR2 missense mutation were used as positive controls to verify the efficacy of the DHPLC mutation detection system.
The PCR primers for amplification of the RYR2 coding regions have been published previously (5).
As a first attempt, we performed DHPLC analyses on each RYR2 fragment at the melting temperatures suggested by NAVIGATOR.
Once conditions for DHPLC analysis of 98 RYR2 fragments were established, we analyzed positive control amplicons carrying known RYR2 mutations.
To assess the sensitivity of DHPLC for detecting RYR2 mutations, we compared results from DHPLC analysis with direct sequencing of DNA samples from four patients with effort-induced polymorphic ventricular arrhythmias.
Mutation screening in such patients was performed on 54 amplicons, corresponding to RYR2 exons 2-4, 6-15, 17-20, 39-49, 83, 84, 87-97, and 99-105, which were selected based on being suitable for DHPLC analysis as well as "critical" (because of previously reported pathogenic mutations).