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Investigations moléculaires dans la mort subite du sujet de moins de 35 ans

Abstract : The congenital cardiac channelopathies constitute the principal diagnostic hypothesis in autopsynegative sudden unexplained death concerning people younger than 35 years old. The present study aimed to develop a strategy of mutations detection on known genes implicated in the cardiac channelopathies. This strategy of mutations detection had to be applicable to routine and has been studied on formalin-fixed and paraffin-embedded (FFPE) tissues which are the principal DNA source available in France. On a cohort of 12 cases, two technique of sequence variants detection wereevaluated: the screening method of High Resolution Melt and the genotyping method based on a MALDI-TOF mass spectrometry, respectively on KCNQ1 and RyR2 genes. Whatever the technique, there is a necessity of resorting to the Sanger sequencing to explore the sequence of interest none optimized with one or the other technology both on FFEP and frozen tissues. That’s why the next generation sequencing method should open new perspectives in the post-mortem diagnostic of cardiac channelopathies.
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Audrey Farrugia-Jacamon. Investigations moléculaires dans la mort subite du sujet de moins de 35 ans. Biochimie, Biologie Moléculaire. Université de Strasbourg, 2012. Français. ⟨NNT : 2012STRAJ074⟩. ⟨tel-00804339⟩

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