Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues

摘要: High-resolution melting (HRM) analysis is a recently developed molecular technique proved to be applicable for detection of genetic variation, notably in sudden cardiac death. In certain circumstances, especially postmortem investigations, the formalin-fixed and paraffin-embedded (FFPE) tissues are only DNA source available. The present study aimed develop HRM assays, optimized FFPE tissues, detect sequence variations KCNQ1 exons prospective population-based series negative death compare results between paired freshly frozen tissue samples simultaneously obtained from same case. analyses were conducted each case involving cases younger than 35 years with no significant morphological anomalies particularly structural disease negatives toxicological investigations. was successfully 13 16 gene. All mutated correctly identified by whatever type tested. However, samples, indicated more positive classical sequencing, used parallel, due degradation formalin fixation. This first mutation on extracted adapted protocol. Despite false-positive detection, we concluded that use as screening method analyze mutations can reduce number sequencing reactions and, thus, substantial time cost savings.